The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature.

@article{Blom2012TheRI,
  title={The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature.},
  author={Carla Brauner Blom and Lucieli Ceolin and M{\'i}rian Romitti and D{\'e}bora Rodrigues Siqueira and Ana L. L. M. Maia},
  journal={Arquivos brasileiros de endocrinologia e metabologia},
  year={2012},
  volume={56 8},
  pages={586-91}
}
Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heritable disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered fundamental in MTC management but the extent of the molecular analysis required to… CONTINUE READING

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