• Jpn. J. Clin. Oncol. · Aug 1997

    Case Reports

    A case of multiple endocrine neoplasia type 2B.

    • M Ohta, Y Tokuda, Y Suzuki, S Kuge, A Okumura, M Kubota, T Tajima, R Y Osamura, and T Mitomi.
    • Department of Surgery, Tokai University School of Medicine, Kanagawa, Japan.
    • Jpn. J. Clin. Oncol. 1997 Aug 1; 27 (4): 268-73.

    AbstractA sporadic case of multiple endocrine neoplasia type 2B in a twenty-six year old man who manifested medullary thyroid carcinoma, multiple mucosal neuromas of the tongue and a marfanoid habitus is reported. At the time of diagnosis, he also had multiple liver and lung metastases. Genetic analysis of his lymphocytes revealed a point mutation in exon 16 of the RET proto-oncogene. Since multiple endocrine neoplasia type 2B has a relatively poor prognosis because of the occasional aggressive behavior of medullary thyroid carcinoma, the necessity of the genetic diagnosis of multiple endocrine neoplasia in the early stage is suggested.

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