FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2: implications for formation and pathogenetic outcome of the idic(7)(p11.2)

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T1 - FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2

T2 - implications for formation and pathogenetic outcome of the idic(7)(p11.2)

AU - Schaad, K

AU - Strömbeck, Bodil

AU - Mandahl, N

AU - Andersen, M K

AU - Heim, S

AU - Mertens, F

AU - Johansson, Bertil

N1 - Copyright (c) 2006 S. Karger AG, Basel.

PY - 2006

Y1 - 2006

N2 - Isochromosome 7q - i(7q) - is seen in a wide variety of hematologic malignancies and solid tumors, often as a secondary change to a characteristic primary translocation. Despite its high frequency, nothing is known about the formation and the pathogenetic outcome of this abnormality. To address these issues, we performed a detailed fluorescence in situ hybridization (FISH) investigation of four acute lymphoblastic leukemias, one acute myeloid leukemia, and two myxoid liposarcomas with i(7q). Using FISH with bacterial artificial chromosomes (BACs) mapping between 7p12.2 and 7q11.2, the breakpoints (BPs) in all seven cases were shown to cluster to an approximately 340 kb segment at 7p11.2, covered by the overlapping BAC probes RP11-760D2 and RP11-10F11. Thus, the i(7q) should formally be designated idic(7) (p11.2). In one of the cases, FISH with fosmids could narrow down the BP further to an 80-kb sequence delineated by G248P81983A10 and G248P8793H7. No known genes are located in the 340-kb BP cluster region, indicating that the idic(7)(p11.2) does not result in a fusion or deregulation of genes in this segment. The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region.

AB - Isochromosome 7q - i(7q) - is seen in a wide variety of hematologic malignancies and solid tumors, often as a secondary change to a characteristic primary translocation. Despite its high frequency, nothing is known about the formation and the pathogenetic outcome of this abnormality. To address these issues, we performed a detailed fluorescence in situ hybridization (FISH) investigation of four acute lymphoblastic leukemias, one acute myeloid leukemia, and two myxoid liposarcomas with i(7q). Using FISH with bacterial artificial chromosomes (BACs) mapping between 7p12.2 and 7q11.2, the breakpoints (BPs) in all seven cases were shown to cluster to an approximately 340 kb segment at 7p11.2, covered by the overlapping BAC probes RP11-760D2 and RP11-10F11. Thus, the i(7q) should formally be designated idic(7) (p11.2). In one of the cases, FISH with fosmids could narrow down the BP further to an 80-kb sequence delineated by G248P81983A10 and G248P8793H7. No known genes are located in the 340-kb BP cluster region, indicating that the idic(7)(p11.2) does not result in a fusion or deregulation of genes in this segment. The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region.

KW - Preschool

KW - Aged

KW - Adult

KW - Chromosomes

KW - Chromosome Breakage: genetics

KW - Human

KW - Female

KW - Pair 7: genetics

KW - In Situ Hybridization

KW - Humans

KW - Isochromosomes: genetics

KW - Fluorescence

KW - Liposarcoma

KW - Myxoid: genetics

KW - Leukemia: pathology

KW - Karyotyping

KW - Leukemia: genetics

KW - Child

KW - Acute Disease

KW - 80 and over

KW - Myxoid: pathology

KW - Male

KW - Middle Aged

KW - Research Support

KW - Non-U.S. Gov't

KW - Adolescent

U2 - 10.1159/000093327

DO - 10.1159/000093327

M3 - Article

VL - 114

SP - 126

EP - 130

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-859X

IS - 2

ER -