Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene.
A germline mutation either in exon 10 or 11 of the RET proto-oncogene is found in the majority of patients with multiple endocrine neoplasia type 2A (MEN 2A). A 41-year-old female patient was referred for further evaluation of incidentally discovered right adrenal tumor. She had bilateral adrenal pheochromocytomas and medullary thyroid carcinomas detected by endocrinological and radiological examination, and diagnosed as MEN 2A. Molecular genetic testing of the RET exons 10 and 11 exhibited the identical somatic missense mutation at codon 634 in both tumors but did not confirm germline mutations in the corresponding sites. Possible mechanisms for tumorigenesis in this patient are discussed.
Akama
H
H
Second Department of Internal Medicine, Tohoku University School of Medicine, Sendai.
Noshiro
T
T
Kimura
N
N
Shimizu
K
K
Watanabe
T
T
Shibukawa
S
S
Nakai
S
S
Miura
W
W
Ito
S
S
Miura
Y
Y
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000315:Adrenalectomy; D000328:Adult; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D003062:Codon; D004273:DNA, Neoplasm / Q000032:analysis; D029721:Drosophila Proteins; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013965:Thyroidectomy; D014057:Tomography, X-Ray Computed
D003062:Codon; D004273:DNA, Neoplasm; D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila