Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations
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Choi, Do Woong Joseph; Tucker, Katherine M; Lee, Tack-Tsiew; Chong, Guan
Description
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...[Show more]
dc.contributor.author | Choi, Do Woong Joseph | |
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dc.contributor.author | Tucker, Katherine M | |
dc.contributor.author | Lee, Tack-Tsiew | |
dc.contributor.author | Chong, Guan | |
dc.date.accessioned | 2015-12-10T22:25:34Z | |
dc.identifier.issn | 1043-3074 | |
dc.identifier.uri | http://hdl.handle.net/1885/53545 | |
dc.description.abstract | 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. | |
dc.publisher | John Wiley & Sons Inc. | |
dc.source | Head and Neck | |
dc.title | Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations | |
dc.type | Journal article | |
local.description.notes | Imported from ARIES | |
local.identifier.citationvolume | 36 | |
dc.date.issued | 2014 | |
local.identifier.absfor | 110323 - Surgery | |
local.identifier.ariespublication | u4971216xPUB276 | |
local.type.status | Published Version | |
local.contributor.affiliation | Choi, Do Woong Joseph, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Tucker, Katherine M, Prince of Wales Hospital | |
local.contributor.affiliation | Lee, Tack-Tsiew, College of Medicine, Biology and Environment, ANU | |
local.contributor.affiliation | Chong, Guan, College of Medicine, Biology and Environment, ANU | |
local.description.embargo | 2037-12-31 | |
local.bibliographicCitation.issue | 10 | |
local.bibliographicCitation.startpage | E99 | |
local.bibliographicCitation.lastpage | E102 | |
local.identifier.doi | 10.1002/hed.23598 | |
dc.date.updated | 2015-12-09T09:25:37Z | |
local.identifier.scopusID | 2-s2.0-84908071681 | |
local.identifier.thomsonID | 000342157000002 | |
Collections | ANU Research Publications |
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