Malignant melanotic Xp11 neoplasms exhibit a clinicopathologic spectrum and gene expression profiling akin to alveolar soft part sarcoma: a proposal for reclassification
Malignant melanotic Xp11 neoplasms exhibit a clinicopathologic spectrum and gene expression profiling akin to alveolar soft part sarcoma: a proposal for reclassification
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恶性黑色素 Xp11 肿瘤表现出类似于肺泡软组织肉瘤的临床病理学谱和基因表达谱：重新分类的建议
DOI：
10.1002/path.5470
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发表时间：
2020-07-02
影响因子：
7.3
通讯作者：
Rao, Qiu
中科院分区：
文献类型：
--
作者：
Wang, Xiao-tong;Fang, Ru;Rao, Qiu
最初被描述为“ XP11易位性周围性上皮细胞肿瘤（Pecoma）”的独特的间充质肿瘤的分类，以及最近提出了挑战和争议。我们收集了迄今为止最大的系列，我们收集了27种黑色素XP11肿瘤，以进行全面的评估。其中14例与八个肺泡软部分肉瘤（ASP）一起，将九个常规pecomas和一个由7个正常组织组成的对照组提交给RNA测序。 22例患者可获得的随访显示5年的总生存期和5年无病生存率分别为47.6和35.7％，它们与ASP相似，并且比常规pecoma明显差。发现位置的单变量分析（发生在肾脏与不是肾脏），浸润性生长模式，核多态性，有丝分裂活性> = = 2/50高培训场（HPF），坏死和淋巴血管侵袭与整体生存和/或无疾病的生存相关。多变量分析确定，位置是与无疾病生存独立相关的唯一因素。更重要的是，基于RNA测序的聚类分析隔离了黑色素XP11肿瘤和其他肿瘤的ASP，包括常规的Pecoma和XP11易位肾细胞癌，并形成了代表在很大程度上相似表达式的紧凑型聚类。在这里，我们清楚地定义了黑色素XP11肿瘤的真实生物学性质，这些肿瘤是独特的恶性间充质肿瘤，而不是简单地具有偶尔具有不可预测行为的pecoma变体。同时，黑色素XP11肿瘤和ASP更有可能代表同一实体的表型变异，这与常规的Pecoma和XP11易位肾细胞癌不同。基于这些重要发现，在当前的软组织和骨骼的肿瘤类别的未来修订中，可以将黑色素XP11肿瘤与独立于Pecoma的ASP一起重新分类为独特的实体，以改善重新分类。 （c）2020年大不列颠和爱尔兰的病理学会。由约翰·威利（John Wiley＆Sons）有限公司出版。
The classification of the distinct group of mesenchymal neoplasms, first described as 'Xp11 translocation perivascular epithelioid cell tumor (PEComa)' and for which the term 'melanotic Xp11 neoplasm' or 'Xp11 neoplasm with melanocytic differentiation' has recently been proposed, remains challenging and controversial. We collected 27 melanotic Xp11 neoplasms, the largest series to date, for a comprehensive evaluation. Fourteen of the cases, together with eight alveolar soft part sarcomas (ASPS), nine conventional PEComas and a control group of seven normal tissues were submitted to RNA sequencing. Follow-up available in 22 patients showed 5-year overall survival and 5-year disease-free survival of 47.6 and 35.7%, respectively, which were similar to ASPS and significantly worse than conventional PEComa. Univariate analysis of location (occurring in the kidney versus not kidney), infiltrative growth pattern, nuclear pleomorphism, mitotic activity >= 2/50 high-power fields (HPF), necrosis and lymphovascular invasion were found to be associated with overall survival and/or disease-free survival. Multivariate analysis identified that location was the only factor found to independently correlate with disease-free survival. More importantly, RNA sequencing-based clustering analysis segregated melanotic Xp11 neoplasm and ASPS from other tumors, including conventional PEComa and Xp11 translocation renal cell carcinoma, and formed a compact cluster representative of the largely similar expression signature. Here we clearly define the true biologic nature of melanotic Xp11 neoplasms which are distinctive malignant mesenchymal tumors, rather than simply PEComa variants with occasionally unpredictable behavior. Meanwhile, melanotic Xp11 neoplasm and ASPS more likely represent phenotypic variants of the same entity, which is distinct from conventional PEComa and Xp11 translocation renal cell carcinoma. Based on these important findings, melanotic Xp11 neoplasm might be reclassified into a distinctive entity together with ASPS, independent from PEComa, in future revisions of the current WHO categories of tumors of soft tissue and bone for the improved reclassification. (c) 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.