Patel Snehal B, McCormack Colin, Hodge Jennelle C
Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Molecular Diagnostics Section, Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
J Clin Pathol. 2020 Dec;73(12):830-835. doi: 10.1136/jclinpath-2020-206432. Epub 2020 May 8.
Targeted next-generation sequencing using the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 identified two significant point mutations in endometrial stromal sarcomas (ESS). Case 1 is a uterine mass from a quadragenarian woman with a karyotype lacking any known ESS rearrangements but demonstrated to have a -activating mutation (c.133T>C, p.[Ser45Pro]). Analysis of a uterine mass from case 2, a sexagenarian woman, revealed biallelic -inactivating mutations (c.172C>T, p.[Arg58Ter] and a deletion). Break-apart studies to identify , and rearrangements were negative in both tumours. We propose a model in which these point mutations may affect cell proliferation, converging at Wnt signalling and G1-S checkpoint control, that independently or in concert with a rare gene fusion result in ESS tumour development or progression.
使用50基因Ion AmpliSeq癌症热点Panel v2进行的靶向二代测序在子宫内膜间质肉瘤（ESS）中鉴定出两个显著的点突变。病例1是一名四十多岁女性的子宫肿块，其核型缺乏任何已知的ESS重排，但显示有一个激活突变（c.133T>C，p.[Ser45Pro]）。对病例2（一名六十多岁女性）的子宫肿块进行分析，发现双等位基因失活突变（c.172C>T，p.[Arg58Ter]和一个缺失）。用于鉴定、和重排的断裂分析在两个肿瘤中均为阴性。我们提出了一个模型，其中这些点突变可能影响细胞增殖，在Wnt信号传导和G1-S检查点控制上汇聚，独立地或与罕见的基因融合共同导致ESS肿瘤的发生或进展。
