<i>ASPSCR1: TFE3</i> Fusion-Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanocytic Markers: A Case Report. [PDF]
ABSTRACT Introduction Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges. Half of these cases harbor TSC1/TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations.
Kondo Y +8 more
europepmc +2 more sources
Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]
ABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A +6 more
europepmc +2 more sources
Renal necrotic epithelioid angiomyolipoma: A case report [PDF]
Epithelioid angiomyolipoma is a rare variant of angiomyolipoma, with necrosis being one of its unfavourable prognostic indicators. We report a 39-year-old woman with necrotic epithelioid angiomyolipoma of the left kidney.
Gede Wirya Kusuma Duarsa +6 more
doaj +2 more sources
Differentiation of Fat-Poor Renal Angiomyolipoma From Clear Cell Renal Cell Carcinoma: Diagnostic Performance of a Novel Type of Color Contrast Enhanced Ultrasound. [PDF]
Our study confirms CPI can distinguish AML.wovf from ccRCC, potentially helping patients with AML.wovf avoid unnecessary surgery. These findings expand CPI's clinical utility, providing a promising tool for diagnosing renal tumors. ABSTRACT Background The similar imaging characteristics of renal angiomyolipoma without visible fat (RAML.wvf) and clear ...
Du Y +5 more
europepmc +2 more sources
1H MR-based detection of human plasma metabolic alterations in clear cell renal cell carcinoma. [PDF]
Abstract Objectives This study aimed to evaluate the potential of plasma‐based proton magnetic resonance spectroscopy (1H‐MRS) for non‐invasive discrimination between clear cell renal cell carcinoma (ccRCC), benign renal masses (angiomyolipoma and oncocytoma) and healthy controls by identifying disease‐specific metabolic signatures.
Sharma RK +6 more
europepmc +2 more sources
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. [PDF]
INTRODUCTION:The EXIST-2 (NCT00790400) study demonstrated the superiority of everolimus over placebo for the treatment of renal angiomyolipomas associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM).
John J Bissler +11 more
doaj +1 more source
Hepatic angiomyolipomas are rare benign tumours. First reported by Ishak in 1976. Since then, the world literature showed only 32 cases including 8 autopsy findings. In this paper a retrospective analysis of the published data will be presented and the first report ofthe preoperative colour doppler and intraoperative sonography appearances will also be
Bakhotmah, Mohamad Abid +1 more
openaire +4 more sources
Bleeding angiomyolipoma mimiking a ruptured adrenal tumour
Angiomyolipoma is a benign neoplasm of the kidney, and is the most common renal tumour associated with haemorrhage. Risk of bleeding increases with the size of the angiomyolipoma.
R.B. Nerli +5 more
doaj +1 more source
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that occurs between 1 in 6,000 and 1 in 10,000 live births. Additionally, renal angiomyolipoma is the most common form of renal disease in patients affected by TSC.
Nianyi Zhang +8 more
doaj +1 more source
Angiomyolipoma is a rare benign tumor most commonly found in the kidney and, infrequently, extrarenally. We report a case of pelvic angiomyolipoma in a male patient without stigmata of tuberous sclerosis. The patient presented with right retroperitoneal bleeding and was found to have bilateral renal angiomyolipomas as well as a pelvic mass with similar
Tristan M, Nicholson +2 more
openaire +2 more sources

