Open AccessFirst Report of Bilateral Pheochromocytoma in the Clinical Spectrum ofHIF2A-Related Polycythemia-Paraganglioma Syndrome
Author(s) -
David Taïeb,
Chunzhang Yang,
B. Delenne,
Zhengping Zhuang,
Anne Barlier,
F. Sébag,
Karel Pacák
Publication year - 2013
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-1217
Subject(s) - sdhd , pheochromocytoma , paraganglioma , germline mutation , sdhb , medicine , missense mutation , mutation , endocrinology , phlebotomy , cancer research , genetics , pathology , biology , gene
Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma (PHEO) or paraganglioma (PGL). Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported.
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