F. Viguie et al., FLUORESCENCE IN-SITU HYBRIDIZATION ANALYSIS OF MINUTE MARKER CHROMOSOMES IN LEUKEMIA WITH MONOSOMY-7, Leukemia, 9(7), 1995, pp. 1154-1158
Monosomy 7 was detected in bone marrow cells from three patients, one
with myeloid leukemia, and two others with myelodysplastic syndrome fo
llowing previous chemotherapy. Fluorescence in situ hybridization (FIS
H), carried out with an alphoid DNA probe specific for chromosome 7 ce
ntromere, showed that a small marker chromosome present in the tumor c
ells' karyotype of the three patients, was derived from the missing ch
romosome 7. In two cases, the marker was a ring chromosome, whereas in
the third case it was a tiny dot-like chromosome, unnoticed at first
examination on R-banded metaphases. In the three cases, the marker was
lost in a proportion of tumor cells. FISH experiments suggested that
the marker centromere had undergone structural alterations, with a flu
orescence pattern distinct from a normal one. On the whole, these data
suggest that: firstly, leukemia-associated monosomy 7 results, in a p
roportion of cases, from a structural event rather than from simple lo
ss of a whole chromosome 7; secondly, interpretation of interphase FIS
H must be cautious in monosomy 7 evaluation; and thirdly structural al
teration of the chromosome 7 derivative alphoid DNA could explain its
propensity to segregate unequally and to be lost at mitosis.