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伴CRTC1-MAML2融合转录本的腭扁桃体梭形细胞黏液表皮样癌:17岁男孩罕见病例报告及文献复习

Spindle Cell Mucoepidermoid Carcinoma of the Palatine Tonsil With CRTC1-MAML2 Fusion Transcript: Report of a Rare Case in a 17-Year-Old Boy and a Review of the Literature.

作者信息

Goh Giap Hean, Lim Chwee Ming, Vanacek Tomas, Michal Michal, Petersson Fredrik

机构信息

1 National University Health System, Singapore.

2 Bioptical Laboratory, Pilsen, Czech Republic.

出版信息

Int J Surg Pathol. 2017 Dec;25(8):705-710. doi: 10.1177/1066896917714890. Epub 2017 Jun 21.

Abstract

Mucoepidermoid carcinoma (MEC) with a predominant spindle cell composition occurring in the palatine tonsil is exceedingly rare. We present a case of a 17-year-old boy with an uncommon spindle cell variant of MEC arising in the palatine tonsil. Histologically, the tumor showed a solid, noncystic architecture and was composed of a predominant population of bland spindle to fusiform cells arranged in organoid nests with interspersed goblet cells and focal areas of ductular structures. Reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization (FISH) revealed the presence of a t(11;19) CRTC1-MAML2 gene fusion in this rare variant of MEC. This is the first case report of a spindle cell MEC of the palatine tonsil, with molecular genetic confirmation. It illustrates the importance of awareness and recognition of this uncommon histological variant of MEC, which will help establish appropriate treatment and prognostication.

摘要

腭扁桃体发生的以梭形细胞成分为主的黏液表皮样癌极为罕见。我们报告一例17岁男孩,其腭扁桃体出现了一种罕见的黏液表皮样癌梭形细胞变异型。组织学上,肿瘤呈实性、非囊性结构,主要由排列成器官样巢状的温和梭形至梭形细胞组成,其间散在杯状细胞和小灶性导管结构区域。逆转录聚合酶链反应和荧光原位杂交(FISH)显示,在这种罕见的黏液表皮样癌变异型中存在t(11;19) CRTC1-MAML2基因融合。这是首例经分子遗传学证实的腭扁桃体梭形细胞黏液表皮样癌病例报告。它说明了认识和识别这种罕见的黏液表皮样癌组织学变异型的重要性,这将有助于制定适当的治疗方案和进行预后评估。

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