A case of SDH-deficient gastric GIST with pathogenic variant identified in the SDHB gene

• Published in: Journal of Hereditary Tumors Vol. 23; no. 3; pp. 94 - 97
• Main Authors: Kuwata, Takeshi, Hirata, Makoto, Kimura, Kaori, Yoshida, Teruhiko, Naito, Yoichi, Hiraoka, Yumie
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Hereditary Tumors 15.12.2023; 一般社団法人 日本遺伝性腫瘍学会
• Subjects: genetic counseling; hereditary paraganglioma-pheochromocytoma syndrome; SDH-deficient GIST; SDH欠失型GIST; surveillance; サーベイランス; 遺伝カウンセリング; 遺伝性パラガングリオーマ・褐色細胞腫症候群
• ISSN: 2435-6808
• DOI: 10.18976/jsht.23.3_94

Gastrointestinal stromal tumor (GIST) is a rare cancer that can be caused by a germline pathogenic variant in the SDHB gene, which is also causative of hereditary paraganglioma-pheochromocytoma syndrome (HPPS). We report a case of a man in his 30s who was diagnosed with gastric GIST. Immunostaining of the surgical specimen revealed SDHB protein loss, while genetic analysis identified a pathogenic SDHB variant. He started paraganglioma-pheochromocytoma surveillance in addition to standard care for GIST, and we provided follow-up genetic counseling for the psychological burden of having a hereditary disease. In cases of early-onset GIST with SDH-deficient findings, it is useful to consider genetic testing for the possibility of HPPS. Furthermore, evidence is needed regarding the usefulness of surveillance and ongoing psychosocial support for such cases.