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Fetal Pediatr Pathol 2022 Jun 23:1-6. Epub 2022 Jun 23.

Department of Pathology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Introduction: Pigmented epithelioid angiomyolipoma is a variant of epithelioid angiomyolipoma (EAML) that has not previously been described in children with tuberous sclerosis.

Case Presentation: A 15-year-old boy with tuberous sclerosis had a rapidly enlarging renal mass associated with a left lung nodule. Microscopically it was a pigmented EAML, confirmed by immunohistochemistry. Read More

Abdom Radiol (NY) 2022 Jun 13. Epub 2022 Jun 13.

Department of Radiology, Seoul National University Hospital, Seoul, Korea.

Purpose: This study aims to assess the computed tomography (CT) findings of renal epithelioid angiomyolipoma (EAML) and develop a radiomics-based model for differentiating EAMLs and clear cell renal cell carcinomas (RCCs).

Method: This two-center retrospective study included 28 histologically confirmed EAMLs and 56 size-matched clear cell RCCs with preoperative three-phase kidney CTs. We conducted subjective image analysis to determine the CT parameters that can distinguish EAMLs from clear cell RCCs. Read More

Dis Markers 2022 28;2022:9108129. Epub 2022 May 28.

Department of Radiology, Xijing Hospital, Air Force Medical University, Xi'an, Shaanxi, China.

Objectives: This study is aimed at determining whether CT-based radiomics models can help differentiate renal angiomyolipomas with minimal fat (AMLmf) from other solid renal tumors.

Methods: This retrospective study included 58 patients with a postoperative pathologically confirmed AMLmf (observation group) and 140 patients with other common renal tumors (control group). Non-contrast-enhanced CT and contrast-enhanced CT data were evaluated. Read More

World J Clin Cases 2022 Apr;10(12):3886-3892

Department of Urology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China.

Background: Giant renal angiomyolipomas (AMLs) may lead to complications including flank pain, hematuria, hypertension, retroperitoneal hemorrhage and even death. Giant AMLs which grow around renal hilar vessels and the ureter are rare. Most previous reports on the treatment of giant renal AMLs have focused on open surgery or a transperitoneal approach, with few studies on the retroperitoneal approach for large AMLs. Read More

J Radiol Case Rep 2021 Aug 1;15(8):18-26. Epub 2021 Aug 1.

Nova Southeastern University College of Medicine, Florida, USA.

We report the case of a 45-year-old woman who presented with a large palpable abdominal mass. Initial sonographic and computed tomographic studies prompted a differential diagnosis of retroperitoneal or renal sarcoma, leiomyoma, and lipid-poor angiomyolipoma. A final diagnosis of renal leiomyoma was reached based on a consensus among radiology, surgery and pathology. Read More

J Kidney Cancer VHL 2022 22;9(2):13-18. Epub 2022 Apr 22.

Division of Surgical Oncology, Rutgers Cancer Institute of New Jersey and Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

Renal angiomyolipomas (AMLs) are a subset of perivascular epithelioid cell neoplasms (PEComas) that are associated with tuberous sclerosis complex (TSC). Epithelioid angiomyolipomas (EAMLs) are a rare variant of AML with more aggressive propensities. EAMLs with malignant potential can be difficult to distinguish from relatively benign AMLs and other renal tumors. Read More

Orphanet J Rare Dis 2022 05 16;17(1):203. Epub 2022 May 16.

Division of Life Sciences and Medicine, Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, 230001, Anhui, China.

Background: Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.

Methods: After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. Read More

Cold Spring Harb Mol Case Stud 2022 04 28;8(3). Epub 2022 Apr 28.

Department of Pathology, University of Otago, Dunedin 9016, New Zealand.

Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the (hamartin) or more frequently (tuberin) genes are causative for TSC. The malignant manifestations of TSC, pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML), may also occur as independent sporadic perivascular epithelial cell tumor (PEComa) characterized by somatic mutations. Read More

BJUI Compass 2022 Jan 31;3(1):86-92. Epub 2021 Aug 31.

Department of Urology, Urological Research Unit Copenhagen University Hospital - Rigshospitalet Copenhagen Denmark.

Objectives: To study safety and efficacy of selective endovascular trans-arterial embolization (TAE) of renal angiomyolipoma (AML) in a 10-year period at a regional tertiary referral center in Denmark.

Patients And Methods: All 56 patients who underwent TAE of renal AML at Departments of Urology and Radiology, Copenhagen University Hospital - Rigshospitalet, Denmark, from 2009 to 2020 were included. Seven without preoperative and postoperative imaging were excluded, leaving 49 patients for analysis. Read More

Cureus 2022 Apr 7;14(4):x24. Epub 2022 Apr 7.

College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAU.

J Med Case Rep 2022 Apr 22;16(1):168. Epub 2022 Apr 22.

