Mesenchymal/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI/SNF-deficient tumors.
Mesenchymal/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI/SNF-deficient tumors.
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DOI：
10.1007/s00428-021-03156-9
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发表时间：
2021-12
期刊：
影响因子：
--
通讯作者：
Klöppel G
中科院分区：
文献类型：
--
作者：
Kasajima A;Konukiewitz B;Schlitter AM;Weichert W;Bräsen JH;Agaimy A;Klöppel G
神经内分泌肿瘤（NEN）的模仿者包括许多重要的陷阱肿瘤。在这里，我们描述了我们在 NEN 的间充质模拟物方面的经验，以说明其谱系，并特别引起人们对一组将上皮样组织学与神经内分泌 (NE-) 特征和特殊遗传异常相结合的间充质/非上皮肿瘤 (MN) 的关注。在 2009 年至 2021 年间收集的 4498 例咨询系列中，对 2099 例表达突触素和/或嗜铬粒蛋白 A 的肿瘤进行了回顾和分析。共有 364 例（18%）被诊断为非 NEN，其余肿瘤为 NEN。具有 NE 特征的间叶/非上皮肿瘤 (MN-NE) 组包括 31/364 (8%) 例。这些大多为恶性肿瘤，呈上皮样形态。虽然除一种肿瘤外，所有肿瘤均表达突触素，且大部分为斑片状，但只有 10/29 (34%) 共表达嗜铬粒蛋白 A。总共 13/31 (42%) 的 MN-NE 显示 EWSR1 相关基因融合（6 例尤文肉瘤、5 例透明细胞肉瘤、1 例促结缔组织增生性小圆细胞肿瘤、1 例具有 FUS-CREM 基因融合的肿瘤），7 例 (23%) 为 SWI/SNF（SMARCB1 或 SMARCA4）缺陷型肿瘤。其余的 MN-NE 包括滑膜肉瘤、硬化性上皮样间质肿瘤、黑色素瘤、肺泡软组织肉瘤、孤立性纤维瘤和脊索瘤。过去 8 年总共有 27/31 MN-NE，其中 6 个位于胰腺。 11 例 MN-NE 最初被诊断为神经内分泌癌 (NEC)。具有上皮样特征的 MN-NE 作为 NEC 的模仿者发挥着越来越大的作用。它们大多属于涉及EWSR1基因的基因融合或SWI/SNF复合体缺陷的肿瘤。在该系列的 MN-NE 和从文献中提取的数据中，突触素表达大多是斑片状的，而嗜铬粒蛋白 A 表达很少。在线版本包含可在 10.1007/s00428-021-03156-9 获取的补充材料。
Mimickers of neuroendocrine neoplasms (NEN) include a number of important pitfall tumors. Here, we describe our experience with mesenchymal mimics of NENs to illustrate their spectrum and draw the attention particularly to a group of mesenchymal/non-epithelial neoplasms (MN) that combine epithelioid histology with neuroendocrine (NE-) features and peculiar genetic abnormalities. In a consultation series of 4498 cases collected between 2009 and 2021, 2099 neoplasms expressing synaptophysin and/or chromograninA were reviewed and analyzed. A total of 364 (18%) were diagnosed as non-NENs, while the remaining tumors were NEN. The group of mesenchymal/non-epithelial neoplasms with NE-features (MN-NE) included 31/364 (8%) cases. These mostly malignant neoplasms showed an epithelioid morphology. While all but one tumor expressed synaptophysin, mostly patchy, only 10/29 (34%) co-expressed chromograninA. A total of 13/31 (42%) of the MN-NE showed EWSR1-related gene fusions (6 Ewing sarcomas, 5 clear cell sarcomas, and 1 desmoplastic small round cell tumor, 1 neoplasm with FUS-CREM gene fusion) and 7 (23%) were SWI/SNF (SMARCB1 or SMARCA4)-deficient neoplasms. The remaining MN-NE included synovial sarcoma, sclerosing epithelioid mesenchymal neoplasm, melanoma, alveolar soft part sarcoma, solitary fibrous tumor, and chordoma. A total of 27/31 MN-NE were from the last 8 years, and 6 of them were located in the pancreas. Eleven MN-NE were initially diagnosed as neuroendocrine carcinomas (NECs). MN-NE with epithelioid features play an increasing role as mimickers of NECs. They mostly belong to tumors with gene fusions involving the EWSR1 gene, or with SWI/SNF complex deficiency. Synaptophysin expression is mostly patchy and chromograninA expression is infrequent in MN-NE of this series and data extracted from literature. The online version contains supplementary material available at 10.1007/s00428-021-03156-9.
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DOI：
10.1038/s41379-020-0646-5
发表时间：
2020-11
期刊：
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
影响因子：
--
作者：
Argani P;Harvey I;Nielsen GP;Takano A;Suurmeijer AJH;Voltaggio L;Zhang L;Sung YS;Stenzinger A;Mechtersheimer G;Dickson BC;Antonescu CR
通讯作者：
Antonescu CR
影响因子：
3.5
作者：
Agaimy, Abbas;Fuchs, Florian;Haller, Florian
通讯作者：
Haller, Florian
影响因子：
7.5
作者：
Agaimy, Abbas;Haller, Florian;Kloeppel, Guenter
通讯作者：
Kloeppel, Guenter
影响因子：
0.9
作者：
Liang, Yuanxin;Heller, Robert S.;Arkun, Knarik
通讯作者：
Arkun, Knarik
DOI：
10.1097/pas.0000000000000285
发表时间：
2014-09
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Bishop JA;Antonescu CR;Westra WH
通讯作者：
Westra WH