Saitoh Kohei, Yonemoto Takako, Usui Takeshi, Takekoshi Kazuhiro, Suzuki Makoto, Nakashima Yoshiharu, Yoshimura Koji, Kosugi Rieko, Ogawa Tatsuo, Inoue Tatsuhide
Departments of Diabetes and Endocrinology.
Medical Genetics, Shizuoka General Hospital, ShizuokaJapan.
Endocrinol Diabetes Metab Case Rep. 2017 Apr 6;2017. doi: 10.1530/EDM-17-0014. eCollection 2017.
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, is one of the rare responsible genes for PCC/PGL. Here we report the case of a patient with familial PCC having a novel variant (c.119C > T, p.S40F). prediction analysis to evaluate the functional significance of this variant suggested that it is a disease-causing variant. A PCC on the left side was considered to be the dominant lesion, and unilateral adrenalectomy was performed. The histopathologic findings were consistent with benign PCC. A loss of heterogeneity of the variant was detected in the surgically removed tumour.
c.119C > T (p.S40F) is a novel variant that can cause pheochromocytoma.The tumour showed loss of heterozygosity of this variant.The clinical phenotype of this mutation is putative bilateral pheochromocytoma in the 4th decade.Unilateral adrenalectomy may be performed as the initial surgery in such cases.
嗜铬细胞瘤（PCC）和副神经节瘤（PGL）是具有异质性遗传背景的罕见肿瘤。高达40%的明显散发型PCC/PGL病例携带赋予PCC/PGL遗传易感性的12个基因种系突变中的1个。尽管确切机制尚不清楚，但 是PCC/PGL的罕见致病基因之一。在此，我们报告一例患有家族性PCC的患者，其携带一种新的 变体（c.119C>T，p.S40F）。评估该变体功能意义的 预测分析表明它是一种致病变体。左侧的PCC被认为是主要病变，遂进行了单侧肾上腺切除术。组织病理学结果与良性PCC一致。在手术切除的肿瘤中检测到该 变体的杂合性缺失。
c.119C>T（p.S40F）是一种可导致嗜铬细胞瘤的新型 变体。该肿瘤显示出此 变体的杂合性缺失。此突变的临床表型推测为在第四个十年出现双侧嗜铬细胞瘤。在此类病例中，单侧肾上腺切除术可作为初始手术方式。
