Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

Margarida Maria Moura, Branca Maria Cavaco, António E. Pinto, Rita S. Domingues, Jorge Rosa Santos, M. O. Cid, Maria João Bugalho, Valeriano Leite

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Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10-16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c. 1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P = 0.0051) and number of lymph node metastases (P = 0.0017), and presented more often multifocal tumours (P = 0.037) and persistent disease at last control (P = 0.0242) than group 2. Detectable serum calcitonin levels at last screening (P = 0.0119) and stage IV disease (P = 0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. British Journal of Cancer (2009) 100, 1777-1783. doi: 10.1038/sj.bjc.6605056 Published online 28 April 2009 (C) 2009 Cancer Research UK
Original languageEnglish
Pages (from-to)1777-1783
Number of pages7
JournalBritish Journal of Cancer
Issue number11
Publication statusPublished - 2 Jun 2009


  • sporadic medullary thyroid carcinoma
  • RET proto-oncogene
  • somatic mutation
  • genetic screening
  • prognosis


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