Succinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes

Michael S Lui; Uriel Clemente-Gutierrez; Catherine M Skefos; Nancy D Perrier

doi:10.1016/j.soc.2022.10.006

Succinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes

Surg Oncol Clin N Am. 2023 Apr;32(2):289-301. doi: 10.1016/j.soc.2022.10.006.

Authors

Michael S Lui¹, Uriel Clemente-Gutierrez², Catherine M Skefos³, Nancy D Perrier⁴

Affiliations

¹ Department of Surgical Oncology, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1484, Houston, TX 77030, USA. Electronic address: Michael.Lui@nyulangone.org.
² Department of Surgical Oncology, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1484, Houston, TX 77030, USA. Electronic address: Uclementeg@gmail.com.
³ Clinical Cancer Genetics Program, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Electronic address: CBSkefos@mdanderson.org.
⁴ Department of Surgical Oncology, Division of Surgical Endocrinology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1484, Houston, TX 77030, USA. Electronic address: nperrier@mdanderson.org.

PMID: 36925186
DOI: 10.1016/j.soc.2022.10.006

Abstract

It is recognized that a large portion of pheochromocytoma and paraganglioma cases will have an underlying germline mutation, supporting the recommendation for universal genetic testing in all patients with PPGLs. A mutation in succinate dehydrogenase subunit B is associated with increased rates of developing synchronous and/or metachronous metastatic disease. Patients identified with this mutation require meticulous preoperative evaluation, a personalized surgical plan to minimize the risk of recurrence and tumor spread, and lifelong surveillance.

Keywords: Adrenalectomy; Genetic testing; Hereditary pheochromocytoma/paraganglioma; Metastatic pheochromocytoma/paraganglioma; Preoperative blockade; Succinate dehydrogenase subunit B (SDHB).

Publication types

Review

MeSH terms

Adrenal Gland Neoplasms* / genetics
Humans
Mutation
Paraganglioma* / genetics
Pheochromocytoma* / genetics
Pheochromocytoma* / pathology
Succinate Dehydrogenase* / genetics
Syndrome

Substances

Succinate Dehydrogenase

Supplementary concepts

Islet cell tumor syndrome