Wei Christina H, Wang Edward, Sadimin Evita, Rodriguez-Rodriguez Lorna, Agulnik Mark, Yoon Janet, LoBello Janine, Szelinger Szabolcs, Anderson Clarke
Department of Pathology, City of Hope Medical Center, Duarte, CA, USA.
Department of Medical Oncology & Therapeutics Research, City of Hope Medical Center, Duarte, CA, USA.
Gynecol Oncol Rep. 2023 Oct 15;50:101294. doi: 10.1016/j.gore.2023.101294. eCollection 2023 Dec.
•/INI1-deficient gynecologic tumors are rare and clinically aggressive. A subset shows primitive yolk sac tumor features.•Due to technical limitation of next generation sequencing (NGS) and interlaboratory variability in sequencing methodologies and analytical pipelines, deficiency caused by somatic copy number variations (SCNV) may be underreported by NGS.•To improve identification of /INI1-deficient neoplasm, we propose the following strategy: First, careful pathology slide review and detection of rhabdoid cells should raise the possibility of /INI1 deficiency. Second, INI1 IHC is a useful complementary test to exclude clinical suspicion of deficiency in the context of negative molecular reporting. Third, knowledge of potential underreporting of mutation would avoid underdiagnosis.
•INI1 缺陷型妇科肿瘤罕见且具有临床侵袭性。一部分显示出原始卵黄囊瘤特征。
•由于下一代测序（NGS）的技术限制以及测序方法和分析流程在实验室间的差异，体细胞拷贝数变异（SCNV）导致的缺陷可能会被 NGS 漏报。
•为了提高对 INI1 缺陷型肿瘤的识别，我们提出以下策略：首先，仔细的病理切片检查和横纹肌样细胞的检测应提高 INI1 缺陷的可能性。其次，在分子报告为阴性的情况下，INI1 免疫组化是排除临床对缺陷怀疑的有用补充检测。第三，了解 INI1 突变可能漏报的情况可避免漏诊。
