Article
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.
Head & neck - 1 Dec 2013
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
Abstract excerpt
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...
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