title: Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21.
abstract: Chromosomal translocations are frequently linked to multiple hematological malignancies. The study of the resulting abnormal gene products has led to fundamental advances in the understanding of cancer biology. This is the first report of t(2;15)(p23;q22) and t(2;17)(p23;q21) translocations in human malignancy. Patient 1, a 73-year-old male, was diagnosed with myeloblastic (FAB M1 sub-type) AML. Cytogenetic analysis showed a 47,XY,t(2;15)(p23;q22),+13 karyotype. Fluorescent in situ hybridization (FISH) showed that the PML gene was transferred intact to the short arm of chromosome 2 while the ALK gene on chromosome 2p23 was passively transferred to the long arm of chromosome 15. Patient 2 was a 60-year-old male diagnosed with monocytic (FAB M4-type) AML. Cytogenetic analysis showed 46,XY,t(2;17)(p23;q21) karyotype. FISH analysis showed that neither RARalpha nor ALK were disrupted by the translocation. None of the coding region of the three genes studied were translocated in these patients. This raises the possibilities that other neighboring genes could be involved or that noncoding regulatory sequences of the studied genes could be put in contact and deregulate expression of other genes. Alternatively, displacement of ALK, RARalpha and PML to novel positions could lead to loss of their normal regulation
authors.affiliation: Division of Hematology, Tumor Cytogenetics Laboratory, Mount Sinai Medical Center, New York, NY 10029, USA.
authors.forename: A
authors.initials: A
authors.lastname: Melnick
authors.forename: S
authors.initials: S
authors.lastname: Fruchtman
authors.forename: A
authors.initials: A
authors.lastname: Zelent
authors.forename: M
authors.initials: M
authors.lastname: Liu
authors.forename: Q
authors.initials: Q
authors.lastname: Huang
authors.forename: B
authors.initials: B
authors.lastname: Boczkowska
authors.forename: M
authors.initials: M
authors.lastname: Calasanz
authors.forename: A
authors.initials: A
authors.lastname: Fernandez
authors.forename: J D
authors.initials: JD
authors.lastname: Licht
authors.forename: V
authors.initials: V
authors.lastname: Najfeld
mesh_terms: D000208:Acute Disease; D000368:Aged; D000077548:Anaplastic Lymphoma Kinase; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases; D014178:Translocation, Genetic
chemical_list: C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases