Clinical manifestations of familial medullary thyroid carcinoma.
We conducted a large-scale nation-wide questionnaire survey to ascertain the status of familial medullary thyroid carcinoma (MTC) in Japan in 2002. Out of a total of 271 MTC cases (male to female ratio 1:1.4), multiple endocrine neoplasia (MEN) 2A accounted for 83 cases (30.6%), familial MTC (FMTC) for 14 cases (5.1%), MEN for 11 cases (4.1%), and sporadic MTC for 163 cases (60.1%). Mean age at the time of diagnosis was 35.6 in MEN2A, 34.6 in FMTC, 30.5 in MEN2B, and 47.6 in sporadic MTC. Forty-five percent of MEN2A patients had pheochromocytoma and 11% of MEN2A patients had parathyroid disorders when MTC was diagnosed. Finally, the RET oncogene test yielded the largest number of initial findings that led to diagnosis of familial MTC.
Division of Diagnostic Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. kameyama@sc.itc.keio.ac.jp
Kaori
K
Kameyama
Hiroko
H
Okinaga
Hiroshi
H
Takami
D000310:Adrenal Gland Neoplasms / Q000453:epidemiology / Q000235:genetics; D000328:Adult; D018276:Carcinoma, Medullary / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000453:epidemiology / Q000235:genetics; D018814:Multiple Endocrine Neoplasia Type 2b / Q000453:epidemiology / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D010279:Parathyroid Diseases / Q000453:epidemiology / Q000235:genetics; D010673:Pheochromocytoma / Q000453:epidemiology / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000453:epidemiology* / Q000235:genetics*
D015513:Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases