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 |
| State | Published - 1997 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Biochemistry
- Endocrinology, Diabetes and Metabolism
Cite this
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; 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
}
TY - JOUR
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
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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UR - http://www.scopus.com/inward/citedby.url?scp=0030722592&partnerID=8YFLogxK
M3 - Article
C2 - 9360560
AN - SCOPUS:0030722592
VL - 82
SP - 3902
EP - 3904
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
SN - 0021-972X
IS - 11
ER -