Hereditary Thyroid Disease
Two RET protooncogene variants occur in an ACTH-producing pheochromocytoma
Published in Cancer Weekly, February 25th, 2003
According to a study from Brazil, "Multiple endocrine neoplasia type 2 (MEN 2) comprises a heterogeneous group of neoplastic disorders that most commonly have a single missense substitution of the RET protooncogene (REP involving exons 10 and 11). It was previously reported a MEN 2A kindred in which the father presented with a rare phenotype consisting of bilateral ACTH-producing pheochromocytoma and medullary thyroid carcinoma. We recently performed mutational analysis of the father and his 4 children using a denaturing gradient gel electrophoresis approach and PCR-amplified genomic DNA, followed by direct sequencing or restriction fragment length polymorphism testing.
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Source: Cancer Weekly (2003-02-25)
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