TY - JOUR
T1 - A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
AU - Hofstra, Robert M.W.
AU - Landsvater, Rudy M.
AU - Ceccherini, Isabella
AU - Stulp, Rein P.
AU - Stelwagen, Tineke
AU - Luo, Yin
AU - Pasini, Barbara
AU - Hoppener, Jo W.M.
AU - Van Amstel, Hans Kristian Ploos
AU - Romeo, Giovanni
AU - Lips, Cornells J.M.
AU - Buys, Charles H.C.M.
PY - 1994/1/1
Y1 - 1994/1/1
N2 - Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) and phaeochromocytoma. MEN 2B patients show in addition ganglioneuromas of the gastrointestinal tract and skeletal abnormalities. In familial MTC, only the thyroid is affected. Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC1,2. All mutations occurred within codons specifying cysteine residues in the transition point between the RETprotein extracellular and transmem-brane domains. We now show that MEN 2B is also associated with mutation of the RET proto-oncogene. A mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated MEN 2B patients studied. The same mutation was found in six out of 18 sporadic tumours.
AB - Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) and phaeochromocytoma. MEN 2B patients show in addition ganglioneuromas of the gastrointestinal tract and skeletal abnormalities. In familial MTC, only the thyroid is affected. Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC1,2. All mutations occurred within codons specifying cysteine residues in the transition point between the RETprotein extracellular and transmem-brane domains. We now show that MEN 2B is also associated with mutation of the RET proto-oncogene. A mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated MEN 2B patients studied. The same mutation was found in six out of 18 sporadic tumours.
UR - http://www.scopus.com/inward/record.url?scp=0028174024&partnerID=8YFLogxK
U2 - 10.1038/367375a0
DO - 10.1038/367375a0
M3 - Article
C2 - 7906866
AN - SCOPUS:0028174024
SN - 0028-0836
VL - 367
SP - 375
EP - 376
JO - Nature
JF - Nature
IS - 6461
ER -