A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives

A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives

Author Signorini, Priscila S. Autor UNIFESP Google Scholar
Franca, Maria Inez C. Autor UNIFESP Google Scholar
Camacho, Cleber P. Autor UNIFESP Google Scholar
Lindsey, Susan C. Autor UNIFESP Google Scholar
Valente, Flavia O. F. Autor UNIFESP Google Scholar
Kasamatsu, Teresa S. Autor UNIFESP Google Scholar
Machado, Alberto L. Autor UNIFESP Google Scholar
Salim, Camila P. Autor UNIFESP Google Scholar
Delcelo, Rosana Autor UNIFESP Google Scholar
Hoff, Ana O. Autor UNIFESP Google Scholar
Cerutti, Janete M. Autor UNIFESP Google Scholar
Dias-da-Silva, Magnus R. Autor UNIFESP Google Scholar
Maciel, Rui M. B. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract Objective Reviewing the clinical outcomes of a large kindred with a RET p.Gly533Cys mutation, 10years after the first description of this kindred, has provided an important set of clinical data for healthcare decision-making.Design and Patients We identified 728 RET533 Brazilian relatives, spread out over 7 generations. We performed clinical examination, biochemical and imaging analyses in the proband and in 103 carriers.Measurement and Results the proband has been followed without evidence of structural disease in the last 10years but with elevated calcitonin. the clinical and surgical features of 60 thyroidectomized RET533 relatives were also described. Forty-six patients had MTC (21-72years), and 11 patients had C-cell hyperplasia (CCH) (5-42years). Twelve MTC patients with lymph node metastases had a tumour size of 07-28cm. Calcitonin level and CEA were correlated with disease stage, and none of the patients presented with an altered PTH or metanephrine. A 63-year-old woman developed pheochromocytoma and breast cancer. Two other RET533 relatives developed lung squamous cell carcinoma and melanoma.Conclusions A vast clinical variability in RET533 presentation was observed, ranging from only an elevated calcitonin level (3%) to local metastatic disease (25%). Many individuals were cured (42%) and the majority had controlled chronic disease (56%), reinforcing the need for individualized ongoing risk stratification assessment. the importance of this update relies on the fact that it allows us to delineate the natural history of RET 533 MEN2A 10years after its first description.
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Fleury Group
Grant number FAPESP: 2006/60402-1
FAPESP: 2010/51547-1
FAPESP: 2006/54922-2
Fleury Group: 12518
FAPESP: 2009/50575-5
Date 2014-02-01
Published in Clinical Endocrinology. Hoboken: Wiley-Blackwell, v. 80, n. 2, p. 235-245, 2014.
ISSN 0300-0664 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 235-245
Origin http://dx.doi.org/10.1111/cen.12264
Access rights Closed access
Type Article
Web of Science ID WOS:000329459200011
URI http://repositorio.unifesp.br/handle/11600/37412

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