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Novel tandem germline RET proto‐oncogene mutations in a patient with multiple endocrine neoplasia type 2B: Report of a case and a literature review of tandem RET mutations with in silico analysis
Author(s) -
Nakao Kanako–Tanase,
Usui Takeshi,
Ikeda Mayumi,
Mori Yusuke,
Yamamoto Tetsuro,
Kawashima Sachiko–Tsukamoto,
Nanba Kazutaka,
Yuno Akiko,
Tamanaha Tamiko,
Tagami Tetsuya,
Naruse Mitsuhide,
Asato Ryo,
Shimatsu Akira
Publication year - 2013
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.23241
Subject(s) - multiple endocrine neoplasia type 2 , multiple endocrine neoplasia , genetics , germline , allele , germline mutation , mutation , biology , thyroid carcinoma , in silico , medicine , cancer research , thyroid , gene
Background Multiple endocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive form of MEN2. MEN2B cases usually carry either an M918T or A883T mutation of the RET , but to date, there are 3 atypical MEN2B caused by tandem mutations. Methods and Results A 32‐year‐old woman with no family history of medullary thyroid carcinoma (MTC) presented with a neck tumor and multiple mucosal nodules. She was diagnosed with MEN2B. Genetic analyses of RET revealed that she had 2 mutations, Q781R and V804M. Subclone and genetic analyses revealed that Q781R was on the paternal allele and V804M was a de novo . In silico analysis of the tandem mutations showed a high prediction score. Conclusions We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B‐like patient. In silico analysis showed a high prediction score, which was compatible with the clinical phenotype in the present case. © 2012 Wiley Periodicals, Inc. Head Neck 35: E363–E368, 2013