Human Genome Variation ( IF 1.0 ) Pub Date : 2022-07-22 , DOI: 10.1038/s41439-022-00202-z Shinichiro Higashi 1 , Takeshi Sasaki 1 , Katsunori Uchida 2 , Takumi Kageyama 1 , Makoto Ikejiri 3 , Ryuki Matsumoto 1 , Manabu Kato 1 , Satoru Masui 1 , Yuko Yoshio 1 , Kouhei Nishikawa 1 , Yoshinaga Okugawa 4 , Masatoshi Watanabe 2 , Takahiro Inoue 1
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare renal cancer. A 75-year-old Japanese female presented with gross hematuria. Computed tomography revealed two tumors in the left kidney, which were resected. Immunohistochemistry indicated negative staining for the B subunit of SDH (SDHB) in the resected specimen, leading to a final diagnosis of SDHB-deficient RCC. Genetic testing for SDHB showed a RCC germline variant in exon 6 (NM_003000.3:c.642 G > C) that was previously reported but associated with a novel phenotype (i.e., RCC). Twenty-six years prior, her daughter, who was 25 years old at the time, had undergone radical nephrectomy for a pathologic diagnosis of renal oncocytoma of the right kidney; SDHB immunostaining of her daughter’s tumor was also negative retrospectively. We confirmed that her daughter carried the germline variant in SDHB exon 6, similar to the patient. The patient had no evidence of disease progression at 15 months after surgery.
中文翻译:
日本患者的琥珀酸脱氢酶 B 缺陷型肾细胞癌伴种系变异:一例报告
琥珀酸脱氢酶 (SDH) 缺陷型肾细胞癌 (RCC) 是一种罕见的肾癌。一名 75 岁的日本女性因肉眼血尿就诊。计算机断层扫描显示左肾有两个肿瘤,已将其切除。免疫组织化学表明切除标本中 SDH B 亚基 (SDHB) 的染色呈阴性,最终诊断为 SDHB 缺陷型 RCC。SDHB基因检测显示外显子 6 (NM_003000.3:c.642 G > C) 中的 RCC 种系变异,该变异先前已被报道但与新表型(即 RCC)相关。26 年前,她当时 25 岁的女儿接受了根治性肾切除术,病理诊断为右肾肾嗜酸细胞瘤;回顾性分析,她女儿肿瘤的 SDHB 免疫染色也是阴性的。我们确认她的女儿在SDHB外显子 6 中携带种系变异,与患者相似。患者在手术后 15 个月时没有疾病进展的证据。