PMID- 21504705
OWN - NLM
STAT- MEDLINE
DCOM- 20110613
LR  - 20110420
IS  - 2210-7762 (Print)
VI  - 204
IP  - 2
DP  - 2011 Feb
TI  - Genomic alterations in myeloid neoplasms with novel, apparently balanced 
      translocations.
PG  - 68-76
LID - 10.1016/j.cancergen.2010.12.005 [doi]
AB  - Characterization of gross chromosomal rearrangements, particularly translocations 
      in neoplasms, has proven to be valuable in patient management by aiding in 
      diagnosis, defining prognosis, and leading to new therapeutic interventions. In 
      this report, we investigate two apparently balanced translocations, 
      t(6;17)(q23.3;p13.3) and t(2;13)(p21;q14.11), in patients with myeloid neoplasms 
      and uncover concomitant microdeletions associated with the breakpoints. 
      Breakpoint mapping by fluorescence in situ hybridization (FISH) detected 
      deletions at or adjacent to all breakpoints. Subsequently, array comparative 
      genomic hybridization on the 244 K Agilent platform refined the deletion 
      boundaries, revealing a 1.7 Mb deletion directly adjacent to the 6q23.3 
      breakpoint, and a 562 kb deletion at 17p13.3 in the first case. The second case 
      was found to harbor a 195 kb deletion at 2p21 and a 1.4 Mb deletion distal to the 
      13q breakpoint at 13q14.3. Additionally, a 133 kb deletion within the breakpoint 
      region at 13q14.11 and a 265 kb deletion proximal to the breakpoint were 
      discovered, neither of which was detected by FISH. Although a gene fusion 
      resulting from either novel rearrangement cannot be determined from these data, 
      formation of a fusion transcript cannot be excluded because the resolution of the 
      techniques used does not allow definite delineation of the breakpoint locations. 
      Although the incidence and clinical relevance of these focal imbalances remains 
      to be evaluated, the cases presented here support high resolution evaluation of 
      presumably balanced rearrangements in neoplasms. Such imbalances may portend 
      important hitherto unrecognized prognostic and diagnostic categories.
CI  - Copyright (c) 2011 Elsevier Inc. All rights reserved.
FAU - Poitras, Jennifer L
AU  - Poitras JL
AD  - Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
FAU - Costa, Dolors
AU  - Costa D
FAU - Kluk, Michael J
AU  - Kluk MJ
FAU - Amrein, Philip C
AU  - Amrein PC
FAU - Stone, Richard M
AU  - Stone RM
FAU - Lee, Charles
AU  - Lee C
FAU - Dal Cin, Paola
AU  - Dal Cin P
FAU - Morton, Cynthia C
AU  - Morton CC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Comparative Genomic Hybridization
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2011/04/21 06:00
MHDA- 2011/06/15 06:00
CRDT- 2011/04/21 06:00
PHST- 2010/08/02 00:00 [received]
PHST- 2010/11/30 00:00 [revised]
PHST- 2010/12/08 00:00 [accepted]
PHST- 2011/04/21 06:00 [entrez]
PHST- 2011/04/21 06:00 [pubmed]
PHST- 2011/06/15 06:00 [medline]
AID - S2210-7762(10)00603-4 [pii]
AID - 10.1016/j.cancergen.2010.12.005 [doi]
PST - ppublish
SO  - Cancer Genet. 2011 Feb;204(2):68-76. doi: 10.1016/j.cancergen.2010.12.005.