Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations
Joseph Do Woong Choi1, Katherine M Tucker, Tack Tsiew Lee
1Academic Unit of Surgery, Australian National University Medical School, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Background:
Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells.
Methods And Results:
The proband, a 59-year-old white man and his 42-year-old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36-year-old daughter had excision of recurrent malignant carotid body PGL and vertebral metastasis. His 33-year-old youngest son presented for excision of a unilateral carotid body PGL. All 4 members had succinate dehydrogenase subunit D (SDHD) mutations, whereas the proband and youngest son also had concurrent rearranged during transfection (RET) mutation.
Conclusion:
This is the first report of PGL/PCC with SDHD and RET mutations. The role of the RET gene as a modifier remains speculative. Additionally, the family pedigree suggests maternal inheritance of disease from the probands' paternal grandmother. Clinicians should refer PGL/PCC families for mutation analysis as well as being alert to changes in the classification of mutations.
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