Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Department of Pediatrics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan.
Cancer Rep (Hoboken). 2022 Feb;5(2):e1458. doi: 10.1002/cnr2.1458. Epub 2021 Dec 29.
Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor.
A 2-year-old boy was diagnosed with CCSK, which relapsed four times until he yielded to the disease at the age of 7 years. To characterize the longitudinal genetic alterations occurring in the present case, we performed targeted-capture sequencing by pediatric solid tumors panel (381 genes) for longitudinally sampled tumors, including autopsy samples of metastasis. Internal tandem duplication of BCOR (BCOR-ITD) was the only truncal mutation, confirming the previously reported role of BCOR-ITD in CCSK.
Acquisition of additional mutations along tumor relapses and detection of metastasis-specific mutations were reminiscent of the tumor progression and therapeutic resistance of this case, leading to clonal selection and a dismal fate.
肾透明细胞肉瘤（CCSK）是第二大常见的小儿肾肿瘤。
一名 2 岁男孩被诊断为 CCSK，在 7 岁时因该病去世前，该肿瘤复发了 4 次。为了描述本病例中发生的纵向遗传改变，我们对包括转移尸检样本在内的纵向采样肿瘤进行了小儿实体瘤 panel（381 个基因）的靶向捕获测序。BCOR 内部串联重复（BCOR-ITD）是唯一的主干突变，证实了之前报道的 BCOR-ITD 在 CCSK 中的作用。
在肿瘤复发时获得额外的突变，并检测到转移特异性突变，这使人联想到该病例的肿瘤进展和治疗耐药性，导致克隆选择和悲惨的结局。
