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RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest

Eliska Vaclavikova1, Sarka Dvorakova, Vlasta Sykorova

  • 1Department of Molecular Endocrinology, Institute of Endocrinology, Narodni 8, 116 94, Prague 1, Czech Republic. evaclavikova@endo.cz

Endocrine
|October 15, 2009
PubMed

Insights

The RET proto-oncogene Tyr791Phe mutation shows varied clinical effects, appearing in both gain-of-function (medullary thyroid carcinoma) and loss-of-function (Hirschsprung

Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Activating RET proto-oncogene mutations are linked to familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A/2B.
  • Inactivating RET mutations are associated with Hirschsprung's disease (HSCR).
  • The Tyr791Phe mutation in RET exon 13 is frequently discussed for its role in these conditions.

Observation:

  • Screening of 276 FMTC/MTC, 122 HSCR, and 29 pheochromocytoma families identified the Tyr791Phe mutation in sporadic MTC, FMTC/MEN2, pheochromocytoma, and HSCR.
  • All Tyr791Phe carriers also possessed the Leu769Leu polymorphism in exon 13.
  • Second germline mutations (Cys620Phe, Met918Thr, Ser649Leu) were found in three families.

Findings:

  • The Tyr791Phe mutation was detected in patients with medullary thyroid carcinoma (MTC), multiple endocrine neoplasia (MEN) types 2A/2B, pheochromocytoma, and Hirschsprung's disease (HSCR).
  • This suggests the Tyr791Phe mutation may possess dual gain-of-function and loss-of-function characteristics.
  • A rare malignant pheochromocytoma case associated with Tyr791Phe is presented.

Implications:

  • The study highlights the diverse clinical manifestations associated with the RET Tyr791Phe mutation.
  • Understanding these genotype-phenotype correlations is crucial for accurate diagnosis and genetic counseling.
  • Further research is needed to fully elucidate the dual functional capacity of this RET mutation.

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