Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy.

@article{Porcellini1994NovelMO,
  title={Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy.},
  author={Antonio Porcellini and Ilaria Ciullo and Luigi Laviola and Gerardo Amabile and Gianfranco Fenzi and Vittorio Enrico Avvedimento},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1994},
  volume={79 2},
  pages={
          657-61
        }
}
Hyperfunctioning thyroid adenomas are clonal neoplasms with the intrinsic capacity of growing and differentiate independently of thyroid-stimulating hormone (TSH). We analysed the mRNA encoding thyrotropin receptor of 11 adenomas obtained by fine needle aspiration biopsy (FNAB) and found 7 mutants all located in three aminoacids clustered in the sixth transmembrane domain of the receptor. These mutations were somatic and specifically present in the tumour tissue. DNA sequence revealed that 80… CONTINUE READING

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