Publications by authors named "Lucia Manganaro"

94 Publications

Quantitative CT texture analysis in predicting PD-L1 expression in locally advanced or metastatic NSCLC patients.

Radiol Med 2021 Aug 9. Epub 2021 Aug 9.

Department of Radiological, Oncological, and Pathological Sciences, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.

Purpose: The assessment of Programmed death-ligand 1 (PD-L1) expression has become a game changer in the treatment of patients with advanced non-small cell lung cancer (NSCLC). We aimed to investigate the ability of Radiomics applied to computed tomography (CT) in predicting PD-L1 expression in patients with advanced NSCLC.

Methods: By applying texture analysis, we retrospectively analyzed 72 patients with advanced NSCLC. The datasets were randomly split into a training cohort (2/3) and a validation cohort (1/3). Forty radiomic features were extracted by manually drawing tumor volumes of interest (VOIs) on baseline contrast-enhanced CT. After selecting features on the training cohort, two predictive models were created using binary logistic regression, one for PD-L1 values ≥ 50% and the other for values between 1 and 49%. The two models were analyzed with ROC curves and tested in the validation cohort.

Results: The Radiomic Score (Rad-Score) for PD-L1 values ≥ 50%, which consisted of Skewness and Low Gray-Level Zone Emphasis (GLZLM_LGZE), presented a cut-off value of - 0.745 with an area under the curve (AUC) of 0.811 and 0.789 in the training and validation cohort, respectively. The Rad-Score for PD-L1 values between 1 and 49% consisted of Sphericity, Skewness, Conv_Q3 and Gray Level Non-Uniformity (GLZLM_GLNU), showing a cut-off value of 0.111 with AUC of 0.763 and 0.806 in the two population, respectively.

Conclusion: Rad-Scores obtained from CT texture analysis could be useful for predicting PD-L1 expression and guiding the therapeutic choice in patients with advanced NSCLC.
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http://dx.doi.org/10.1007/s11547-021-01399-9DOI Listing
August 2021

Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.

Acta Neuropathol 2021 10 4;142(4):761-776. Epub 2021 Aug 4.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, USA.

Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.
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http://dx.doi.org/10.1007/s00401-021-02355-7DOI Listing
October 2021

Radiomics in cervical and endometrial cancer.

Br J Radiol 2021 Sep 8;94(1125):20201314. Epub 2021 Jul 8.

Facoltà di Scienze biomediche, Università della Svizzera italiana (USI), Via Buffi 13, 6900, Lugano (CH), Switzerland.

Radiomics is an emerging field of research that aims to find associations between quantitative information extracted from imaging examinations and clinical data to support the best clinical decision. In the last few years, some papers have been evaluating the role of radiomics in gynecological malignancies, mainly focusing on ovarian cancer. Nonetheless, cervical cancer is the most frequent gynecological malignancy in developing countries and endometrial cancer is the most common in western countries. The purpose of this narrative review is to give an overview of the latest published papers evaluating the role of radiomics in cervical and endometrial cancer, mostly evaluating association with tumor prognostic factors, with response to therapy and with prediction of recurrence and distant metastasis.
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http://dx.doi.org/10.1259/bjr.20201314DOI Listing
September 2021

Quantitative diffusion and perfusion MRI in the evaluation of endometrial cancer: validation with histopathological parameters.

Br J Radiol 2021 Sep 16;94(1125):20210054. Epub 2021 Jun 16.

Department of Radiological, Oncological and Pathological Sciences, Umberto I Hospital,"Sapienza" University of Rome, Rome, Italy.

Objectives: To investigate the role of quantitative Magnetic Resonance Imaging (MRI) in preoperative assessment of tumour aggressiveness in patients with endometrial cancer, correlating multiple parameters obtained from diffusion and dynamic contrast-enhanced (DCE) MR sequences with conventional histopathological prognostic factors and inflammatory tumour infiltrate.

Methods: Forty-four patients with biopsy-proven endometrial cancer underwent preoperative MR imaging at 3T scanner, including DCE imaging, diffusion-weighted imaging (DWI) and intravoxel incoherent motion imaging (IVIM). Images were analysed on dedicated post-processing workstations and quantitative parameters were extracted: , , and from the DCE; from DWI; diffusion , pseudo diffusion , perfusion fraction from IVIM and tumour from DWI. The following histopathological data were obtained after surgery: histological type, grading (G), lympho-vascular invasion (LVI), lymph node status, FIGO stage and inflammatory infiltrate.

Results: was significantly higher in endometrioid histology, G1-G2 (low grade), and stage IA. Significantly higher were found in endometrioid subptype, negative lymph nodes and stage IA. The absence of LVI is associated with higher values. and values were significantly higher in low grade. Higher , and occur with the presence of chronic inflammatory cells, D * was also able to distinguish chronic from mixed type of inflammation. Larger was significantly correlated with the presence of mixed-type inflammation, LVI, positive lymph nodes and stage ≥IB.

Conclusions: Quantitative biomarkers obtained from pre-operative DWI, IVIM and DCE-MR examination are an representation of the physiological and microstructural characteristics of endometrial carcinoma allowing to obtain the fundamental parameters for stratification into Risk Classes.

