Cytogenetic studies of individuals from four kindreds with multiple endocrine neoplasia type II syndrome.
Multiple endocrine neoplasia type II (MEN-II) syndrome is an autosomal dominant condition characterized by medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid adenoma. A cytogenetic investigation was conducted on 13 MEN-II syndrome patients from four unrelated kindreds and 13 age-matched control subjects for chromosome instability and the chromosome 20 deletion reported in MEN-II syndrome. A significant increase (p less than 0.05) was found in the total number of chromatid and chromosome aberrations in MEN-II cells (12.3%) compared with control cells (6.9%) grown at 96 hours in mitomycin C (20 ng/ml, final concentration). The major difference between the two groups was in chromatid, and not chromosome, aberrations. There was no difference between MEN-II and control individuals in fragile site expression, the number of sister chromatid exchanges or cell kinetics. A blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from 13 MEN-II and seven control individuals. Twelve of 13 MEN-II patients and one of seven control subjects were scored as having a 20p12.2 deletion (chi 2 = 12.6; p less than 0.001). Additional research is needed to determine if this cytogenetic finding is due to a chromosome deletion, inversion, or polymorphism.
D000328:Adult; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D005492:Folic Acid / Q000494:pharmacology; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D012854:Sister Chromatid Exchange
D008937:Mitomycins; D016685:Mitomycin; D005492:Folic Acid