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Targeted-gene sequencing of an undifferentiated gallbladder carcinoma: a case report

机译:未分化的胆囊癌的靶向基因测序:案例报告

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BACKGROUND:Undifferentiated carcinomas of the gallbladder are extremely rare. Most undifferentiated carcinomas are accompanied by adjacent foci of other conventional carcinomas, and a transition zone is shared between them. However, genetic alterations of undifferentiated gallbladder carcinoma and the similarities or differences between the undifferentiated carcinoma and the foci conventional carcinoma are unknown.CASE PRESENTATION:Herein, we report a case of undifferentiated gallbladder carcinoma with osteoclast-like giant cells with invasion into the liver, duodenum, and stomach in a 56-year-old man. The tumor was microscopically formed from the tubular adenocarcinoma (?5% of the entire tumor), the undifferentiated carcinoma, and a transition zone between them. Four somatic mutations (TP53, TERT, ARID2, and CDH1), three amplifications (CCND1, FGF19, and MET), and a tumor mutation burden (TMB) of 3.45 muts/Mb were detected in the undifferentiated component using targeted gene sequencing, whereas 102 somatic mutations (including TP53, TERT, ARID2, and CDH1), one amplification (CCND1), and a higher TMB of 87.07 muts/Mb were detected in the tubular component. This patient died of tumor recurrence 2?months after the surgery.CONCLUSIONS:The undifferentiated gallbladder carcinoma had its unique molecular alterations. The similarities in the genetic alterations of the undifferentiated carcinoma and adenocarcinoma provide evidence of a common origin at the genetic level. The occurrence of an undifferentiated carcinoma may be due to heterogeneity-associated branched evolution from the tubular adenocarcinoma.
机译:背景:胆囊的未分化癌非常罕见。大多数未分化的癌症伴随着其他常规癌的相邻焦点,并且在它们之间共享过渡区。然而,未分化的胆囊癌的遗传改变以及未分化的癌和焦点常规癌之间的相似性或差异是未知的.case介绍:本文,我们报告了未分化的胆囊癌的情况,其中具有侵袭肝脏的疏口细胞样巨细胞,十二指肠,以及一个56岁的男人的胃。肿瘤由管状腺癌(肿瘤的<β5%),未分化的癌和它们之间的过渡区形成显微镜。使用靶向基因测序在未分化的组分中检测到四个体细胞突变(TP53,TERT,ARID2和CDH1),三个扩增(CCND1,FGF19和MET),以及3.45μm/ MB的肿瘤突变负荷(TMB),而在管状组分中检测到102个体细胞突变(包括TP53,TERT,ARID2和CDH1),一个扩增(CCND1)和较高的87.07μm/ MB的TMB。该患者死于肿瘤复发2?手术后几个月。结论:未分化的胆囊癌有其独特的分子改变。未分化的癌和腺癌的遗传改变中的相似性提供了遗传水平常见起源的证据。未分化的癌的发生可能是由于管状腺癌的异质性相关的支化进化。

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