ATRX公司
血管平滑肌脂肪瘤
病理
医学
上皮样细胞
免疫组织化学
清除单元格
肾
生物
内科学
突变
生物化学
基因
作者
Rayan Rammal,Dimitrios Korentzelos,John M Skaugen,Gabriela M Quiroga-Garza
出处
期刊:American Journal of Clinical Pathology
[Oxford University Press]
日期:2023-01-20
摘要
Abstract Objectives Epithelioid angiomyolipoma (EAML, perivascular epithelioid cell tumor ) is an uncommon primary renal tumor that may recur or metastasize, although there remain limited data for prediction of these outcomes. Here, we report two cases of renal EAML with molecular testing, adding to the existing literature of potential alterations associated with malignant behavior. Methods Tumors diagnosed as malignant renal EAML were identified, and clinical data, radiology, histology, immunohistochemistry, and molecular testing results were reviewed. Results Two cases of malignant renal EAML were identified, both of which demonstrated TSC2 and TP53 mutations. In ATRX, one had a mutation and the other had a variant of uncertain significance. In addition, one patient had a synchronous classic angiomyolipoma that lacked TP53 and ATRX alterations. Conclusions These findings highlight the molecular landscape of malignant renal EAML and expand on the existing literature suggesting a role for TP53 and ATRX alterations in malignant progression of these tumors. The presence of synchronous benign and malignant tumors within the same patient offers a unique opportunity to directly compare the molecular alterations, further supporting the association with aggressive behavior.
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