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      Genetic Alterations of the RET Proto-Oncogene in Familial and Sporadic Pheochromocytomas

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          Abstract

          The identification of RET proto-oncogene mutations associated with multiple endocrine neoplasia type 2 (MEN-2) has provided a convenient screening test for MEN-2 in patients with pheochromocytoma (PH). In 120 patients with apparently sporadic PH, we analyzed RET exons 10, 11, 13 and 16 using denaturing gradient gel electrophoresis and found a Leu to Phe missense mutation at codon 790 (exon 13) in 1 case. A TaqI polymorphism located at exon 13 and an AluI polymorphism at exon 14 were present with a similar frequency in the 120 sporadic PH and in 94 unaffected normotensive Caucasian subjects. In 60 patients with PH, including 14 with documented MEN-2, we compared genetic testing with the pentagastrin stimulation test. The latter was 100% sensitive and 92% specific, whereas genetic testing was 88% sensitive and 100% specific. Additional somatic mutations were sought in 35 sporadic PH. Two missense mutations affecting RET exons 11 (C634R) and 16 (M918T) and three neutral mutations at codon 836 of exon 14 associated with the Alul polymorphism were detected. Detection of RET mutations in patients with PH is safe, specific and convenient. Tumoral mutations of the RET gene may play a role in medullary tumorigenesis but seem to be less frequent than previously reported.

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          Author and article information

          Journal
          HRE
          10.1159/issn.0018-5051
          Hormone Research in Paediatrics
          S. Karger AG
          978-3-8055-6504-2
          978-3-318-01928-5
          0018-5051
          2571-6603
          1997
          1997
          09 December 2008
          : 47
          : 4-6
          : 263-268
          Affiliations
          aHypertension Unit and Laboratory of Molecular Genetics, Hôpital Broussais, and bINSERM U-129, Hôpital Cochin, Paris, France
          Article
          185474 Horm Res 1997;47:263–268
          10.1159/000185474
          © 1997 S. Karger AG, Basel

          Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

          Page count
          Pages: 6
          Categories
          Recent Progress on the Molecular Aspects of Endocrine Tumors: Clinical Implications

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