title: New type of Bcr/Abl junction in Philadelphia chromosome-positive chronic myelogenous leukemia.
abstract: A new and rare type of Bcr/Abl junction between exon C3 of the 3' portion of the Bcr gene and Abl exon 2 has been identified in the leukemic cells of two Ph1-positive chronic myelogenous leukemia patients in chronic phase. This is the fourth type of Bcr/Abl junction so far identified in Ph1-positive hematologic malignancies and is a consequence of an unusual breakpoint position on chromosome 22 that falls approximately 20 kb downstream of the major breakpoint cluster region (bcr) of the Bcr gene. The new hybrid mRNA is 540 base pairs (bp) longer than that expressed by the K562 cell line and could codify for a Bcr/Abl protein carrying 180 additional aminoacids with respect to the larger P210 protein so far identified. The hematologic phenotype expressed by the two patients carrying this unusual type of Bcr/Abl rearrangement does not significantly differ from that commonly seen in chronic myelogenous leukemia.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Universitá di Torino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Saglio
authors.forename: A
authors.initials: A
authors.lastname: Guerrasio
authors.forename: C
authors.initials: C
authors.lastname: Rosso
authors.forename: A
authors.initials: A
authors.lastname: Zaccaria
authors.forename: A
authors.initials: A
authors.lastname: Tassinari
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: G
authors.initials: G
authors.lastname: Rege-Cambrin
authors.forename: U
authors.initials: U
authors.lastname: Mazza
authors.forename: F
authors.initials: F
authors.lastname: Gavosto
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D005091:Exons; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics; D016313:Genes, abl / Q000235:genetics; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008969:Molecular Sequence Data; D011505:Protein-Tyrosine Kinases; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051562:Proto-Oncogene Proteins c-bcr
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; D016044:Fusion Proteins, bcr-abl; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr