The Hirschsprung's-multiple endocrine neoplasia connection.

Clinics
S W Moore, M G Zaahl

Abstract

The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. The multiple endocrine neoplasia 2-Hirschsprung's disease association has been shown to cosegregate in Hirschsprung's disease patients with both short- and long-segment aganglionosis, although patients with long-segment aganglionosis a to carry the greatest risk. The Hirschsprung's disease-medullary thyroid carcinoma relationship also appears to be bi-directional, and activation or suppression of the rearranged during transfection gene appeared to vary over succeeding generations within the same family. Rearranged during transfection gene variations are associated with both conditions. The cosegregation of Hirschsprung's disease and multiple endocrine neoplasia 2 is particularly interesting as it involves both "switch off" and "switch on" of the rearranged during transfection proto-oncogene in the same patient. This cosegregation mostly relates to the cysteine-rich area on RET620 (the "Janus gene"). The mechanism whereby rearranged during transfection influences gene activation in multiple endocrine neoplasia 2 is complex, but genetic variations impair the rearranged during transfection tyrosine kinase res...Continue Reading

Citations

Sep 15, 2016·The New England Journal of Medicine·James A Fagin, Samuel A Wells
Apr 2, 2020·Frontiers in Endocrinology·Alessandro PreteMarialuisa Sponziello
Jun 8, 2021·Anales De Pediatría·Marta Lorente-RosJesús Solera-García

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Methods Mentioned

BETA
transfection

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