Search Our Scientific Publications & Authors

Arch Gynecol Obstet 2021 Jun 11. Epub 2021 Jun 11.

Department of Gynecologic Oncology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 17 Qihelou St, Dongcheng District, Beijing, 100006, China.

Objective: Data on the outcomes of fetus who are exposed to neoadjuvant platinum and paclitaxel chemotherapy during pregnancy are lacking.

Methods: Relevant data were abstracted from patients in our institution, PubMed, Embase and Cochrane Library databases. The primary assessment was the frequency of fetal death and congenital abnormalities. Read More

Ann Surg Oncol 2021 Jun 10. Epub 2021 Jun 10.

Pediatric Surgery, Pediatric Solid Tumor Unit, Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.

J Dermatol 2021 Jun 9. Epub 2021 Jun 9.

Department of Pediatric Hematology-Oncology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

As one of the epidermal nevus syndromes, Schimmelpenning-Feuerstein-Mims (SFM) is characterized by craniofacial nevus sebaceous (NS) and extracutaneous abnormalities (e.g., brain, eyes, and bone). Read More

Int J Gynecol Pathol 2021 Jun 9. Epub 2021 Jun 9.

Department of Pathology, Stanford University School of Medicine, Stanford, California (J.J.W., G.W.C., T.A.L.) Department of Pathology, Surrey Memorial Hospital, Surrey, British Columbia, Canada (D.K.).

In the female genital tract, rhabdomyosarcoma may occur in "pure" form or as a heterologous constituent of a biphasic neoplasm such as carcinosarcoma or adenosarcoma. Discriminating rhabdomyosarcoma from its histologic mimics relies on confirmation of skeletal muscle differentiation by morphology or immunohistochemistry (IHC), which can be challenging to interpret in some cases owing to limited expression. PAX7, a transcription factor expressed in mammalian muscle progenitor cells, has been reported in up to 86% of soft tissue rhabdomyosarcomas by IHC. Read More

Pediatr Dev Pathol 2021 Jun 9:10935266211013621. Epub 2021 Jun 9.

Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA, USA (retired).

For the past 40 years, progress in rhabdomyosarcoma (RMS) has been focused on understanding its molecular basis and characterizing the mutations that drive its tumorigenesis and progression. Genetic predisposition to RMS has allowed discovery of key genetic pathways and driver mutations. Subclassification of RMS into embryonal (ERMS) and alveolar (ARMS) subtypes has shifted from histology to PAX-FOXO1 fusion status, and new driver mutations have been found in spindle cell RMS. Read More

Cancer Treat Res Commun 2021 Jun 2;28:100411. Epub 2021 Jun 2.

Faculty of Medicine, October 6 University, Giza, Egypt.

Glioblastoma is a highly aggressive brain tumor and considered to be the most common primary one. Recurrence after treatment is a significant problem, with a survival rate after one year of about 39.7%. Read More

Pediatr Blood Cancer 2021 Jun 8:e29107. Epub 2021 Jun 8.

Division of Pediatric Surgery, Department of General Surgery, Naval Medical Center San Diego, San Diego, California, USA.

Ovarian tissue cryopreservation is the only fertility preservation (FP) option available to prepubescent females receiving gonadotoxic therapy, but it has limited availability. A 6-year-old female was diagnosed with high-risk rhabdomyosarcoma, and the planned treatment carried an 80% risk of ovarian failure. Her parents desired FP, but the nearest center was 500 miles away. Read More

Pak J Med Sci 2021 May-Jun;37(3):922-925

Prof. Nadia Naseem, MBBS; PhD (Histopathology) Head, Department of Morbid Anatomy and Histopathology, University of Health Sciences, Lahore, Pakistan.

A 26-year-old male was referred to the Department of Oral and Maxillofacial Surgery of a tertiary care hospital in Lahore with chief complaint of painless swelling on the right palate of 40 days duration. Clinical differential diagnosis included squamous cell carcinoma, Ewing sarcoma, fibrosarcoma, neuroblastoma and rhabdomyosarcoma. Computed tomography scan revealed hypodense mass with necrotic changes. Read More

Radiologe 2021 Jun 7. Epub 2021 Jun 7.

Radiologisches Institut, Olgahospital Klinikum Stuttgart, Stuttgart, Deutschland.

Clinical/methodological Issue: Bone and soft tissue tumours are often incidental findings in children. Because they are usually benign tumours, nonspecialised radiologists generally have little experience in the diagnosis and differentiation from malignant tumours. Various imaging techniques are used in the diagnosis of skeletal tumours. Read More

Cancer Genet 2021 May 26;256-257:100-105. Epub 2021 May 26.

Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznan, Poland. Electronic address:

IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (in males). So far only 17 individuals have been diagnosed molecularly with IMAGe syndrome, this patient is the first case of an individual diagnosed with IMAGe and concurrent rhabdomyosarcoma. The patient was born at 30 weeks' gestation and received treatment for hyponatremia and hyperkalemia. Read More

JCO Precis Oncol 2021 11;5. Epub 2021 Jan 11.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.

Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue sarcoma and accounts for 3% of all pediatric cancer. In this study, we investigated germline sequence and structural variation in a broad set of genes in two large, independent RMS cohorts.

Materials And Methods: Genome sequencing of the discovery cohort (n = 273) and exome sequencing of the secondary cohort (n = 121) were conducted on germline DNA. Read More

Mol Ther Nucleic Acids 2021 Jun 20;24:888-904. Epub 2021 Apr 20.

Jagiellonian University Medical College, Faculty of Medicine, Institute of Pediatrics, Department of Transplantation, Wielicka 265, 30-663 Krakow, Poland.

Rhabdomyosarcoma (RMS) is a soft tissue mesenchymal tumor that affects mostly children and adolescents. It originates from the impaired myogenic differentiation of stem cells or early progenitors. SNAIL, a transcription factor that regulates epithelial-to-mesenchymal transition in tumors of epithelial origin, is also a key regulator of RMS growth, progression, and myogenic differentiation. Read More

J Pediatr Urol 2021 May 17. Epub 2021 May 17.

The Department of Urology, Mansoura Urology and Nephrology Center, Mansoura University, Mansoura, Egypt.

Introduction And Objectives: We aim to assess the long-term oncological outcomes of children with bladder/prostate rhabdomyosarcoma (B/P RMS) treated with multiagent chemotherapy as a monotherapy. We hypothesize that a highly select patient subset can be treated with multiagent chemotherapy as a monotherapy and spared the morbidity of local treatment with similar oncological outcomes.

Methods: Patients (≤21-year-old) treated for non-metastatic non-alveolar B/P RMS at a tertiary center and followed for>one year, were retrospectively reviewed. Read More

J Pathol 2021 Jun 4. Epub 2021 Jun 4.

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

The MYOD1 p.L122R somatic mutation was first discovered in a subset of clinically aggressive embryonal rhabdomyosarcomas and has since been described in both pediatric and adult spindle cell/sclerosing rhabdomyosarcomas. Relatively little is known about the clinical, molecular, and histopathological feature of these tumors in children. Read More

J Indian Assoc Pediatr Surg 2021 Mar-Apr;26(2):117-119. Epub 2021 Mar 4.

Department of Pathology, All India Institute of Medical Sciences, Delhi, India.

Pediatric paratesticular mass is common in pediatric surgical practice, and they could be because of an underlying encysted hydrocele, a teratoma, or an epididymal cyst. Furthermore, a malignant lesion such as rhabdomyosarcoma should be ruled out. Rare entities, such as fibrous hamartoma of infancy and cellular angiofibroma, are rarely encountered. Read More

Pediatr Transplant 2021 Jun 2:e14047. Epub 2021 Jun 2.

Pediatric and Transplantation Surgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium.

Background: Living donor liver transplantation is a treatment option for unresectable hepatic tumors in children.

Methods: We enrolled 45 living donor transplantations performed between 1993 and 2018 for liver malignacies, which included hepatoblastoma (n = 33), hepatocellular carcinoma (n = 10), hepatic angiosarcoma (n = 1), and rhabdomyosarcoma (n = 1).

Results: No mortality or major morbidities were encountered in any donor, and the complication rate was 9%. Read More

Int J Clin Oncol 2021 Jun 1. Epub 2021 Jun 1.

Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Background: Rhabdomyosarcoma (RMS), an aggressive soft tissue sarcoma of the skeletal muscle generally affecting children and adolescents, shows extensive heterogeneity in histology, site and age of onset, clinical course, and prognosis. Tumorigenesis of RMS is multifactorial and genetic predisposition together with the family history of cancer may provide critical information to enhance the current knowledge and foster genetic counseling and testing.

Methods: In our study, we evaluated the possible correlation of oncological family history with clinical outcomes in a cohort of RMS 512 patients and treated at the Pediatric Oncology Unit of our Institute. Read More

Int J Mol Sci 2021 May 22;22(11). Epub 2021 May 22.

Department of Pediatric Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

: Spindle cell rhabdomyosarcoma (S-RMS) is a rare tumor that was previously considered as an uncommon variant of embryonal RMS (ERMS) and recently reclassified as a distinct RMS subtype with NCOA2, NCOA1, and VGLL2 fusion genes. In this study, we established a cell line (S-RMS1) derived from a four-month-old boy with infantile spindle cell RMS harboring gene fusion. : Morphological and molecular characteristics of S-RMS1 were analyzed and compared with two RMS cell lines, RH30 and RD18. Read More

J Clin Med 2021 May 9;10(9). Epub 2021 May 9.

Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children, yet little is known about its etiology. Studies that examine either environmental exposures or germline genetic predisposition in RMS have begun to identify factors that contribute to this malignancy. Here, we summarize epidemiological reports of RMS incidence in terms of several factors, including age at diagnosis, biological sex, and geographic location. Read More

Ann Surg Oncol 2021 May 31. Epub 2021 May 31.

