Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports.

Abstract

BACKGROUND:

Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B.

CASE PRESENTATION:

A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father's paraganglioma tissues. In silico analysis predicted the mutation as "disease causing." She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery.

CONCLUSIONS:

We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

• Authors: Rei Hirose, Yuya Tsurutani, Chiho Sugisawa, Kosuke Inoue, Sachiko Suematsu, Maki Nagata, Naoki Hasegawa, Yukio Kakuta, Masato Yonamine, Kazuhiro Takekoshi, Noriko Kimura, Jun Saito, Tetsuo Nishikawa
• Journal: Journal of medical case reports (J Med Case Rep) Vol. 15 Issue 1 Pg. 282 (May 22 2021) ISSN: 1752-1947 [Electronic] England
• PMID: 34020699 (Publication Type: Case Reports, Journal Article)

Chemical References

• Succinic Acid
• Succinate Dehydrogenase

Topics

• Adrenal Gland Neoplasms (genetics, surgery)
• Adult
• Female
• Humans
• Japan
• Mutation
• Neoplasm Recurrence, Local
• Paraganglioma (genetics, surgery)
• Pheochromocytoma (genetics)
• Succinate Dehydrogenase (genetics)
• Succinic Acid
• Young Adult