[Atypical polypoid adenomyoma evolves into endometrial endometrioid carcinoma with retro-differentiation of yolk sac tumor: report of a case]

Zhonghua Bing Li Xue Za Zhi. 2024 Dec 8;53(12):1264-1267. doi: 10.3760/cma.j.cn112151-20240301-00143.
[Article in Chinese]

Abstract

原发性子宫卵黄囊瘤是一种极为罕见的恶性肿瘤，其与非典型息肉样腺肌瘤（atypical polypoid adenomyoma，APA）和子宫内膜样癌（endometrial endometrioid carcinoma，EEC）共存更为罕见。本文报道了1例APA恶变为EEC，局灶逆分化为卵黄囊瘤的病例，全外显子测序显示在上皮肿瘤区域（APA和EEC）及卵黄囊瘤区域检测到共同的PTEN、AMPD1、SLC22A5和MBL2的基因突变，且在卵黄囊瘤区域发现额外的CTNNB1基因突变。同时，我们进行相关文献的全面回顾，以期更深入了解体细胞起源的子宫卵黄囊瘤临床病理及分子遗传学特征。.

Publication types

  • Case Reports

MeSH terms

  • Adenomyoma* / genetics
  • Adenomyoma* / pathology
  • Carcinoma, Endometrioid* / genetics
  • Carcinoma, Endometrioid* / pathology
  • Endodermal Sinus Tumor* / genetics
  • Endodermal Sinus Tumor* / metabolism
  • Endodermal Sinus Tumor* / pathology
  • Endometrial Neoplasms* / genetics
  • Endometrial Neoplasms* / pathology
  • Female
  • Humans
  • Mutation
  • PTEN Phosphohydrolase / genetics
  • PTEN Phosphohydrolase / metabolism
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / pathology
  • Uterine Neoplasms / surgery
  • beta Catenin* / genetics
  • beta Catenin* / metabolism

Substances

  • beta Catenin
  • CTNNB1 protein, human
  • PTEN Phosphohydrolase