[Hereditary paragangliomas and pheochromocytomas]

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Paragangliomas are rare tumors originating from paraganglionic sites in the head, neck, adrenal medulla, and thoracoabdominal/pelvic regions.
• Morbidity and mortality are associated with local spread, hypervascularity, cardiovascular complications (in secreting tumors), and risk of recurrence/metastasis.
• While surgical resection is curative, hereditary forms often present as multifocal, recurrent, malignant, and earlier onset.

Purpose of the Study:

• To highlight the critical role of succinate dehydrogenase (SDH) genes in paraganglioma development.
• To emphasize the importance of genetic screening for SDH mutations in managing patients and their families.
• To underscore the implication of SDH genes in both familial and sporadic paraganglioma cases.

Main Methods:

• Review of current literature on paraganglioma pathogenesis and genetics.
• Analysis of the role of succinate dehydrogenase (SDH) genes (SDHD, SDHB, SDHC) in familial and sporadic paraganglioma.
• Discussion of clinical management strategies informed by genetic findings.

Main Results:

• Succinate dehydrogenase (SDH) genes, encoding subunits of mitochondrial complex II, are implicated in hereditary paraganglioma syndromes.
• Recent findings confirm the involvement of SDH genes in sporadic forms of paraganglioma.
• Germline mutations in SDH genes are significant in the pathogenesis of both paraganglioma and pheochromocytoma.

Conclusions:

• Genetic analysis for SDH gene mutations is essential for comprehensive patient management.
• Understanding the genetic basis of paraganglioma aids in identifying at-risk families and tailoring treatment.
• SDH gene mutations represent a unifying factor in the etiology of diverse paraganglioma presentations.