Advances In Knowledge: Quantitative imaging biomarkers obtained from DWI, DCE and IVIM may improve preoperative prognostic stratification in patients with endometrial cancer leading to a more informed therapeutic choice.
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http://dx.doi.org/10.1259/bjr.20210054DOI Listing
September 2021

External hydrocephalus as a prenatal feature of noonan syndrome.

Ann Hum Genet 2021 Jun 2. Epub 2021 Jun 2.

Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.

Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructive form of cerebrospinal fluid accumulation around the brain. It was described in a few patients with mutations of other genes than PTPN11, such as SOS1 and SHOC2 and never in prenatal diagnosis. The aim of this case report is to describe the prenatal presentation of a fetus with Noonan syndrome (NS) and external hydrocephalus. We report on a Noonan syndrome fetus with a de novo pathogenic PTPN11 c.923A>G p.Asn308Ser mutation, showing external hydrocephalus, an extremely rare fetal finding, corpus callosum, and cerebellar vermis under the 10th centile, plus a typical NS cardiopathy. This is the first case of Noonan syndrome prenatal diagnosis in a fetus presenting with external hydrocephalus. Following pathophysiological considerations, we suggest to consider NS in the differential diagnosis of external hydrocephalus, investigating other evocative findings and considering molecular screening for mutations in NS-related genes.
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http://dx.doi.org/10.1111/ahg.12436DOI Listing
June 2021

Fetal dacryocystocele: A pitfall in the third-trimester prenatal diagnosis of cleft lip.

J Clin Ultrasound 2021 Sep 27;49(7):777-778. Epub 2021 May 27.

Department of Maternal and Child Health and Urologynecological Sciences, Sapienza University of Rome, Umberto I Hospital, Viale del Policlinico n° 155, Rome, 00161, Italy.

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http://dx.doi.org/10.1002/jcu.23023DOI Listing
September 2021

When to ask for an MRI of the scrotum.

Andrology 2021 May 8. Epub 2021 May 8.

Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Roma, Italy.

Background: Multiparametric MRI (mpMRI) of the scrotum has been established as a useful second-line diagnostic tool for the investigation of scrotal diseases. Recently, recommendations on clinical indications for scrotal MRI were issued by the Scrotal and Penile Imaging Working Group of the European Society of Urogenital Radiology.

Objective: To update current research on when to ask for an MRI of the scrotum.

Methods: PubMed database was searched for original articles and reviews published during 2010-2021.

Results: Eighty-three articles fulfilled the search criteria. Scrotal MRI is mainly recommended after inconclusive US findings or inconsistent with the clinical examination and should be asked in the following cases: differentiation between intratesticular and paratesticular lesions (in rare cases of uncertain US findings), characterization of paratesticular and intratesticular lesions (when US findings are indeterminate), discrimination between germ cell and sex cord-stromal testicular tumors, local staging of testicular malignancies (in patients planned for testis-sparing surgery), differentiation between seminomas and non-seminomatous tumors (when immediate chemotherapy is planned and orchiectomy is delayed), assessment of acute scrotum and scrotal trauma (rarely needed, in cases of non-diagnostic US findings) and detection and localization of undescended testes (in cases of inconlusive US findings). Although preliminary data show promising results in the evaluation of male infertility, no established role for mpMRI still exists.

Conclusion: Multiparametric MRI of the scrotum, by assessing morphologic and functional data represents a valuable problem-solving tool, helping to improve our understanding on the nature of scrotal pathology and the process of spermatogenesis. The technique may improve patient care and reduce the number of unnecessary surgical procedures.
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http://dx.doi.org/10.1111/andr.13032DOI Listing
May 2021

Magnetic Resonance Imaging in endometriosis-associated pain.

Minerva Obstet Gynecol 2021 Apr 27. Epub 2021 Apr 27.

Department of Radiological, Oncological and Pathological Sciences, Policlinico Umberto I, Sapienza, University of Rome, Rome, Italy -

Introduction: Endometriosis affects 10%-15% of women in reproductive age and may cause no-cyclic chronic pelvic pain, dysmenorrhea, dyspareunia, urinary tract symptoms, and it is frequently associated with infertility. The peak of incidence is between 24 and 29 years old and the clinical diagnosis of endometriosis is generally delayed by 6-7 years. Laparoscopy with surgical biopsies is the "gold standard" for the diagnosis of endometriosis, with histological verification of endometrial ectopic glands and/or stroma. However, nowadays two different non-invasive modalities are routinely used for a presumptive diagnosis: Transvaginal Ultrasound (TVUS) and Magnetic Resonance Imaging (MRI).

Evidence Acquisition: A structured search using PubMed was performed starting from October 2020 and including all relevant original and review articles published since 2000. The search used the following key word combinations: "Endometriosis MRI" AND "DIE and MRI" (45); "MRI endometriosis and Pelvic Pain" OR "Endometriosis and MRI technical development" (296). Ultimately, 87 articles were deemed relevant and used as the literature basis of this review.

