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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Published inStem cell research Vol. 23; no. C; pp. 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 Journal Article
LanguageEnglish
Published England Elsevier B.V 01.08.2017
Elsevier
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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Abstract 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.
AbstractList 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.
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.
Author Opolon, P.
Divers, D.
Féraud, O.
Schlumberger, M.
Hadoux, J.
Turhan, A.G.
Griscelli, F.
Bennaceur-Griscelli, A.
Gobbo, E.
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10.1093/hmg/2.7.851
10.1016/j.cell.2007.11.019
10.1089/thy.2014.0335
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Snippet Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the...
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SubjectTerms 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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Title Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with “highest risk” RET mutation
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