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Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma
Author(s) -
Efstathiadou Zoe A.,
Sapranidis Michail,
Anagnostis Panagiotis,
Kita Marina D.
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.23420
Subject(s) - sdhb , pten , sdhd , cowden syndrome , medicine , paraganglioma , hras , germline mutation , pathology , cancer research , biology , mutation , genetics , gene , pi3k/akt/mtor pathway , kras , cancer , apoptosis , colorectal cancer
Background Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together. Methods The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma. Results Germline mutation analysis of phosphatase and tensin homolog ( PTEN ), succinate dehydrogenase subunit B ( SDHB ), succinate dehydrogenase subunit C ( SDHC ), and succinate dehydrogenase subunit D ( SDHD ) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations. Conclusion The coexistence of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. © 2013 Wiley Periodicals, Inc. Head Neck 36 : E12–E16, 2014