Japanese Journal of Clinical Oncology, Vol 28, Issue 10 590-596, Copyright © 1998 by Foundation for Promotion of Cancer Research
S Egawa, H Futami, K Takasaki, M Iihara, T Okamoto, M Kanbe, T Ohi, Y Saio, A Miyauchi, Y Takiyama, M Koga, K Miyanaga, K Inoue, S Mitsuyama, Y Nomura, H Takei, S Mugiya, O Ishida, F Zeze, S Shakutsui, H Inoue, H Oya, A Yoshimura, S Ishizuka, K Yamaguchi and al. et
BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary
syndrome characterized by medullary thyroid carcinoma (MTC),
pheochromocytoma and hyperparathyroidism. MEN 2 is caused predominantly by
germ-line mutations of the RET proto-oncogene. This study aimed to clarify
the genotype-phenotype correlation in MEN 2 patients in Japan in order to
modify the clinical management according to the genotype. METHODS:
Constitutive DNA of 64 MEN 2 patients (48 kindreds) were searched for
mutations at exons 10, 11, 13, 14 and 16 of the RET proto-oncogene using
polymerase chain reaction-single strand conformation polymorphism
(PCR-SSCP), direct sequencing and restriction enzyme digestion. The
clinical characteristics of the patients were obtained from a previous
nationwide questionnaire survey. RESULTS: Overall, 62 (96.9%) out of 64
patients had a germ-line point mutation at the hot spots. MTC and
pheochromocytoma occurred equally in every genotype except C630S. Specific
genotype had a correlation between tumor size and age at the operation for
MTC or extent of MTC, i.e. C618S developed late onset type of MTC as
compared with that of C634R, C634Y and M918T. Small MTC in C634R may be
less aggressive than those in C634Y and M918T. CONCLUSIONS: DNA testing has
good clinical implications for the management of patients with MEN 2 and
the timing and operative procedures of thyroidectomy can be modified
according to the genotype.
CASE REPORTS
Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan
Growth Factor Division, National Cancer Center Research Institute, Tokyo, Japan.
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