Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

Oliver Gimm; Debbie J. Marsh; Scott D. Andrew; Andrea Frilling; Patricia L.M. Dahia; Lois M. Mulligan; Jeffrey D. Zajac; Bruce G. Robinson; Charis Eng

doi:10.1210/jcem.82.11.4508

Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

Oliver Gimm, Debbie J. Marsh, Scott D. Andrew, Andrea Frilling, Patricia L.M. Dahia, Lois M. Mulligan, Jeffrey D. Zajac, Bruce G. Robinson, Charis Eng

Research output: Contribution to journal › Article › peer-review

184 Scopus citations

Abstract

The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

Original language	English (US)
Pages (from-to)	3902-3904
Number of pages	3
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	82
Issue number	11
DOIs	https://doi.org/10.1210/jcem.82.11.4508
State	Published - 1997
Externally published	Yes

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Endocrinology
Clinical Biochemistry
Biochemistry, medical

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Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., Dahia, P. L. M., Mulligan, L. M., Zajac, J. D., Robinson, B. G., & Eng, C. (1997). Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. Journal of Clinical Endocrinology and Metabolism, 82(11), 3902-3904. https://doi.org/10.1210/jcem.82.11.4508

Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. / Gimm, Oliver; Marsh, Debbie J.; Andrew, Scott D.; Frilling, Andrea; Dahia, Patricia L.M.; Mulligan, Lois M.; Zajac, Jeffrey D.; Robinson, Bruce G.; Eng, Charis.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 82, No. 11, 1997, p. 3902-3904.

Research output: Contribution to journal › Article › peer-review

Gimm, O, Marsh, DJ, Andrew, SD, Frilling, A, Dahia, PLM, Mulligan, LM, Zajac, JD, Robinson, BG & Eng, C 1997, 'Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation', Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 11, pp. 3902-3904. https://doi.org/10.1210/jcem.82.11.4508

Gimm, Oliver ; Marsh, Debbie J. ; Andrew, Scott D. ; Frilling, Andrea ; Dahia, Patricia L.M. ; Mulligan, Lois M. ; Zajac, Jeffrey D. ; Robinson, Bruce G. ; Eng, Charis. / Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. In: Journal of Clinical Endocrinology and Metabolism. 1997 ; Vol. 82, No. 11. pp. 3902-3904.

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title = "Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation",

abstract = "The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.",

author = "Oliver Gimm and Marsh, {Debbie J.} and Andrew, {Scott D.} and Andrea Frilling and Dahia, {Patricia L.M.} and Mulligan, {Lois M.} and Zajac, {Jeffrey D.} and Robinson, {Bruce G.} and Charis Eng",

year = "1997",

doi = "10.1210/jcem.82.11.4508",

language = "English (US)",

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T1 - Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

AU - Gimm, Oliver

AU - Marsh, Debbie J.

AU - Andrew, Scott D.

AU - Frilling, Andrea

AU - Dahia, Patricia L.M.

AU - Mulligan, Lois M.

AU - Zajac, Jeffrey D.

AU - Robinson, Bruce G.

AU - Eng, Charis

PY - 1997

Y1 - 1997

N2 - The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

AB - The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

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Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

Abstract

ASJC Scopus subject areas

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