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

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 fe...

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Bibliographic Details
Published in:Stem cell research 2017-08, Vol.23 (C), p.154-157
Main Authors: Bennaceur-Griscelli, A., Hadoux, J., Féraud, O., Opolon, P., Divers, D., Gobbo, E., Schlumberger, M., Griscelli, F., Turhan, A.G.
Format: Article
Language:English
Subjects:
Cell Culture Techniques - methods
Cell Line
Humans
Induced Pluripotent Stem Cells - pathology
Multiple Endocrine Neoplasia Type 2b - genetics
Multiple Endocrine Neoplasia Type 2b - pathology
Mutation - genetics
Proto-Oncogene Proteins c-ret - genetics
Risk Factors
Young Adult
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Summary: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 RETM918T mutation and expressed pluripotency hallmarks. A comprehensive pathological assessment of teratoma was performed after injection in immunodeficient mice.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2017.07.022