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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)379-382
Number of pages4
JournalFamilial Cancer
Volume8
Issue number4
DOIs
Publication statusPublished - Dec 2009

Keywords

  • Medullary thyroid carcinoma
  • MEN2A
  • Pheochromocytoma
  • RET

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)

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    Mian, C., Barollo, S., Zambonin, L., Pennelli, G., Bernante, P., Pelizzo, M. R., Nacamulli, D., Mantero, F., Girelli, M. E., & Opocher, G. (2009). Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation. Familial Cancer, 8(4), 379-382. https://doi.org/10.1007/s10689-009-9250-z