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Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918

Departments of Clinical Genetics and Human Genetics (F.H.M.), Pathology (P.J.v.D.), and Internal Medicine (A.W.F.T.T.), Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands; Department of Internal Medicine (J.M.S.), Medical Center Alkmaar, Alkmaar, The Netherlands; and Departments of Medical Genetics (R.B.v.d.L., I.A.J.d.V.) and Internal Medicine (C.J.M.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands

Address all correspondence and requests for reprints to: Fred H. Menko, M.D., Ph.D., Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands. E-mail: fh.menko.humgen{at}med.vu.nl

A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

Abbreviations: FMTC, Familial MTC; MEN 2, MEN type 2; MTC, medullary thyroid cancer.

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