研究动态
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恶性肾上皮样血管平滑肌脂肪瘤的分子特征化。

Molecular Characterization of Malignant Renal Epithelioid Angiomyolipoma.

发表日期:2023 Jan 20
作者: Rayan Rammal, Dimitrios Korentzelos, John M Skaugen, Gabriela M Quiroga-Garza
来源: AMERICAN JOURNAL OF CLINICAL PATHOLOGY

摘要:

上皮样血管肌脂肪瘤(EAML,周围血管上皮样细胞肿瘤)是一种罕见的原发性肾肿瘤,可能会复发或转移,尽管目前仅有有限的数据可用于预测这些结果。在这里,我们报告两例进行分子检测的肾EAML病例,为现有文献中与恶性行为相关的潜在变化增添了一份证据。肾恶性EAML诊断为恶性肿瘤,回顾了临床数据、影像学、组织学、免疫组织化学和分子检测结果。鉴定出两例恶性肾EAML,两者均表现出TSC2和TP53突变。ATRX中,一例有突变,另一例有未确定意义的变异。此外,一位患者具有同步的经典血管肌脂肪瘤,缺乏TP53和ATRX的变化。这些发现突出了恶性肾EAML的分子景观,并扩展了现有文献,表明TP53和ATRX变化在这些肿瘤的恶性进展中起到了作用。同一患者内存在良性和恶性肿瘤的同步存在,为直接比较分子变化提供了独特的机会,进一步支持了与侵袭性行为的关联。©作者(2023年)版权归牛津大学出版社代表美国临床病理学会所有。保留所有权利。请发邮件至journals.permissions@oup.com以获取权限。
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.© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.