Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation.

Stem Cell Res

INSERM U935, Université Paris Sud, 94800, Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800, Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University Hospitals, Le Kremlin Bicêtre 94275, France; Division of Hematology, Paris Sud University Hospitals, Villejuif 94800, France. Electronic address:

Published: August 2017

Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. These iPSC had normal karyotype, harboured the RET mutation and expressed pluripotency hallmarks. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice.

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http://dx.doi.org/10.1016/j.scr.2017.07.022DOI Listing

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