title: [Cytogenetic and molecular aspects of Ph-positive leukemia].
abstract: Cytogenetic and molecular aspects of Ph-positive leukemia are described in comparison with those of Ph-positive CML. Chromosomal characteristics of Ph+AL are; 1) mixture of a normal karyotype at diagnosis, 2) frequent combination with +Ph, +21, +6, +8, or -7, 3) recovery of a normal karyotype at remission. Additional chromosome changes at myeloid blast crisis (BC) of CML are characterized by +Ph, i(17q), +8, or +19. Meanwhile, lymphoid BC exhibits +Ph, +21, but not i(17q) or +19. There seems no cytogenetic difference between Ph+AL and lymphoid BC of CML, but i(17q) may be specific for CML BC. Eight patients with Ph+AL were studied with pulsed-field gel electrophoresis (PFGE) to examine the break site within ABL and BCR genes. One case had a M-BCR rearrangement and the remainder a rearrangement upstream of M-BCR. Minor-BCR rearrangement occurs seldom in CML but is detected in approximately a half of the reported cases of Ph+AL. ABL was rearranged within 1st or 2nd intron in all 8 cases. ABL breakpoints appear randomly distributed between exons 1b and 2 in both Ph+AL and CML.
authors.affiliation: Third Department of Medicine, Kyoto Prefectural University of Medicine.
authors.forename: S
authors.initials: S
authors.lastname: Misawa
authors.forename: H
authors.initials: H
authors.lastname: Nishigaki
mesh_terms: D000328:Adult; D000368:Aged; D001752:Blast Crisis; D002675:Child, Preschool; D002873:Chromosome Fragility; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008223:Lymphoma / Q000235:genetics; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics