RET receptor signaling: Dysfunction in thyroid cancer and Hirschsprung's disease

Naoya Asai, Mayumi Jijiwa, Atsushi Enomoto, Kumi Kawai, Kengo Maeda, Masatoshi Ichiahara, Yoshiki Murakumo, Masahide Takahashi

Research output: Contribution to journalReview articlepeer-review

65 Citations (Scopus)


Gain-of-function mutations within the receptor tyrosine kinase gene RET cause inherited and non-inherited thyroid cancer. Somatic gene rearrangements of RET have been found in papillary thyroid carcinoma and germline point mutations in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC). Conversely, loss-of-function mutations are responsible for the development of Hirschsprung's disease, a congenital malformation of the enteric nervous system. Comparison between normal RET signaling activated by the RET ligand glial cell line-derived neurotrophic factor (GDNF) and abnormal RET signaling caused by various mutations has led to a deeper understanding of disease mechanisms. The focus of the present review is on recent progress in the study of RET signaling dysfunction in human diseases.

Original languageEnglish
Pages (from-to)164-172
Number of pages9
JournalPathology International
Issue number4
Publication statusPublished - 04-2006
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine


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