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Hereditary paraganglioma‐pheochromocytoma syndromes associated with SDHD and RET mutations
Author(s) -
Choi Joseph Do Woong,
Tucker Katherine M.,
Lee Tack Tsiew,
Chong Guan C.
Publication year - 2014
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.23598
Subject(s) - sdhd , pheochromocytoma , proband , paraganglioma , medicine , sdhb , carotid body , germline mutation , mutation , genetics , endocrinology , pathology , biology , gene , carotid arteries
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. © 2014 Wiley Periodicals, Inc. Head Neck , 36: E99–E102, 2014