Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report

• Published in: Human genome variation Vol. 9; no. 1; p. 25
• Main Authors: Higashi, Shinichiro, Sasaki, Takeshi, Uchida, Katsunori, Kageyama, Takumi, Ikejiri, Makoto, Matsumoto, Ryuki, Kato, Manabu, Masui, Satoru, Yoshio, Yuko, Nishikawa, Kouhei, Okugawa, Yoshinaga, Watanabe, Masatoshi, Inoue, Takahiro
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 22.07.2022; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/2489/68/2486; 631/67/69; Biomedical and Life Sciences; Biomedicine; Case reports; Cloning; Computed tomography; Data Report; Dehydrogenases; Diagnosis; Gene Expression; Gene Function; Gene Therapy; Genetic counseling; Genetic screening; Genetic testing; Genomes; Hematuria; Human Genetics; Immunohistochemistry; Kidney cancer; Kidneys; Molecular Medicine; Nephrectomy; Pathology; Patients; Phenotypes; Renal cell carcinoma; Succinate dehydrogenase; Surgery; Tomography; Tumors
• ISSN: 2054-345X; 2054-345X
• DOI: 10.1038/s41439-022-00202-z

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.