Novel FISH probes designed to detect IGK-MYC and IGL-MYC rearrangements in b-cell lineage malignancy identify a new breakpoint cluster region designated BVR2

Detection of translocations involving MYC at 8q24.1 in B-cell lineage malignancies (BCL) is important for diagnostic and prognostic purposes. However, routine detection of MYC translocations is often hampered by the wide variation in breakpoint location within the MYC region, particularly when a gen...

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Veröffentlicht in:Leukemia 2006-10, Vol.20 (10), p.1790-1799
Hauptverfasser: EINERSON, R. R, LAW, M. E, BLAIR, H. E, KURTIN, P. J, MCCLURE, R. F, KETTERLING, R. P, FLYNN, H. C, DOGAN, A, REMSTEIN, E. D
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container_end_page 1799
container_issue 10
container_start_page 1790
container_title Leukemia
container_volume 20
creator EINERSON, R. R
LAW, M. E
BLAIR, H. E
KURTIN, P. J
MCCLURE, R. F
KETTERLING, R. P
FLYNN, H. C
DOGAN, A
REMSTEIN, E. D
description Detection of translocations involving MYC at 8q24.1 in B-cell lineage malignancies (BCL) is important for diagnostic and prognostic purposes. However, routine detection of MYC translocations is often hampered by the wide variation in breakpoint location within the MYC region, particularly when a gene other than IGH, such as IGK or IGL, is involved. To address this issue, we developed and validated four fluorescence in situ hybridization (FISH) probes: two break apart probes to detect IGK and IGL translocations, and two dual-color, dual-fusion FISH (D-FISH) probes to detect IGK-MYC and IGL-MYC. MYC rearrangements (four IGK-MYC, 12 IGL-MYC and four unknown partner gene-MYC) were correctly identified in 20 of 20 archival BCL specimens known to have MYC rearrangements not involving IGH. Seven specimens, all of which lacked MYC rearrangements using a commercial IGH/MYC D-FISH probe, were found to have 8q24 breakpoints within a cluster region >350-645 kb 3' from MYC, provisionally designated as Burkitt variant rearrangement region 2 (BVR2). FISH is a useful ancillary tool in identifying MYC rearrangements. In light of the discovery of the distally located BVR2 breakpoint cluster region, it is important to use MYC FISH probes that cover a breakpoint region at least 1.0 Mb 3' of MYC.
doi_str_mv 10.1038/sj.leu.2404340
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subjects B-Lymphocytes - physiology
Biological and medical sciences
Breakpoints
Cell lineage
Chromosomes, Artificial, Bacterial - genetics
Cloning
Clusters
Cytogenetics
DNA Probes - genetics
Fluorescence
Fluorescence in situ hybridization
Gene loci
Gene Rearrangement, B-Lymphocyte - genetics
Genes, myc - genetics
Genetic Testing - methods
Heavy chains
Hematologic and hematopoietic diseases
Humans
Hybridization
Immunoglobulin Light Chains - genetics
Immunoglobulins
Immunoglobulins - genetics
In Situ Hybridization, Fluorescence - methods
Leukemia
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Lymphocytes B
Lymphoma
Lymphoma, B-Cell - diagnosis
Lymphoma, B-Cell - genetics
Malignancy
Medical prognosis
Medical sciences
Myc protein
Pathology
Probes
Translocation
Translocation, Genetic - genetics
title Novel FISH probes designed to detect IGK-MYC and IGL-MYC rearrangements in b-cell lineage malignancy identify a new breakpoint cluster region designated BVR2
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