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

Clinical Endocrinology
Priscila S SignoriniRui M B Maciel

Abstract

Reviewing the clinical outcomes of a large kindred with a RET p.Gly533Cys mutation, 10 years after the first description of this kindred, has provided an important set of clinical data for healthcare decision-making. 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. The proband has been followed without evidence of structural disease in the last 10 years but with elevated calcitonin. The clinical and surgical features of 60 thyroidectomized RET533 relatives were also described. Forty-six patients had MTC (21-72 years), and 11 patients had C-cell hyperplasia (CCH) (5-42 years). Twelve MTC patients with lymph node metastases had a tumour size of 0·7-2·8 cm. 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. 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...Continue Reading

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Citations

Nov 4, 2016·Endocrine-related Cancer·M Cecília Martins-CostaRui M B Maciel
Feb 25, 2014·Nature Reviews. Cancer·Lois M Mulligan
Jul 18, 2018·Endocrine-related Cancer·Rui M B MacielJanete M Cerutti
Apr 5, 2021·Seminars in Cancer Biology·Jes Sloth MathiesenUlla Feldt-Rasmussen

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