Pancreatic involvement by mesenchymal chondrosarcoma harboring the HEY1-NCOA2 gene fusion
Pancreatic involvement by mesenchymal chondrosarcoma harboring the HEY1-NCOA2 gene fusion
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DOI：
10.1016/j.humpath.2016.07.026
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发表时间：
2016-12-01
期刊：
影响因子：
3.3
通讯作者：
Kakar, Sanjay
中科院分区：
文献类型：
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作者：
Cohen, Jarish N.;Solomon, David A.;Kakar, Sanjay
间充质软骨肉瘤 (MC) 是一种侵袭性小、圆形、蓝色细胞肿瘤，具有软骨形成分化，通常出现在骨部位。大约三分之一的肿瘤发生在骨骼外部位，例如脑膜和躯体软组织。 MC 是边界清楚的分叶状肿块，有局灶性钙化。在组织学上，MC 具有 2 个不同的肿瘤细胞群的特征：原始的小、圆形、蓝色细胞片围绕发育良好的透明软骨岛，腔隙中具有成熟的软骨细胞。原发性或转移性 MC 累及胃肠道和胰腺的情况相对较少。我们在 1990 年至 2015 年的部门档案中发现了 8 名 MC 患者，其中两名患有胰腺受累。这些患者是年轻女性，她们的远端胰腺出现肿块。分子测试表明，这两种肿瘤都含有最近描述的 HEY1-NCOA2 基因融合体。这些病例说明MC可发生胰腺受累，HEY1-NCOA2融合的证实有助于明确诊断。 (C) 2016 Elsevier Inc. 保留所有权利。
Mesenchymal chondrosarcoma (MC) is an aggressive small, round, blue cell tumor with chondrogenic differentiation that typically arises in bony sites. Approximately, a third of these tumors develop in extraskeletal sites such as the meninges, and somatic soft tissue. The MCs are well-circumscribed, lobulated masses, with focal calcification. Histologically, 2 distinct populations of neoplastic cells characterize MC: sheets of primitive small, round, blue cells surrounding islands of well-developed hyaline cartilage with mature chondrocytes in lacunae. Involvement of the gastrointestinal tract and pancreas by primary or metastatic MC is a relatively rare occurrence. We identified 8 patients with MC in our departmental archives from 1990 to 2015, two of which had pancreatic involvement. The patients were young women who developed masses in the distal pancreas. Molecular testing demonstrated that both tumors harbored the recently described HEY1-NCOA2 gene fusion. These cases illustrate that pancreatic involvement can occur in MC, and the demonstration of HEY1-NCOA2 fusion can be helpful to confirm the diagnosis. (C) 2016 Elsevier Inc. All rights reserved.