K. Michalova et al., PARTIAL TRISOMY OF 3Q DETECTED BY CHROMOSOME PAINTING IN A CASE OF JUVENILE CHRONIC MYELOMONOCYTIC LEUKEMIA, Cancer genetics and cytogenetics, 71(1), 1993, pp. 67-70
Juvenile chronic myelomonocytic leukemia (JCMMoL) is a rare disease wi
th no specific type of chromosome aberration yet delineated. We report
a P-year-old boy who had in his leukemic bone marrow (BM) and periphe
ral blood (PB) cells the 46,XY,der(15)t(3;15)(q13.1;q26) karyotype. Ph
ytohemagglutinin (PHA)-stimulated lymphocytes of peripheral blood had
a normal 46,XY karyotype. The origin of the duplicated part of 3q was
proved by fluorescence in situ hybridization (FISH) with the pHSR(sat
III 15p) DNA probe and a chromosome 3-specific DNA library (i.e., chro
mosome painting). The chromosome finding in our case provides further
proof of the close relationship between the rearrangement in region 3q
13-->3q26 and the pathogenesis of acute myeloid leukemia (AML). Our pa
tient has transformed into erythroleukemia [M6 according to the French
-American-British (FAB) classification] during the course of the disea
se.