Several genotypes, one phenotype: PIK3CA/AKT1 mutation-negative hidradenoma papilliferum show genetic lesions in other components of the signalling network
作者: Nicole PfarrMichael AllgäuerKatja SteigerWilko WeichertPeter SchirmacherAurelia NoskeAlbrecht Stenzinger
作者单位: 1Institute of Pathology, Technical University Munich, Munich, Germany
2Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
3German Cancer Consortium (DKTK), Heidelberg, Germany
刊名: Pathology, 2019
来源数据库: Elsevier Journal
DOI: 10.1016/j.pathol.2019.01.010
关键词: Hidradenoma papilliferumPapillary hidradenomaMutationPIK3CASequencingVulvaAnogenital
英文摘要: Summary(#br)About 60–70% of hidradenoma papilliferum (HP), a benign tumour of the anogenital region, were recently described to harbour mutations in major driver genes of the PI3K/AKT/MAPK-signalling pathways. However, the underlying genetic defects of the non-mutant cases are still unknown. Using a 409 gene panel, we employed targeted next generation sequencing to investigate the mutational landscape in a cohort of seven PI3K/AKT -negative cases and five cases with known hotspot mutations in either PIK3CA or AKT1 . In total, we identified 29 mutations in 22 of 409 genes. The four cases with PIK3CA hotspot mutations carried no or only few additional mutations. The AKT1 hotspot mutated case harboured additional mutations in four genes ( SYNE1 , ADAMTS20 , EP400 and CASC5 ). At least two of...
全文获取路径: Elsevier  (合作)
影响因子:2.657 (2012)

  • hidradenoma 汗腺腺瘤
  • components 零部件
  • mutation 变种
  • signalling 发信号
  • genetic 遗传的
  • network 网络
  • negative 负象
  • other 别的