Evidence Synthesis: TVUS represents the first imaging approach for endometriosis showing a good diagnostic performance but it is highly operator dependent. MRI is a second level examination often used in complex cases indeterminate after TVUS and in pre-operative planning. MRI is considered the best imaging technique for mapping endometriosis since it provides a more reliable map of deep infiltrating endometriosis than physical examination and transvaginal ultrasound. We have analyzed and described the main forms of endometriosis: adnexal endometriosis, adenomyosis, peritoneal implants and deep infiltrating endometriosis, showing their appearance in the two imaging modalities.

Conclusions: Endometriosis is one of the most common gynecologic disorders correlated to chronic pelvic pain whose treatment is still today complex and controversial. In this context, MRI has become an important additional non-invasive tool to investigate cases of chronic pelvic pain related to deep infiltrating endometriosis (DIE) with or without neural involvement.
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http://dx.doi.org/10.23736/S2724-606X.21.04782-1DOI Listing
April 2021

IntraVoxel Incoherent Motion (IVIM) MRI of fetal lung and kidney: Can the perfusion fraction be a marker of normal pulmonary and renal maturation?

Eur J Radiol 2021 Jun 19;139:109726. Epub 2021 Apr 19.

Department of Radiological, Oncological and Pathological Sciences, Umberto I Hospital, "Sapienza" University of Rome, Italy. Electronic address:

Purpose: To investigate the use of IntraVoxel Incoherent Motion (IVIM) MRI in the study of microstructural tissue changes occurring in fetal lung and kidney during gestation.

Methods: 34 normal pregnancies were enrolled. Patients were divided into two groups based on gestational age (GA): group A (21-29 weeks) and group B (30-39 weeks). MR examinations were performed at 1.5T, with a standard fetal MR protocol including a Diffusion-Weighted Echo-Planar Imaging sequence with 10 different b-values (0, 10, 30, 50, 75, 100, 200, 400, 700, 1000s/mm). For each fetus, two bilateral ROIs were manually placed in lung and renal parenchyma. Mean values of perfusion fraction f, pseudo-diffusion coefficient D* and diffusion coefficient D were obtained. The correlation between IVIM parameters and GA was investigated.

Results: In renal ROIs a positive correlation between f and GA (p < 0.005) was found; similarly f showed a statistically significant correlation with GA (p < 0.001). F mean values were significantly higher in group B compared to group A in both renal (p = 0.0002) and lung (p = 0.018) ROIs. No correlation was found in D and D* as a function of GA.

Conclusions: The IVIM perfusion fraction f may be considered as a potential marker of pulmonary and renal maturation in relation to hemodynamic changes described in intrauterine life. Our results highlight that IVIM model is useful as an additional prenatal diagnostic tool to study lung and renal development.
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http://dx.doi.org/10.1016/j.ejrad.2021.109726DOI Listing
June 2021

Staging, recurrence and follow-up of uterine cervical cancer using MRI: Updated Guidelines of the European Society of Urogenital Radiology after revised FIGO staging 2018.

Eur Radiol 2021 Oct 14;31(10):7802-7816. Epub 2021 Apr 14.

Department of Radiology, University of Montpellier, Montpellier, France.

Objectives: The recommendations cover indications for MRI examination including acquisition planes, patient preparation, imaging protocol including multi-parametric approaches such as diffusion-weighted imaging (DWI-MR),  dynamic contrast-enhanced imaging (DCE-MR) and standardised reporting. The document also underscores the value of whole-body 18-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (FDG-PET/CT) and highlights potential future methods.

Methods: In 2019, the ESUR female pelvic imaging working group reviewed the revised 2018 FIGO staging system, the up-to-date clinical management guidelines, and the recent imaging literature. The RAND-UCLA Appropriateness Method (RAM) was followed to develop the current ESUR consensus guidelines following methodological steps: literature research, questionnaire developments, panel selection, survey, data extraction and analysis.

Results: The updated ESUR guidelines are recommendations based on ≥ 80% consensus among experts. If ≥ 80% agreement was not reached, the action was indicated as optional.

Conclusions: The present ESUR guidelines focus on the main role of MRI in the initial staging, response monitoring and evaluation of disease recurrence. Whole-body FDG-PET plays an important role in the detection of lymph nodes (LNs) and distant metastases.

Key Points: • T2WI and DWI-MR are now recommended for initial staging, monitoring of response and evaluation of recurrence. • DCE-MR is optional; its primary role remains in the research setting. • T2WI, DWI-MRI and whole-body FDG-PET/CT enable comprehensive assessment of treatment response and recurrence.
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http://dx.doi.org/10.1007/s00330-020-07632-9DOI Listing
October 2021

Does Lung Ultrasound Have a Role in the Clinical Management of Pregnant Women with SARS COV2 Infection?

Int J Environ Res Public Health 2021 03 9;18(5). Epub 2021 Mar 9.

Department of Maternal and Child Health and Urological Sciences, Sapienza, University of Rome, Policlinico Umberto I, Viale del Policlinico 155, 00161 Rome, Italy.

Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV-2) infection is a major health threat. Pregnancy can lead to an increased susceptibility to viral infections. Although chest computed tomography (CT) represents the gold standard for the diagnosis of SARS-CoV-2 pneumonia, lung ultrasound (LUS) could be a valid alternative in pregnancy. The objectives of this prospective study were to assess the role of LUS in the diagnosis of lung involvement and in helping the physicians in the management of affected patients. Thirty pregnant women with SARS-CoV-2 infection were admitted at the obstetrical ward of our Hospital. Mean age was 31.2 years, mean gestational age 33.8 weeks. Several LUS were performed during hospitalization. The management of the patients was decided according to the LUS score and the clinical conditions. Mean gestational age at delivery was at 37.7 weeks, preterm birth was induced in 20% of cases for a worsening of the clinical conditions. No neonatal complications occurred. In 9 cases with a high LUS score, a chest CT was performed after delivery. CT confirmed the results of LUS, showing a significant positive correlation between the two techniques. LUS seems a safe alternative to CT in pregnancy and may help in the management of these patients.
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http://dx.doi.org/10.3390/ijerph18052762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7967479PMC
March 2021

Response to Neoadjuvant Chemotherapy in Locally Advanced Cervical Cancer: The Role of Immune-related Factors.

In Vivo 2021 Mar-Apr;35(2):1277-1283

Department of Maternal and Child Health and Urological Sciences, Sapienza University, Policlinico Umberto I, Rome, Italy.

Background/aim: Treatment of locally advanced cervical cancer (LACC) consists of concomitant chemoradiation or neoadjuvant chemotherapy (NACT) plus radical surgery (RS). This study analyzed the prognostic role of neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), tumor infiltrating lymphocytes (TILs), and PD-L1 expression in LACC patients, treated with NACT+RS.

Patients And Methods: We prospectively analyzed 37 LACC patients treated from December 2016 to September 2019. Patients were submitted to pelvic examination, biopsy and imaging.

Results: In 65% of cases, a nodal involvement was present at pre-treatment MRI. All cancers showed the presence of stromal TILs and PD-L1 staining of inflammatory cells. No significant correlations were found between clinicopathological parameters and the number of TILs and PDL-1 at baseline. After NACT, 29 patients (78%) were submitted to RS; 28% of patients showed pathological complete response, 62% partial response and 10% stable disease. Seven (24%) patients reported a positive node. Patients with high levels of stromal TILs and low NLR and PLR showed a significantly better response to NACT. No significant correlation was observed between PD-L1 expression and response to NACT.

Conclusion: The number of TILs, the expression of PDL1, and NLR and PLR ratios correlate significantly with the response of LACC patients to NACT.
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http://dx.doi.org/10.21873/invivo.12379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045068PMC
June 2021

Uterine Myomas: Focused Ultrasound Surgery.

Semin Ultrasound CT MR 2021 Feb 21;42(1):25-36. Epub 2020 Aug 21.

Department of Radiological, Oncological and Pathological Sciences, Policlinico Umberto I - Sapienza University of Rome, Rome, Italy.

Uterine fibroids are the most common neoplasm in women. These lesions may be associated with impaired fertility and adverse obstetric outcomes. Medical treatment, myomectomy, hysterectomy and uterine artery embolization have been employed for the management of uterine fibroids. Focused ultrasound surgery (FUS) is a relatively recent technique that relies on mechanical and thermal energy of ultrasound for the ablation of a target tissue under an imaging guidance, that can be either ultrasound (US-guided FUS, USgFUS) or magnetic resonance (MR-guided FUS, MRgFUS). Pre- and peri-menopausal women are potential candidates for treatment; however, individual criteria need to be evaluated in order to establish the eligibility for the procedure. FUS procedure can be performed in an outpatient setting; it is a safe and effective treatment that has demonstrated to reduce symptoms associated with uterine fibroids. The adverse event rate is 8.7% and only 0.2% of patients experiences major complications. Pregnancy is possible after the treatment, and no damage to the endometrium has been observed following FUS procedure.
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http://dx.doi.org/10.1053/j.sult.2020.08.001DOI Listing
February 2021

Computed Tomography Based Radiomics as a Predictor of Survival in Ovarian Cancer Patients: A Systematic Review.

Cancers (Basel) 2021 Feb 2;13(3). Epub 2021 Feb 2.

Istituto di Imaging della Svizzera Italiana (IIMSI), Ente Ospedaliero Cantonale (EOC), Via Tesserete 46, 6900 Lugano, Switzerland.

