A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Germline mutations in the Succinate Dehydrogenase Complex Subunit D gene (SDHD) are associated with paragangliomas (PGLs).
• SDHD-related PGLs are typically benign but can be multifocal.

Observation:

• A patient with a germline SDHD mutation developed multifocal PGLs over 40 years.
• Initial diagnosis at age 23 with a cervical PGL treated by surgery.
• Disease progression noted in 2013, despite prior radiotherapy in 2008.

Findings:

• A complex treatment regimen including surgery, radiotherapy, and Octreotide LAR was administered.
• This multimodal approach resulted in long-term clinical and biochemical remission.
• Tumor growth was effectively controlled.

Implications:

• Multicentric SDHD-related PGLs necessitate a multimodal treatment strategy.
• Combining surgery, radiotherapy, and medical therapy can achieve long-term disease control.
• This approach helps maintain a good quality of life for patients.