Department of Pathology, University of California, San Francisco, San Francisco, CA, USA.
Clinical Cancer Genomics Laboratory, University of California, San Francisco, San Francisco, CA, USA.
Mod Pathol. 2018 Apr;31(4):660-673. doi: 10.1038/modpathol.2017.153. Epub 2017 Nov 17.
Adenomatoid tumors are the most common neoplasm of the epididymis, and histologically similar adenomatoid tumors also commonly arise in the uterus and fallopian tube. To investigate the molecular pathogenesis of these tumors, we performed genomic profiling on a cohort of 31 adenomatoid tumors of the male and female genital tracts. We identified that all tumors harbored somatic missense mutations in the TRAF7 gene, which encodes an E3 ubiquitin ligase belonging to the family of tumor necrosis factor receptor-associated factors (TRAFs). These mutations all clustered into one of five recurrent hotspots within the WD40 repeat domains at the C-terminus of the protein. Functional studies in vitro revealed that expression of mutant but not wild-type TRAF7 led to increased phosphorylation of nuclear factor-kappa B (NF-kB) and increased expression of L1 cell adhesion molecule (L1CAM), a marker of NF-kB pathway activation. Immunohistochemistry demonstrated robust L1CAM expression in adenomatoid tumors that was absent in normal mesothelial cells, malignant peritoneal mesotheliomas and multilocular peritoneal inclusion cysts. Together, these studies demonstrate that adenomatoid tumors of the male and female genital tract are genetically defined by TRAF7 mutation that drives aberrant NF-kB pathway activation.
腺瘤样肿瘤是附睾最常见的肿瘤,组织学上类似的腺瘤样肿瘤也常见于子宫和输卵管。为了研究这些肿瘤的分子发病机制,我们对一组 31 例男性和女性生殖道的腺瘤样肿瘤进行了基因组分析。我们发现所有肿瘤都携带 TRAF7 基因的体细胞错义突变,该基因编码一种属于肿瘤坏死因子受体相关因子(TRAFs)家族的 E3 泛素连接酶。这些突变都聚集在蛋白 C 末端 WD40 重复结构域的五个高频突变热点之一。体外功能研究表明,突变型 TRAF7 的表达而非野生型 TRAF7 的表达导致核因子-κB(NF-κB)的磷酸化增加和 L1 细胞黏附分子(L1CAM)的表达增加,L1CAM 是 NF-κB 通路激活的标志物。免疫组化显示,在男性和女性生殖道的腺瘤样肿瘤中存在强烈的 L1CAM 表达,而在正常间皮细胞、恶性腹膜间皮瘤和多房性腹膜包涵囊肿中则不存在。总之,这些研究表明,男性和女性生殖道的腺瘤样肿瘤是由 TRAF7 突变引起的,这种突变导致异常的 NF-κB 通路激活。