The objective of this systematic review was to assess the results of radiomics for prediction of overall survival (OS) and progression free survival (PFS) in ovarian cancer (OC) patients. A secondary objective was to evaluate the findings of papers that based their analyses on inter-site heterogeneity. This systematic review was conducted according to the PRISMA statement. After the initial retrieval of 145 articles, the final systematic review comprised six articles. Association between radiomic features and OS was evaluated in 3/6 studies (50%); all articles showed a significant association between radiomic features and OS. Association with PFS was evaluated in 5/6 (83%) articles; the period of follow-up ranged between six and 36 months. All the articles showed significant association between radiomic models and PFS. Inter-site textural features were used for analysis in 2/6 (33%) articles. They demonstrated that high levels of inter-site textural heterogeneity were significantly associated with incomplete surgical resection in breast cancer gene-negative patients, and that lower heterogeneity was associated with complete resectability. There were some differences among papers in methodology; for example, only 3/6 (50%) articles included validation cohorts. In conclusion, radiomic models have demonstrated promising results as predictors of survival in OC patients, although larger studies are needed to allow clinical applicability.
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http://dx.doi.org/10.3390/cancers13030573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7867247PMC
February 2021

CTNNB1 p.L31P mutation in an ovarian endometrioid carcinoma with synchronous uterine endometrioid carcinoma.

Pathol Res Pract 2020 Dec 18;216(12):153260. Epub 2020 Oct 18.

Department of Gynecology, University of Rome "Sapienza", Viale Regina Elena 324, 00161, Rome, Italy.

We performed next generation sequencing of DNA extracted from the neoplastic tissues obtained from a patient who underwent surgery for a large right ovarian carcinoma (OC) of endometrioid type associated with endometrial cancer (EC). This was done in order to ascertain whether the tumors were synchronous endometrial/ovarian cancers or an advanced metastatic stage from either the ovary or the uterus. Pathologic criteria favoured synchronous EC/OC. We identified a PTEN c.959 T > G (p.L320X) truncating mutation occurring with similar allele frequency in both neoplastic tissues (ovary: 88 %, endometrium 89 %) and a CTNNB1 c.100C > G (p.S37C) activating mutation, with a comparable allelic frequency in both tumor tissues (ovary 51 %, endometrium 52 %). The shared genetic mutations, and the presence of PTEN c.959 T > G (p.L320X) truncating mutation, albeit at low allelic frequency (6 %), in the healthy peritumoral endometrial tissue, appear to confirm the recent literature on a primary endometrial origin for synchronous EC/OC. A third mutation was CTNNB1 c.92 T > C (p.L31 P), a missense mutation occurring with a low allele frequency (3.7 %) only in the ovarian cancer tissue. This mutation is only occasionally described in hepatocellular carcinomas.
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http://dx.doi.org/10.1016/j.prp.2020.153260DOI Listing
December 2020

Pulmonary and pleural metastasis mimicking COVID-19 infection in stage IV ovarian cancer: a case report.

Tumori 2020 Dec 22;106(6):NP73-NP75. Epub 2020 Sep 22.

Department of Maternal and Child Health and Urological Sciences, Policlinico "Umberto I," University "Sapienza," Rome, Italy.

Background: The differential diagnosis of lung and pleural metastases and coronavirus disease 2019 (COVID-19) can be challenging.

Case: We report a case of a 41-year-old woman with FIGO (International Federation of Gynecology and Obstetrics) stage IV ovarian cancer with pleural and pulmonary spread. After primary cytoreduction was performed, she developed a high fever and worsening dyspnea with desaturation (92% in ambient air). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection was suspected, but three swabs gave negative results. Computed tomographic scan showed radiologic imaging strongly suspect for COVID-19 and the patient was transferred to a COVID-19 ward. The final diagnosis was paraneoplastic fever.

Conclusion: Lung and pleural metastases can mimic SARS-CoV-2 infection.
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http://dx.doi.org/10.1177/0300891620952851DOI Listing
December 2020

Neurosonography and fetal magnetic resonance imaging: this is not a competition!

Eur J Obstet Gynecol Reprod Biol 2020 Nov 25;254:331. Epub 2020 Aug 25.

Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Italy.

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http://dx.doi.org/10.1016/j.ejogrb.2020.08.030DOI Listing
November 2020

Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis.

Acta Obstet Gynecol Scand 2021 01 24;100(1):7-16. Epub 2020 Aug 24.

Center for Fetal Care and High-risk Pregnancy, Department of Obstetrics and Gynecology, University Hospital of Chieti, Chieti, Italy.

Introduction: Corpus callosum agenesis (ACC) is frequently diagnosed during fetal life; its prognosis depends also on additional anomalies. The additional value of fetal magnetic resonance imaging (MRI) in fetuses with "isolated" complete (cACC) and partial (pACC) agenesis of the corpus callosum on ultrasound is still debated.

Material And Methods: We performed a systematic literature review and meta-analysis including fetuses with a prenatal diagnosis of cACC and pACC without associated structural anomalies on ultrasound, undergoing fetal MRI. The primary outcome was the rate of additional anomalies detected at fetal MRI. Further analyses assessed the effect of type of ultrasound assessment (neurosonography vs standard axial assessment), gestational age at fetal MRI and rate of postnatally detected brain anomalies. Random-effect meta-analyses of proportions were used to analyze the data.

