恶性肾上皮类血管肌脂蛋白的分子表征：两例综述
Molecular Characterization of Malignant Renal Epithelioid Angiomyolipoma: A Review of Two Cases
影响因子:1.90000
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
摘要
上皮性血管肌瘤（EAML，血管周围上皮细胞肿瘤）是一种不常见的原发性肾肿瘤，可能会复发或转移，尽管对于预测这些结果的数据仍然有限。在这里，我们报告了两例肾脏EAML和分子测试的病例，增加了与恶性行为相关的潜在变化的文献。鉴定了被诊断为恶性肾脏EAML的肿瘤，以及临床数据，放射学，组织学，组织学，免疫组织化学和免疫组织化学和分子测试结果。突变。在ATRX中，一个具有突变，另一个具有不确定意义的变体。此外，一名患者具有缺乏TP53和ATRX改变的同步经典血管肌瘤。这些发现突出了恶性肾脏EAML的分子景观，并在现有文献上扩展了TP53和ATRX改变这些肿瘤的作用。同一患者内的同步良性和恶性肿瘤的存在为直接比较分子改变提供了独特的机会，从而进一步支持了与侵略行为的关联。
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.