We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.
- Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.
- Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.
- Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.