Pediatric Surgery, Pediatric Solid Tumor Unit, Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.

Background: Our aim is to show whether the sentinel node procedure (SNP) is recommendable for pediatric patients with extremity rhabdomyosarcoma (RMS). Lymph node metastases are an important prognostic factor in pediatric patients with extremity RMS. Accurate nodal staging is necessary to treat the patient accordingly. Read More

Am J Med Genet A 2021 May 30. Epub 2021 May 30.

Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latter of which are only recently being characterized. We describe eight individuals in total (six unreported cases and two previously reported cases) with somatic KRAS variants and variably associated features. Given the findings of somatic overgrowth (in seven individuals) and vascular or lymphatic malformations (in eight individuals), we suggest mosaic RASopathies (mosaic KRAS variants) be considered in the differential diagnosis for individuals presenting with asymmetric overgrowth and lymphatic or vascular anomalies. Read More

Rep Pract Oncol Radiother 2021 25;26(1):143-148. Epub 2021 Feb 25.

Department of Radiation Oncology, Stony Brook University Hospital, Stony Brook, NY, United States.

Primary hepatic rhabdomyosarcoma is rare, making decisions regarding locoregional management with resection and/or conventional radiation difficult. We present a novel treatment approach for a pediatric patient diagnosed with rhabdomyosarcoma diffusely involving the liver. This patient underwent treatment with yttrium-90 (Y-90) microspheres followed by external beam radiation therapy (EBRT ) to residual disease, interdigitated with systemic chemotherapy. Read More

J Int Med Res 2021 May;49(5):3000605211014360

Center of Clinical Laboratory Diagnosis, ZheJiang QuHua Hospital, QuZhou, ZheJiang, China.

Pleomorphic rhabdomyosarcomas of the uterus (PRMSu) is a rare malignant tumor of the female genital tract. Accurate diagnosis and effective treatment of PRMSu are important. We report an 81-year-old woman who was diagnosed with PRMSu. Read More

Clin Nucl Med 2021 May 26. Epub 2021 May 26.

From the Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University; and Nuclear Medicine and Molecular Imaging Key Laboratory of Sichuan Province; and Academician (Expert) Workstation of Sichuan Province, Luzhou, Sichuan, China.

Abstract: A 48-year-old man presented with a painless enlarging mass on his right thigh for 2 months. He had a history of neurofibromatosis. MRI showed a mass in his right thigh. Read More

J Neuromuscul Dis 2021 May 19. Epub 2021 May 19.

Nemo Sud Clinical Centre for Neuromuscular Disorders, Messina, Italy.

Background: Increasing evidence suggests that Duchenne muscular dystrophy (DMD) gene is involved in the occurrence of different types of cancer. Moreover, development of sarcomas was reported in mdx mice, the murine model of DMD, in older age. So far, nine isolated DMD patients were reported with concomitant cancer, four of whom with rhabdomyosarcoma (RMS), but no systematic investigation was performed about the true incidence of cancer in DMD. Read More

Radiother Oncol 2021 May 20. Epub 2021 May 20.

Department of Radiation Oncology, University of Florida College of Medicine, Jacksonville, FL, United States. Electronic address:

Background & Purpose: In infants with rhabdomyosarcoma, young age is considered an adverse prognostic factor and treatment is often attenuated to reduce side effects. Proton therapy may improve the therapeutic ratio in these patients. We report outcomes in infants with rhabdomyosarcoma treated with proton therapy. Read More

Br J Cancer 2021 May 20. Epub 2021 May 20.

Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Background: p53 plays a key role in the DNA repair process and response to ionising radiation. We sought to determine the clinical phenotype of TP53 mutations and p53 pathway alterations in patients with rhabdomyosarcoma (RMS) and Ewing sarcoma (ES) treated with radiation.

Methods: Of patients with available genomic sequencing, we identified 109 patients with RMS and ES treated to a total of 286 radiation sites. Read More

Mod Pathol 2021 May 20. Epub 2021 May 20.

Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Herein we evaluated a series of 21 embryonal rhabdomyosarcomas of the uterine corpus (ucERMS), a rare neoplasm, to characterize their morphology, genomics, and behavior. Patients ranged from 27 to 73 (median 52) years and tumors from 4 to 15 (median 9) cm, with extrauterine disease noted in two. Follow-up (median 16 months) was available for 14/21 patients; nine were alive and well, four died of disease, and one died from other causes. Read More

Obstet Gynecol Sci 2021 May 13;64(3):336. Epub 2021 May 13.

Clin Exp Dermatol 2021 May 19. Epub 2021 May 19.

Department of Dermatology, University hospital Galway, Galway, Ireland.

Li-Fraumeni Syndrome (LFS) is a recognised cancer predisposition syndrome associated with early onset of multiple cancer types. It was first described in 1969 following the identification of two soft tissue sarcomas in five families with the index case presenting with rhabdomyosarcoma in childhood. The tumour spectrum classically includes a range of soft tissue sarcomas, bone tumours, haematological malignancies, breast cancer and adrenal cortical cancer. Read More