Department of Medical Imaging, Chi Mei Medical Center, 901, Chung-Hwa Road, Yung-Kang, Tainan, 710, Taiwan.

Background: Renal adenomatosis is a rare disease that presents as multiple papillary adenomas in the bilateral kidneys. Moreover, papillary adenoma is considered a precursor to papillary renal cell carcinoma. Therefore, patients with renal adenomatosis may have higher risk of developing malignancy than patients without this benign condition. Read More

Radiologe 2022 May 20;62(5):439-450. Epub 2022 Apr 20.

Institut für Diagnostische und Interventionelle Radiologie, Universitätsklinikum Brandenburg an der Havel - Medizinische Hochschule Brandenburg Theodor Fontane, Hochstraße 29, 14770, Brandenburg an der Havel, Deutschland.

For masses of the spleen, which are mostly benign, accessory spleens, cysts and hemangiomas should be radiologically described; however, if confirmed further follow-up control is unnecessary. In the case of disseminated small masses, chronic inflammation and granulomatous diseases, such as tuberculosis and sarcoidosis should be considered in the differential diagnostics. Solid masses in the kidneys should always be further clarified, with the exception of a fat-rich angiomyolipoma. Read More

BMC Med 2022 04 20;20(1):123. Epub 2022 Apr 20.

Neuroscience and Mental Health Research Institute, Hadyn Ellis Building, Cardiff, CF24 4HQ, UK.

Background: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardiac tumour (rhabdomyoma), neurodevelopmental disorders (NDDs) and kidney disorders (KD) are common manifestations of TSC and have been linked with TSC1 and TSC2 loss-of-function mutations independently, but the dynamic relationship between these organ manifestations remains unexplored. Therefore, this study aims to characterise the nature of the relationship specifically between these three organs' manifestations in TSC1 and TSC2 mutation patients. Read More

BMC Med Genomics 2022 04 15;15(1):85. Epub 2022 Apr 15.

Discipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.

In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Read More

Abdom Radiol (NY) 2022 Jun 15;47(6):2178-2186. Epub 2022 Apr 15.

Department of Urology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8510, Japan.

Purpose: To investigate the utility of radiomics features of diffusion-weighted magnetic resonance imaging (DW-MRI) to differentiate fat-poor angiomyolipoma (fpAML) from clear cell renal cell carcinoma (ccRCC).

Materials And Methods: This multi-institutional study included two cohorts with pathologically confirmed renal tumors: 65 patients with ccRCC and 18 with fpAML in the model development cohort, and 17 with ccRCC and 13 with fpAML in the external validation cohort. All patients underwent magnetic resonance imaging (MRI) including DW-MRI. Read More

Quant Imaging Med Surg 2022 Apr;12(4):2332-2343

Department of Radiology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.

Background: Chromophobe renal cell carcinoma (chRCC) is often confused with oncocytoma and angiomyolipoma without visible fat (AML.wovf). The aim of this study was to determine computed tomography (CT) features predictive of chRCC to distinguish it from oncocytoma and AML. Read More

Cureus 2022 Feb 28;14(2):e22678. Epub 2022 Feb 28.

Urology, University Hospital Limerick, Limerick, IRL.

The aim of this review is to evaluate the current evidence regarding the best management in terms of active surveillance of angiomyolipoma (AML) cases less than 4 cm, particularly the optimal timing of active surveillance. In addition, we aimed to describe their initial size, clinical presentation, and growth rates. The present systematic review included prospective and retrospective studies that evaluated and followed up patients with AML through active surveillance. Read More

Front Oncol 2022 10;12:852859. Epub 2022 Mar 10.

Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, United States.

The tuberous sclerosis complex (TSC) is a rare genetic syndrome and multisystem disease resulting in tumor formation in major organs. A molecular hallmark of TSC is a dysregulation of the mammalian target of rapamycin (mTOR) through loss-of-function mutations in either tumor suppressor or . Here, we sought to identify drug vulnerabilities conferred by TSC2 tumor-suppressor loss through cell-based chemical biology screening. Read More

Orphanet J Rare Dis 2022 03 15;17(1):124. Epub 2022 Mar 15.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Background: Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to monitor these thoracoabdominal findings, but imaging is not uniformly done across centers. Read More

J Vasc Interv Radiol 2022 Jun 9;33(6):660-667. Epub 2022 Mar 9.

Auckland City Hospital, Auckland, New Zealand; University of Auckland, Auckland, New Zealand.

Purpose: To investigate the safety and efficacy of an aqueous polyethylene glycol-based liquid embolic agent, Embrace Hydrogel Embolic System (HES), in the treatment of benign and malignant hypervascular tumors.