Results: Fourteen studies (798 fetuses) were included. In cases with isolated cACC, 10.9% (95% CI 4.1-20.6) and 4.3% (95% CI 1.4-8.8) additional anomalies were detected by fetal MRI and postnatally, respectively. Stratifying according to the type of ultrasound assessment, the rate of associated anomalies detected only on fetal MRI was 5.7% (95% CI 0.5-16.0) with dedicated neurosonography and 18.5% (95% CI 7.8-32.4) with a standard axial assessment. In fetuses with isolated pACC, 13.4% (95% CI 4.0-27.0) and 16.2% (95% CI 5.9-30.3) additional anomalies were detected by fetal MRI or postnatally, respectively. Stratifying according to the type of ultrasound assessment, the rate of associated anomalies detected only on fetal MRI was 11.4% (95% CI 2.7-25.0) when dedicated neurosonography was performed. Cortical and posterior fossa anomalies represented the most common anomalies missed at ultrasound with both cACC and pACC. Due to the very small number of included cases, stratification according to early (<24 weeks of gestation) and late (>24 weeks) fetal MRI could not be done for either cACC or pACC.

Conclusions: The rate of associated anomalies detected exclusively at fetal MRI in isolated ACC undergoing neurosonography is lower than previously reported. Cortical and posterior fossa anomalies are among the most common anomalies detected exclusively at MRI, thus confirming the crucial role of fetal MRI in determining the prognosis of these fetuses. However, some anomalies still go undetected prenatally and this should be stressed during parental counseling.
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http://dx.doi.org/10.1111/aogs.13958DOI Listing
January 2021

Chest CT score in COVID-19 patients: correlation with disease severity and short-term prognosis.

Eur Radiol 2020 Dec 4;30(12):6808-6817. Epub 2020 Jul 4.

Department of Radiological, Oncological and Pathological Sciences, Policlinico Umberto I, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.

Objectives: To correlate a CT-based semi-quantitative score of pulmonary involvement in COVID-19 pneumonia with clinical staging of disease and laboratory findings. We also aimed to investigate whether CT findings may be predictive of patients' outcome.

Methods: From March 6 to March 22, 2020, 130 symptomatic SARS-CoV-2 patients were enrolled for this single-center analysis and chest CT examinations were retrospectively evaluated. A semi-quantitative CT score was calculated based on the extent of lobar involvement (0:0%; 1, < 5%; 2:5-25%; 3:26-50%; 4:51-75%; 5, > 75%; range 0-5; global score 0-25). Data were matched with clinical stages and laboratory findings. Survival curves and univariate and multivariate analyses were performed to evaluate the role of CT score as a predictor of patients' outcome.

Results: Ground glass opacities were predominant in early-phase (≤ 7 days since symptoms' onset), while crazy-paving pattern, consolidation, and fibrosis characterized late-phase disease (> 7 days). CT score was significantly higher in critical and severe than in mild stage (p < 0.0001), and among late-phase than early-phase patients (p < 0.0001). CT score was significantly correlated with CRP (p < 0.0001, r = 0.6204) and D-dimer (p < 0.0001, r = 0.6625) levels. A CT score of ≥ 18 was associated with an increased mortality risk and was found to be predictive of death both in univariate (HR, 8.33; 95% CI, 3.19-21.73; p < 0.0001) and multivariate analysis (HR, 3.74; 95% CI, 1.10-12.77; p = 0.0348).

Conclusions: Our preliminary data suggest the potential role of CT score for predicting the outcome of SARS-CoV-2 patients. CT score is highly correlated with laboratory findings and disease severity and might be beneficial to speed-up diagnostic workflow in symptomatic cases.

Key Points: • CT score is positively correlated with age, inflammatory biomarkers, severity of clinical categories, and disease phases. • A CT score ≥ 18 has shown to be highly predictive of patient's mortality in short-term follow-up. • Our multivariate analysis demonstrated that CT parenchymal assessment may more accurately reflect short-term outcome, providing a direct visualization of anatomic injury compared with non-specific inflammatory biomarkers.
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http://dx.doi.org/10.1007/s00330-020-07033-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334627PMC
December 2020

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.

Mol Genet Genomic Med 2020 08 10;8(8):e1336. Epub 2020 Jun 10.

Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

Background: Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. The proband shows isolated partial ACC and a mild neurodevelopmental phenotype. A fetus from a previous interrupted pregnancy exhibited a complex phenotype including partial ACC and the occurrence of a de novo 17q12 microduplication, which was interpreted as probably disease-causing.

Methods: A trio-based clinical exome sequencing (CES) was performed.

Results: Clinical exome sequencing data analysis led to identifying a heterozygous nonsense variant (NM_139058.3:c.922G>T; NP_620689.1:p.Glu308Ter) in the aristaless related homeobox gene (ARX) in the proband, with a putative de novo occurrence, producing a hypothetical protein lacking two essential domains. Sanger analysis confirmed the wild-type status of both parents in different tissues, and disclosed the occurrence of the nonsense variant in the fetus of the interrupted pregnancy, suggesting a formerly unrecognized contribution of the ARX mutation to the fetus' phenotype and gonadal or gonadosomatic mosaicism in one of the parents.

