PMID- 22137489
OWN - NLM
STAT- MEDLINE
DCOM- 20120403
LR  - 20111205
IS  - 2210-7762 (Print)
VI  - 204
IP  - 10
DP  - 2011 Oct
TI  - t(9;22)(q34;q11.2) is a recurrent constitutional non-Robertsonian translocation 
      and a rare cytogenetic mimic of chronic myeloid leukemia.
PG  - 572-6
LID - 10.1016/j.cancergen.2011.10.006 [doi]
AB  - The diagnosis of hematologic malignancy can be greatly aided by the detection of 
      a cytogenetic abnormality. However, care must be taken to ensure that 
      constitutional chromosomal abnormalities are not misattributed to a putative 
      population of malignant cells. Here we present an unusual case in which a 
      constitutional balanced t(9;22)(q34;q11.2) cytogenetically mimicked the acquired, 
      t(9;22)(q34;q11.2), that is characteristic of chronic myeloid leukemia. Of 
      special note, fluorescence in situ hybridization (FISH) analysis for this 
      constitutional translocation (9;22)(q34;q11.2) using standard probes for BCR and 
      ABL1 resulted in an abnormal pattern that was potentially misinterpretable as a 
      BCR-ABL1 fusion. This is the first reported FISH analysis of a constitutional 
      t(9;22)(q34;q11.2), and overall only the second report of such an abnormality. In 
      light of the isolated prior report, our case also suggests that the 
      constitutional t(9;22)(q34;q11.2) is one of the very few recurrent constitutional 
      non-Robertsonian translocations described in humans. Our case underscores the 
      necessity of complete clinical and laboratory correlation to avoid misdiagnosis 
      of myeloid malignancy in the setting of rare constitutional cytogenetic 
      abnormalities.
CI  - Copyright (c) 2011 Elsevier Inc. All rights reserved.
FAU - Czuchlewski, David R
AU  - Czuchlewski DR
AD  - Department of Pathology, University of New Mexico, Albuquerque, NM, USA. 
      dczuchlewski@salud.unm.edu
FAU - Farzanmehr, Haleh
AU  - Farzanmehr H
FAU - Robinett, Sheldon
AU  - Robinett S
FAU - Haines, Skip
AU  - Haines S
FAU - Reichard, Kaaren K
AU  - Reichard KK
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 22
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics
MH  - *Translocation, Genetic
EDAT- 2011/12/06 06:00
MHDA- 2012/04/04 06:00
CRDT- 2011/12/06 06:00
PHST- 2011/06/22 00:00 [received]
PHST- 2011/10/14 00:00 [revised]
PHST- 2011/10/17 00:00 [accepted]
PHST- 2011/12/06 06:00 [entrez]
PHST- 2011/12/06 06:00 [pubmed]
PHST- 2012/04/04 06:00 [medline]
AID - S2210-7762(11)00299-7 [pii]
AID - 10.1016/j.cancergen.2011.10.006 [doi]
PST - ppublish
SO  - Cancer Genet. 2011 Oct;204(10):572-6. doi: 10.1016/j.cancergen.2011.10.006.