P. Tomassetti et al., CHROMOSOMAL INSTABILITY IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 - CYTOGENETIC EVALUATION WITH DEB TEST, Cancer genetics and cytogenetics, 79(2), 1995, pp. 123-126
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant c
ondition with high penetrance and variable expressivity, in which tumo
rs or hyperplasia occur in two or more endocrine organs. Some authors
have investigated chromosomal instability in MEN 1 and MEN 2; the resu
lts are controversial. Chromosome analyses were performed on lymphocyt
es from seven patients with MEN 1, four healthy first-degree relatives
(three of whom were children), six phenotypically normal volunteers,
and three patients with Fanconi's anemia. To evaluate chromosomal inst
ability we analyzed phytohemagglutinin-stimulated lymphocyte cultures
with and without diepoxibutane. We observed an increase in the frequen
cy of spontaneous chromosomal alterations in four patients. After the
DEB test we found an increase in chromatid breakages, gaps, and exchan
ge figures. These findings support the inclusion of the MEN 1 syndrome
among the disorders with ''chromosomal instability.''