恶性肾脏上皮样血管平滑肌脂肪瘤的分子特征：两例病例的综述
Molecular Characterization of Malignant Renal Epithelioid Angiomyolipoma: A Review of Two Cases
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影响因子:1.9
分区:医学4区 / 病理学3区
发表日期:2023 Mar 13
作者:
Rayan Rammal, Dimitrios Korentzelos, John M Skaugen, Gabriela M Quiroga-Garza
DOI:
10.1093/ajcp/aqac152
摘要
上皮样血管平滑肌脂肪瘤（EAML，血管周围上皮样细胞肿瘤）是一种罕见的原发性肾脏肿瘤，可能复发或转移，尽管关于其预后的预测数据有限。在此，我们报告两例伴有分子检测的肾脏EAML病例，丰富现有文献中与恶性行为相关的潜在遗传变异。筛选出被诊断为恶性肾脏EAML的肿瘤，回顾临床资料、影像学、组织学、免疫组化及分子检测结果。共识别出两例恶性肾脏EAML，均表现出TSC2和TP53基因突变。一例在ATRX基因中发现突变，另一例则为不确定意义的变异。此外，还有一名患者伴有同步发生的经典血管平滑肌脂肪瘤，未见TP53和ATRX变异。这些发现揭示了恶性肾脏EAML的分子景观，扩展了现有文献，支持TP53和ATRX变异在这些肿瘤恶性进展中的作用。同一患者中同步存在良性与恶性肿瘤，提供了直接比较分子变异的独特机会，进一步支持其与肿瘤侵袭性行为的相关性。
Abstract
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.Tumors diagnosed as malignant renal EAML were identified, and clinical data, radiology, histology, immunohistochemistry, and molecular testing results were reviewed.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.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.