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胰腺基底样癌——一种罕见实体的临床病理表现及肿瘤发生情况概述

Basaloid carcinoma of the pancreas--clinicopathological presentation and oncogenetic snapshot of a rare entity.

作者信息

Szasz A Marcell, Szirtes Ildiko, Tihanyi Balazs, Barkaszi Bernadett, Baranyai Zsolt, Tihanyi Tibor, Harsanyi Laszlo, Timar Jozsef, Kulka Janina

机构信息

2nd Department of Pathology, Semmelweis University, Budapest, Hungary.

出版信息

Virchows Arch. 2015 Feb;466(2):237-41. doi: 10.1007/s00428-014-1662-y. Epub 2014 Nov 29.

Abstract

We report a case of basaloid pancreatic carcinoma with clinical, pathological, and genomic data. The 73-year-old male patient had jaundice, acholic stool, diarrhea, weight loss, and a large, painless gall bladder. His GGT was highly elevated. The pancreatic head contained a tumor, which was resected by partial pancreatoduodenectomy with pancreato-gastric anastomosis, cholecystectomy, and lymphadenectomy. On gross examination, a 3.8-cm white firm nodule was found, which microscopically was composed of basaloid cell nests with a less than usual desmoplastic stromal background and focally PANIN. Immunohistochemical profile displayed strong CK5/6, CK19, p63, EGFR, vimentin, and evident CK14 expression and absence of expression of CK7, chromogranin, synaptophysin, and BRCA1. A high Ki-67 index and p53 expression were noted. Sequencing of the most frequent 46 oncogenes with ionTorrent (AmpliSeq PCR) method identified PIK3CA, KRAS, and TP53 genes as drivers and variants of the FGFR3, PDGFRA, KIT, KDR, EGFR, RET, and ATM genes. The tumor we report displays histopathological appearances similar to the previously described case and a genomic landscape fitting to the general population of pancreatic carcinomas. We hypothesize that this tumor may belong to the group of DNA damage repair-deficient pancreatic carcinoma subgroup.

摘要

我们报告了一例具有临床、病理和基因组数据的基底样胰腺癌病例。该73岁男性患者有黄疸、无胆汁大便、腹泻、体重减轻以及一个大的无痛胆囊。其谷氨酰转肽酶(GGT)显著升高。胰头有一个肿瘤,通过胰十二指肠部分切除术、胰胃吻合术、胆囊切除术和淋巴结清扫术将其切除。大体检查发现一个3.8厘米的白色坚实结节,显微镜下由基底样细胞巢组成,伴有比通常少的促纤维增生性基质背景,且局部有胰腺上皮内瘤变(PANIN)。免疫组化结果显示CK5/6、CK19、p63、表皮生长因子受体(EGFR)、波形蛋白呈强阳性表达,CK14表达明显,而CK7、嗜铬粒蛋白、突触素和乳腺癌1号基因(BRCA1)无表达。观察到高Ki-67指数和p53表达。采用IonTorrent(扩增子测序PCR)方法对最常见的46个癌基因进行测序,确定磷脂酰肌醇-3激酶催化亚基α(PIK3CA)、 Kirsten大鼠肉瘤病毒癌基因(KRAS)和肿瘤蛋白p53(TP53)基因为驱动基因,同时发现成纤维细胞生长因子受体3(FGFR3)、血小板衍生生长因子受体α(PDGFRA)、干细胞生长因子受体(KIT)、血管内皮生长因子受体2(KDR)、表皮生长因子受体(EGFR)、转染重排(RET)和共济失调毛细血管扩张突变基因(ATM)存在变异。我们报告的该肿瘤显示出与先前描述病例相似的组织病理学表现以及与胰腺癌总体人群相符的基因组特征。我们推测该肿瘤可能属于DNA损伤修复缺陷型胰腺癌亚组。

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