Conclusion: This study describes the phenotype associated with a heterozygous loss of function variant in ARX. Moreover, it highlights the importance of investigating both chromosomal and genetic contributions in cases of complex syndromic phenotypes involving CNS.
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http://dx.doi.org/10.1002/mgg3.1336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434725PMC
August 2020

MRI of female genital tract congenital anomalies: European Society of Urogenital Radiology (ESUR) guidelines.

Eur Radiol 2020 Aug 27;30(8):4272-4283. Epub 2020 Mar 27.

Department of Radiology, Universitätsklinikum Salzburg, PMU, Müllner-Hauptstr. 48, A-5020, Salzburg, Austria.

Objective: To develop imaging guidelines for the MR work-up of female genital tract congenital anomalies (FGTCA).

Methods: These guidelines were prepared based on a questionnaire sent to all members of the European Society of Urogenital Radiology (ESUR) Female Pelvic Imaging Working Group (FPI-WG), critical review of the literature and expert consensus decision.

Results: The returned questionnaires from 17 different institutions have shown reasonable homogeneity of practice. Recommendations with focus on patient preparation and MR protocol are proposed, as these are key to optimised examinations. Details on MR sequences and planning of uterus-orientated sequences are provided.

Conclusions: The multiplanar capabilities and soft tissue resolution of MRI provide superb characterisation of the wide spectrum of findings in FGTCA. A standardised imaging protocol and method of reporting ensures that the salient features are recognised, contributing to a correct diagnosis and classification of FGTCA, associated anomalies and complications. These imaging guidelines are based on current practice among expert radiologists in the field and incorporate up to date information regarding MR protocols and essentials of recently published classification systems.

Key Points: • MRI allows comprehensive evaluation of female genital tract congenital anomalies, in a single examination. • A dedicated MRI protocol comprises uterus-orientated sequences and vaginal and renal evaluation. • Integration of classification systems and structured reporting helps in successful communication of the imaging findings.
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http://dx.doi.org/10.1007/s00330-020-06750-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338830PMC
August 2020

Hypoplasia of the Corpus Callosum: A Single Center Experience and a Concise Literature Review.

Fetal Pediatr Pathol 2020 Feb 18:1-12. Epub 2020 Feb 18.

Department of Maternal and Child Health and Urologic Sciences, Umberto I Hospital, "Sapienza" University of Rome, Rome, Italy.

Corpus callosum hypoplasia is described as a fully formed corpus callosum with reduced thickness. Our purpose is to evaluate the current knowledge about this anomaly including it's effect on the neurodevelopmental outcome and to report our single center experience. PubMed, Medline and reference lists were searched using combinations of these terms: "Hypoplasia of corpus callosum and prenatal diagnosis" and "neurodevelopmental outcome". Eleven studies were included, with a final population of 48 patients (45 cases from literature plus 3 of our own cases). Hypoplasia of the corpus callosum was detected by ultrasound scan alone in 77% of cases: magnetic resonance confirmed the ultrasound suspicion in the remaining 23% of cases. Isolated form was detected in 31% cases. Adverse fetal outcomes occurred in 62% of cases, while 38% of cases were born alive. The neurodevelopmental outcome was found to be normal in 33% of cases. Antenatal detection of corpus callosum hypoplasia remains challenging. Counseling is difficult because neurodevelopmental outcomes are variable.
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http://dx.doi.org/10.1080/15513815.2020.1723148DOI Listing
February 2020

Endometriosis and Pregnancy: A Single Institution Experience.

Int J Environ Res Public Health 2020 01 8;17(2). Epub 2020 Jan 8.

Department of Maternal and Child Health and Urological Sciences, Sapienza, University of Rome, Policlinico Umberto I, Viale del Policlinico 155, 00161 Rome, Italy.

Endometriosis may compromise the physiological course of pregnancy. The aim of this prospective observational study was to evaluate whether endometriosis causes a higher prevalence of obstetric and neonatal complications as well as a higher risk of caesarean section and to detect a possible correlation between the presence, type, and location of endometriosis and obstetric complications, previous surgery, and pregnancy outcome, as well as the influence of pregnancy on the course of the disease. We compared two cohorts of women with spontaneous pregnancy, with and without endometriosis. Obstetric and neonatal outcomes, mode of delivery, presence, type, and location of endometriotic lesions and the effect of pregnancy on the disease were analyzed. A total of 425 pregnancies were evaluated: 145 cases and 280 controls. Patients with endometriosis showed a higher incidence of miscarriage, threatened miscarriage, threatened preterm labor, preterm delivery, placental abruption, and a higher incidence of caesarean section. A significant correlation with pregnancy-induced hypertension and preeclampsia was found in the presence of adenomyosis. No difference in fetal outcome was found. One case of hemoperitoneum during pregnancy was observed. Pregnancy in women with endometriosis carries a higher risk of obstetric complications, such as miscarriage, threatened miscarriage, preterm labor, preterm birth, and a higher caesarean section rate. Endometriosis does not seem to influence fetal well-being.
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http://dx.doi.org/10.3390/ijerph17020401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014217PMC
January 2020

Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study.

Eur Radiol 2020 Apr 3;30(4):2161-2170. Epub 2020 Jan 3.

Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy.

Objectives: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV).

Methods: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated).

Results: Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4-96.6%), specificity of 80.8% (95% CI, 60.6-93.4%), positive predictive value of 76% (95% CI, 58.7-87.8%), and negative predictive value of 87.5% (95% CI, 70.9-95.2%).

Conclusions: MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases.

Key Points: • Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. • A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. • The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the "cerebellar tail sign" has a sensitivity of 84.21% (95% CI, 60.4-96.6%) and specificity of 80.8% (95% CI, 60.6-93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.
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http://dx.doi.org/10.1007/s00330-019-06538-5DOI Listing
April 2020

Imaging before cytoreductive surgery in advanced ovarian cancer patients.

Int J Gynecol Cancer 2020 01 21;30(1):133-138. Epub 2019 Nov 21.

Istituto Imaging Svizzera Italiana, Ente Ospedaliero Cantonale, Lugano, TI, Switzerland.

Appropriate and accurate pre-operative imaging in epithelial ovarian cancer patients may allow selection of patients that may mostly benefit either from primary cytoreductive surgery or from neoadjuvant chemotherapy. If the patient is considered suitable for upfront surgery, pre-operative imaging may help in planning the surgical approach, to forecast the operating time, and to estimate the need for other consulting specialists. Currently, computed tomography (CT) imaging is the standard of care for pre-operative evaluation of ovarian cancer patients; however, advanced magnetic resonance imaging (MRI) is emerging as a technique that may overcome the limitations of CT imaging, especially for small peritoneal deposits in difficult-to-resect sites. Positron emission tomography (PET)-CT imaging in the pre-operative setting is currently limited, whereas the use of the new hybrid technique PET-MRI is still under evaluation. Since criteria that may preclude optimal cytoreductive surgery may vary, depending on the aggressiveness of the surgical procedure and surgeon skill, multidisciplinary consensus conferences are the ideal platform to evaluate extent of the disease and surgical strategy.
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http://dx.doi.org/10.1136/ijgc-2019-000819DOI Listing
January 2020

Rescue of Replication-Competent ZIKV Hidden in Placenta-Derived Mesenchymal Cells Long After the Resolution of the Infection.

Open Forum Infect Dis 2019 Oct 9;6(10):ofz342. Epub 2019 Oct 9.

Laboratory of Virology, National Institute for Infectious Diseases "L. Spallanzani," IRCCS, Rome, Italy.

The Zika virus (ZIKV) genome, its negative-strand viral proteins, and virus-like particles were detected in placenta-derived mesenchymal cells (MSCs), indicating that ZIKV persists after virus clearance from maternal blood and can be rescued by in vitro cultivation. We report for the first time the presence of replication-competent ZIKV in MSCs from an asymptomatic woman who acquired infection during pregnancy.
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http://dx.doi.org/10.1093/ofid/ofz342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785694PMC
October 2019

Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

J Clin Ultrasound 2020 Jan 22;48(1):48-51. Epub 2019 Oct 22.

Department of Maternal and Child Health and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.

Cleft lip and cleft palate (CP) are the most common facial malformations. Two-dimensional (2D) ultrasound (US) is the first-line examination in the prenatal diagnosis of CP. Three-dimensional, four-dimensional US and MRI provide a better detection of facial clefts. We present two fetuses with micrognathia and suspected secondary CP on 2D US: fetal tongue appeared in an unusual position (low tip and high dorsum position) and showed uncoordinated movements. MRI did not confirm the US suspicion, but at birth the two fetuses were affected by Pierre Robin sequence.
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http://dx.doi.org/10.1002/jcu.22784DOI Listing
January 2020

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Science 2019 10 17;366(6464):454-460. Epub 2019 Oct 17.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in developmental patterns between humans and mice include spatiotemporal expansion of both ventricular and rhombic lip primary progenitor zones to include subventricular zones containing basal progenitors. The human rhombic lip persists longer through cerebellar development than in the mouse and undergoes morphological changes to form a progenitor pool in the posterior lobule, which is not seen in other organisms, not even in the nonhuman primate the macaque. Disruptions in human rhombic lip development are associated with posterior cerebellar vermis hypoplasia and Dandy-Walker malformation. The presence of these species-specific neural progenitor populations refines our insight into human cerebellar developmental disorders.
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http://dx.doi.org/10.1126/science.aax7526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6897295PMC
October 2019

Congenital jugular vein phlebectasia or aneurysma: A rare entity in prenatal diagnosis.

J Obstet Gynaecol Res 2019 Nov 20;45(11):2289-2292. Epub 2019 Aug 20.

Department of Maternal and Child Health and Urologic Sciences, "Sapienza" University of Rome, Policlinico Umberto I Hospital, Rome, Italy.

Vascular malformations arising from the wall of the external jugular vein are rare and appeared most commonly in pediatric population. Here, we present a case of vascular malformation in the left external jugular vein diagnosed in a fetus during third trimester ultrasound. This is the first described case in prenatal diagnosis.
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http://dx.doi.org/10.1111/jog.14091DOI Listing
November 2019
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