Materials And Methods: A prospective, single-arm, multicenter study included 8 patients, 5 males and 3 females, with a median age of 58.5 years (30-85 years), who underwent embolization in 8 tumors between October 2019 and May 2020. Read More

Rom J Morphol Embryol 2021 Jul-Sep;62(3):663-670

Pathology Unit, Department of Medical and Surgical Sciences, University of Cantabria, Santander, Spain;

Renal oncocytoma (RO) is a distinctive neoplasm with a well-recognized gross and cytoarchitectural appearance. However, on some occasions, it may show uncommon, atypical, or worrisome gross and microscopic features potentially generating diagnostic difficulties. We herein review the oncocytoma variant characterized by a significant intraneoplastic xanthomatous reaction that produces a variegated macroscopic appearance. Read More

Praxis (Bern 1994) 2022 ;111(3):123-129

Zentrum für Mikrotherapie, Klinik Hirslanden, Zürich.

CME-Sonography 104: Angiomyolipomas Angiomyolipomas are the most common benign kidney tumors. Approximately 80 % are spontaneously occurring tumors, the majority <1.0 cm (approximately 54 %). Read More

Am J Case Rep 2022 Mar 1;23:e935407. Epub 2022 Mar 1.

Department of Pathology and Laboratory Medicine, East Carolina University/Vidant Medical Center, Greenville, NC, USA.

BACKGROUND The co-occurrence of renal oncocytoma and angiomyolipoma is exceedingly rare. To date, 17 such cases have been reported in the literature. This report describes a unique case of that association that presented as a single renal mass on imaging. Read More

Ultrasound Med Biol 2022 05 23;48(5):887-894. Epub 2022 Feb 23.

Department of Radiology, University of Minnesota, Minneapolis, Minnesota, USA. Electronic address:

A retrospective single-center study was performed to assess the performance of ultrasound image-based texture analysis in differentiating angiomyolipoma (AML) from renal cell carcinoma (RCC) on incidental hyperechoic renal lesions. Ultrasound reports of patients from 2012 to 2017 were queried, and those with a hyperechoic renal mass <5 cm in diameter with further imaging characterization and/or pathological correlation were included. Quantitative texture analysis was performed using a model including 18 texture features. Read More

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Urology, PGIMER, Chandigarh, India.

J Kidney Cancer VHL 2022 28;9(1):42-47. Epub 2022 Jan 28.

Division of Hematology and Oncology, Department of Medicine, University of Cincinnati, Cincinnati, OH, USA.

Renal angiomyolipoma (rAML) occurs rarely sporadically but is commonly encountered in patients with tuberous sclerosis complex and lymphangioleiomyomatosis. rAML is a rare entity, not seen regularly in daily practice; however, is commonly encountered and diagnosed by clinicians who approach and treat kidney masses. Basic knowledge of this entity is necessary to recognize that despite being benign, these tumors can rarely cause deadly complications such as hemorrhage or severe renal dysfunction or may have malignant components associated with them. Read More

Eur Radiol 2022 Jul 6;32(7):4919-4930. Epub 2022 Feb 6.

Department of Diagnostic Radiology, City of Hope National Medical Center, Duarte, CA, USA.

Objectives: To identify specific imaging and clinicopathological features of a rare potentially malignant epithelioid variant of renal lipid-poor angiomyolipoma (E-lpAML).

Methods: A total of 20 patients with E-lpAML and 43 patients with other lpAML were retrospectively included. Multiphase computed tomography (CT) imaging features and clinicopathological findings were recorded. Read More

J Kidney Cancer VHL 2022 21;9(1):33-41. Epub 2022 Jan 21.

Department of Urology, School of Medicine, Universidad Nacional de Colombia, Bogotá, Colombia.

Treatment of renal angiomyolipoma (AML) seeks to reduce related complications and preserve kidney function. The purpose of this article was to perform an updated literature review on the diagnosis, therapeutic options, and criteria for invasive intervention in patients with renal AML. Computerized tomography is the standard diagnostic method for renal AML, while definitive diagnosis is made by histopathology. Read More

Cytopathology 2022 Jul 9;33(4):534-539. Epub 2022 Feb 9.

Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Angiomyolipoma, a perivascular epithelioid cell tumour, is easily identifiable as a benign tumour in the kidneys. However, when occurring in extrarenal sites it can mimic malignancy (Cancer Cytopathol. 2017;125:257). Read More

J Pathol 2022 06 29;257(2):158-171. Epub 2022 Mar 29.

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

GPNMB (glycoprotein nonmetastatic B) and other TFE3/TFEB transcriptional targets have been proposed as markers for microphthalmia (MiT) translocation renal cell carcinomas (tRCCs). We recently demonstrated that constitutive mTORC1 activation via TSC1/2 loss leads to increased activity of TFE3/TFEB, suggesting that the pathogenesis and molecular markers for tRCCs and TSC1/2-associated tumors may be overlapping. We examined GPNMB expression in human kidney and angiomyolipoma (AML) cell lines with TSC2 and/or TFE3/TFEB loss produced using CRISPR-Cas9 genome editing as well as in a mouse model of Tsc2 inactivation-driven renal tumorigenesis. Read More