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Kun-Han Lee, Han-Yu Tsai, Yu-Ting Kao, Hsin-Chia Lin, Yi-Chun Chou, Shih-Huan Su, Cheng-Keng Chuang
OBJECTIVES: To analyze and present the demography, clinical behavior, especially the risk factors of tumor hemorrhage and management of sporadic angiomyolipoma (SAML), tuberous sclerosis complex associated angiomyolipoma (TSCAML) and epithelioid angiomyolipoma (EAML) in our institution. METHODS: A retrospective study of 587 patients who were diagnosed with renal angiomyolipoma in our institution between January 2000 and May 2015 was done. The AMLs were diagnosed by ultrasonography, CT, or MRI...
March 14, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Yulian Mytsyk, Victor Dosenko, Yuriy Borys, Askold Kucher, Katarina Gazdikova, Dietrich Busselberg, Martin Caprnda, Peter Kruzliak, Ammad Ahmad Farooqi, Manyuk Lubov
INTRODUCTION: Currently, there is no accurate diagnostic molecular biomarker for renal cell carcinoma (RCC). The aim of this study was to assess the expression of microRNA-15a (miR-15a) in urine of patients with RCC and to evaluate its potential as a diagnostic molecular biomarker. MATERIALS AND METHODS: In total, 67 patients with solid renal tumors were enrolled: clear-cell RCC (ccRCC, n = 22), papillary RCC (pRCC, n = 16), chromophobe RCC (chRCC, n = 14), oncocytoma (n = 8), papillary adenoma (n = 2) and angiomyolipoma (n = 5)...
March 16, 2018: International Urology and Nephrology
Carla Lorena Vasques Mendes de Miranda, Camila Soares Moreira de Sousa, Breno Braga Bastos, Carla Valeria Vasques Mendes de Miranda, Francisco Edward Mont'Alverne Filho
No abstract text is available yet for this article.
January 2018: Radiologia Brasileira
Yi Cai, Wenda Wang, Hao Guo, Hanzhong Li, Yu Xiao, Yushi Zhang
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by tumor formation in multiple organs, with over 80% of TSC patients developing angiomyolipomas (TSC-AMLs). However, the molecular events that contribute to TSC-AMLs are not well understood. Recent reports have demonstrated that microRNAs (miRNAs) are critical in TSC cortical tubers. However, little is known about the role of miRNAs in TSC-AMLs. In the current study, we analyzed changes in the miRNA and mRNA profiles in TSC-AMLs and matched normal adjacent tissues...
March 14, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
Xinying Cong, Jin Zhang, Xiaojuan Xu, Miaomiao Zhang, Yan Chen
OBJECTIVE: The aim of the study was to analyze MR imaging features of renal epithelioid angiomyolipoma (EAML). METHODS: This study included 17 patients with histopathologically confirmed renal EAML who underwent renal MRI scanning before radical or partial nephrectomy. MR images were retrospectively reviewed and correlated with pathological findings. RESULT: Fifteen lesions (88.2%) appeared as round or oval. The tumor-kidney interface was round in 14 lesions (82...
March 10, 2018: Abdominal Radiology
Zhen Yan, James P Grenert, Nancy M Joseph, Chuanli Xu, Xin Chen, Nafis Shafizadeh, Sanjay Kakar
AIMS: Hepatic angiomyolipoma (AML) often shows epithelioid morphology with inconspicuous fat. Epithelioid component can mimic hepatocellular adenoma (HCA) or carcinoma (HCC). The aims were to examine the expression of commonly used markers for HCA or HCC in hepatic AML, and highlight pitfalls in diagnosis. METHODS AND RESULTS: Resected hepatic AML (n=16) were reviewed; reticulin stain, immunohistochemistry for GS, β-catenin, LFABP were performed along with Sanger sequencing of exon 3 of CTNNB1 and next generation sequencing (NGS)...
March 7, 2018: Histopathology
Jianguo Zhu, Haige Li, Liucheng Ding, Hongyong Cheng
RATIONALE: Epithelioid angiomyolipoma (EAML) is an extremely rare disease. It commonly occurs in middle-aged females and mainly involves the kidney. Histological and immunohistochemical examination play important roles in differentiating EAML from renal cell carcinoma (RCC) and poor-fat angiomyolipoma (AML). PATIENT CONCERNS: Here, We report the imaging phenotype, as well as the pathological findings of a case of EAML in a 39-year-old female. DIAGNOSES: Preoperative noncontrast computed tomography (CT) scan revealed a 6...
January 2018: Medicine (Baltimore)
Francesca Becherucci, Paola Romagnani
No abstract text is available yet for this article.
April 2018: Nature Reviews. Nephrology
Robert S Lim, Matthew D F McInnes, Mahadevaswamy Siddaiah, Trevor A Flood, Luke T Lavallee, Nicola Schieda
PURPOSE: To evaluate previously described growth patterns in < 4 cm solid renal masses. MATERIALS AND METHODS: With IRB approval, 63 renal cell carcinomas (RCC; clear cell n = 22, papillary n = 28, chromophobe n = 13) and 36 benign masses [minimal-fat (mf) angiomyolipoma (AML) n = 13, oncocytoma n = 23) from a single institution were independently evaluated by two blinded radiologists (R1/R2) using T2-weighted MRI for (1) the angular interface sign (AIS), (2) bubble-over sign (BOS), (3) percentage (%) exophytic growth and (4) long-to-short axis ratio...
February 28, 2018: European Radiology
Qian Shi, Suryavathi Viswanadhapalli, William E Friedrichs, Chakradhar Velagapudi, Cédric Szyndralewiez, Shweta Bansal, Manzoor A Bhat, Goutam Ghosh Choudhury, Hanna E Abboud
The mechanism by which TSC2 inactivation or deficiency contributes to the pathology of tuberous sclerosis complex (TSC) is not fully clear. We show that renal angiomyolipomas from TSC patients and kidney cortex from Tsc2+/- mice exhibit elevated levels of reactive oxygen species (ROS). Downregulation of tuberin (protein encoded by TSC2 gene) in renal proximal tubular epithelial cells significantly increased ROS concomitant with enhanced Nox4. Similarly, we found elevated levels of Nox4 in the renal cortex of Tsc2+/- mice and in the renal angiomyolipomas from TSC patients...
February 28, 2018: Scientific Reports
Evgeny N Suspitsin, Grigoriy A Yanus, Marina Yu Dorofeeva, Tatiana A Ledashcheva, Nataliya V Nikitina, Galina V Buyanova, Elena V Saifullina, Anna P Sokolenko, Evgeny N Imyanitov
Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with definite (n = 53) or probable (n = 8) clinical diagnosis of TS were tested for mutations in TSC1 and TSC2 genes using Sanger sequencing and MLPA analysis. Five TSC1/2 mutation-negative patients were further analyzed by exome sequencing...
February 23, 2018: Journal of Human Genetics
Hansang Lee, Helen Hong, Junmo Kim, Dae Chul Jung
PURPOSE: To develop an automatic deep feature classification (DFC) method for distinguishing benign angiomyolipoma without visible fat (AMLwvf) from malignant clear cell renal cell carcinoma (ccRCC) from abdominal contrast-enhanced computer tomography (CE CT) images. METHODS: A dataset including 80 abdominal CT images of 39 AMLwvf and 41 ccRCC patients was used. We proposed a DFC method for differentiating the small renal masses (SRM) into AMLwvf and ccRCC using the combination of hand-crafted and deep features, and machine learning classifiers...
February 23, 2018: Medical Physics
Byung Kwan Park
No abstract text is available yet for this article.
March 2018: AJR. American Journal of Roentgenology
Binit Sureka, Pushpinder Singh Khera
No abstract text is available yet for this article.
March 2018: AJR. American Journal of Roentgenology
Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian, Kai-Feng Xu
BACKGROUND: Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients. METHODS: We analyzed data from 98 patients who were diagnosed with definite or probable sporadic LAM based on the European Respiratory Society diagnosis criteria for LAM in 2010 at Peking Union Medical College Hospital and who had received sirolimus during January 2007 to June 2015...
February 20, 2018: Orphanet Journal of Rare Diseases
I Cockerell, M Guenin, K Heimdal, M Bjørnvold, K K Selmer, O Rouvière
BACKGROUND: Renal angiomyolipomas (AMLs) are a major clinical feature in patients with tuberous sclerosis complex (TSC). Spontaneous bleeding can be life threatening, and appropriate information and proper surveillance and management are important to limit morbidity and mortality. Because TSC is a rare disease, patients are at risk of suboptimal medical management. Our aim was to investigate patients' and parents' knowledge about renal angiomyolipomas (AMLs) in Tuberous Sclerosis Complex (TSC) and to identify current routines for renal follow-up...
February 13, 2018: BMC Nephrology
Mohammed Al Sheikh, Nick Simson, Obinna Obi-Njoku, Ahmed Qteishat
A previously healthy 61-year-old Caucasian woman presented to the emergency department after collapsing at home with associated abdominal pain radiating to her back. An urgent CT angiogram was requested to rule out a ruptured aortic aneurysm. This showed a large 21 cm fat-containing lesion arising from the mid-pole of the left kidney, with an adjacent 4 cm perirenal haematoma. An initial diagnosis of a ruptured angiomyolipoma was made. Her haemoglobin was 105 g/L, with a creatinine of 104 mmol/L and an eGFR of 47 mL/min...
February 8, 2018: BMJ Case Reports
Angela Peron, Aglaia Vignoli, Francesca La Briola, Emanuela Morenghi, Lucia Tansini, Rosa Maria Alfano, Gaetano Bulfamante, Silvia Terraneo, Filippo Ghelma, Giuseppe Banderali, David H Viskochil, John C Carey, Maria Paola Canevini
Tuberous Sclerosis Complex (TSC) is a multisystemic condition caused by mutations in TSC1 or TSC2, but a pathogenic variant is not identified in up to 10% of the patients. The aim of this study was to delineate the phenotype of pediatric and adult patients with a definite clinical diagnosis of TSC and no mutation identified in TSC1 or TSC2. We collected molecular and clinical data of 240 patients with TSC, assessing over 50 variables. We compared the phenotype of the homogeneous group of individuals with No Mutation Identified (NMI) with that of TSC patients with a TSC1 and TSC2 pathogenic variant...
February 9, 2018: European Journal of Medical Genetics
Xiaoqi Lin, William B Laskin, Xinyan Lu, Yaxia Zhang
Angiomyolipoma (AML) arises primarily from the kidney, but may grow into the retroperitoneal space mimicking a primary retroperitoneal tumor. Fine needle aspiration (FNA) and core needle biopsy (CNB) of AML, particularly the fat-predominant variant, may be difficult to distinguish from retroperitoneal well-differentiated liposarcoma (WDLS) or lipoma. Commonly used immunomarkers, MDM2 and p16, have proven useful in diagnosing WDLS and dedifferentiated liposarcoma (DDLS), while HMB45 and Melan-A are melanocyte-related markers characteristically expressed in AML...
February 9, 2018: Human Pathology
Hajime Sasaki, Daiki Iwami, Kiyohiko Hotta, Ken Morita, Tomoaki Naka, Nobuo Shinohara
No abstract text is available yet for this article.
February 8, 2018: International Journal of Urology: Official Journal of the Japanese Urological Association
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