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Familial Cancer

, 8:379 | Cite as

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation

  • Caterina Mian
  • Susi Barollo
  • Laura Zambonin
  • Gianmaria Pennelli
  • Paolo Bernante
  • Maria Rosa Pelizzo
  • Davide Nacamulli
  • Franco Mantero
  • Maria Elisa Girelli
  • Giuseppe Opocher
Article

Abstract

RET codon 609 point mutations are rare and may predispose to aggressive medullary thyroid carcinoma (MTC). In a kindred with 15 carriers of the Cys609Ser RET mutation we observed no MTC before 17 years of age, no lymph node metastases before 30 years and no distant metastases before 60 years. Two patients developed pheochromocytoma and one had primary hyperparathyroidism as the first sign of the syndrome. In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.

Keywords

RET MEN2A Medullary thyroid carcinoma Pheochromocytoma 

Notes

Acknowledgments

This study was supported by a grant from Ministero dell’Istruzione, Università e Ricerca No200734RMKE-002 (2008–2009 to C.M.) and PRIN 2006060473_003 (to G.O.). We also thank Mrs. Frances Anne Coburn for text editing.

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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Caterina Mian
    • 1
    • 2
  • Susi Barollo
    • 3
  • Laura Zambonin
    • 1
    • 2
  • Gianmaria Pennelli
    • 3
  • Paolo Bernante
    • 2
    • 4
  • Maria Rosa Pelizzo
    • 2
    • 4
  • Davide Nacamulli
    • 1
    • 2
  • Franco Mantero
    • 1
    • 2
  • Maria Elisa Girelli
    • 1
    • 2
  • Giuseppe Opocher
    • 2
    • 5
  1. 1.Endocrinology UnitUniversity of PaduaPaduaItaly
  2. 2.Department of Medical and Surgical SciencesUniversity of PaduaPaduaItaly
  3. 3.Veneto Institute of OncologyPaduaItaly
  4. 4.Special Surgical Pathology UnitUniversity of PaduaPaduaItaly
  5. 5.Familial Cancer ClinicVeneto Institute of OncologyPaduaItaly

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