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Pheochromocytoma and Medullary Thyroid Carcinoma: A New Genotype-Phenotype Correlation of the RET Protooncogene 891 Germline Mutation

Departments of Endocrine Neoplasia and Hormonal Disorders (C.J., M.A.H., S.-C.E.H., G.C., R.F.G.), Surgical Oncology (S.E.S., D.B.E.), and Pathology (A.E.-N.), The University of Texas MD Anderson Cancer Center, Houston, Texas 77030

Address all correspondence and requests for reprints to: Robert F. Gagel, The University of Texas MD Anderson Cancer Center, Department of Endocrine Neoplasia and Hormonal Disorders, 1515 Holcombe Boulevard, Unit 435, Houston, Texas 77030. E-mail: rgagel{at}mdanderson.org.

Prior experience in kindreds with a codon 891 RET protooncogene mutation indicates that carriers of this mutation develop only hereditary medullary thyroid carcinoma without evidence of other manifestations of multiple endocrine neoplasia type 2. In this paper, we report the first documented case in which medullary thyroid carcinoma and pheochromocytoma were clinically expressed in members of a family affected by the codon 891 RET mutation. Genetic analysis of the RET protooncogene in this family revealed an exon 15 missense mutation at codon 891 that resulted in a serine to alanine amino acid substitution. These findings indicate that patients with this mutation should be screened for pheochromocytoma.

C.J. and M.A.H. hold joint Endocrinology, Diabetes, and Metabolism Fellowships at The University of Texas MD Anderson Cancer Center (Houston, TX) and Baylor College of Medicine (Houston, TX).

Abbreviations: FMTC, Familial MTC; MEN, multiple endocrine neoplasia type; MTC, medullary thyroid carcinoma; TK, tyrosine kinase.

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