title: Chromosome 22 breakpoints in variant Philadelphia translocations and Philadelphia-negative chronic myeloid leukemia.
abstract: The standard t(9;22)(q34;q11) found in Philadelphia (Ph) chromosome positive chronic myeloid leukemia (CML) involves a highly restricted (5.8 kb) chromosome 22 breakpoint cluster region (bcr), which results in the formation of a chimeric gene comprising exons from the 5' end of bcr and protooncogene c-abl coding sequences from chromosome 9. In a survey of 21 patients with hematologic and clinical features of CML we detected rearrangement of the chromosome 22 bcr by gene probe analysis in all cases, including 16 with a standard t(9;22), two with variant Ph translocations [t(10;22)(q26;q11);t(11;22)(p15;q11)], one with a complex Ph translocation [t(9;11;22)(q34;q13;q11)], one with a complex translocation and a masked Ph[t(9;14;22) (q34;q24;q11)], and one Ph-negative case with a t(1;9)(p32;q34). These observations further substantiate the suggestion that, despite karyotypic heterogeneity, a common underlying molecular lesion, the bcr-abl gene chimera, is involved in the disease pathogenesis of CML.
authors.affiliation: Academic Department of Haematology, Royal Free Hospital School of Medicine, London, England.
authors.forename: P J
authors.initials: PJ
authors.lastname: Browett
authors.forename: H M
authors.initials: HM
authors.lastname: Cooke
authors.forename: L M
authors.initials: LM
authors.lastname: Secker-Walker
authors.forename: J D
authors.initials: JD
authors.lastname: Norton
mesh_terms: D000328:Adult; D000368:Aged; D016026:Bone Marrow Transplantation; D002648:Child; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D011519:Proto-Oncogenes