PMID- 20513535
OWN - NLM
STAT- MEDLINE
DCOM- 20100617
LR  - 20131121
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 200
IP  - 1
DP  - 2010 Jul 1
TI  - Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant 
      t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and 
      literature review.
PG  - 54-9
LID - 10.1016/j.cancergencyto.2010.03.001 [doi]
AB  - Coexistence of inv(16) and t(9;22) is a rare chromosomal aberration, one that has 
      been described in chronic myelogenous leukemia (CML), mainly in myeloid blast 
      crisis, and de novo acute myeloid leukemia (AML). Approximately 14 cases have 
      been reported, including only 1 pediatric case. Here we present the case of a 
      13-year-old boy with a new diagnosis of AML with some features of monocytic 
      differentiation. Conventional cytogenetic analyses on unstimulated blood showed 
      three related abnormal clones with inv(16) in the stemline: 
      46,XY,inv(16)(p13.1q22)[2]/46,idem,del(7)(q22q32)[16]/46,idem,t(9;22;19)(q34;q11.2;p13.1)[2]. 
      Fluorescence in situ hybridization (FISH) studies on interphase nuclei and 
      previously G-banded metaphases showed a 3'CBFB deletion and confirmed the 
      presence of the Philadelphia chromosome in a t(9;22;19) rearrangement. Deletion 
      7q31 was also confirmed by interphase FISH analysis. The patient was treated with 
      standard AML chemotherapy plus gemtuzumab as part of a clinical trial. At 
      10-months follow-up, he was in remission. To the best of our knowledge, this is 
      the first description of a pediatric case of de novo AML with a stemline showing 
      inv(16) along with 3'CBFB deletion, an abnormal clone revealing in addition a 
      del(7)(q22q32), and another clone with a t(9;22;19)(q34;q11.2;p13.1) as an 
      additional abnormality.
CI  - 2010 Elsevier Inc. All rights reserved.
FAU - Tirado, Carlos A
AU  - Tirado CA
AD  - Department of Pathology, The University of Texas Southwestern Medical Center at 
      Dallas, 75390-9073, USA. carlos1.tirado@utsouthwestern.edu 
      <carlos1.tirado@utsouthwestern.edu>
FAU - Valdez, Federico
AU  - Valdez F
FAU - Klesse, Laura
AU  - Klesse L
FAU - Karandikar, Nitin J
AU  - Karandikar NJ
FAU - Uddin, Naseem
AU  - Uddin N
FAU - Arbini, Arnaldo
AU  - Arbini A
FAU - Fustino, Nicholas
AU  - Fustino N
FAU - Collins, Robert
AU  - Collins R
FAU - Patel, Sangeeta
AU  - Patel S
FAU - Smart, Ruth L
AU  - Smart RL
FAU - Garcia, Rolando
AU  - Garcia R
FAU - Doolittle, Jeff
AU  - Doolittle J
FAU - Chen, Weina
AU  - Chen W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (CBFbeta-MYH11 fusion protein)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Adolescent
MH  - *Chromosome Deletion
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 16
MH  - *Chromosomes, Human, Pair 22
MH  - *Chromosomes, Human, Pair 7
MH  - *Chromosomes, Human, Pair 9
MH  - Flow Cytometry
MH  - Fusion Proteins, bcr-abl/*genetics
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics/pathology
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - *Translocation, Genetic
RF  - 16
EDAT- 2010/06/02 06:00
MHDA- 2010/06/18 06:00
CRDT- 2010/06/02 06:00
PHST- 2009/09/08 00:00 [received]
PHST- 2010/02/12 00:00 [revised]
PHST- 2010/03/03 00:00 [accepted]
PHST- 2010/06/02 06:00 [entrez]
PHST- 2010/06/02 06:00 [pubmed]
PHST- 2010/06/18 06:00 [medline]
AID - S0165-4608(10)00113-5 [pii]
AID - 10.1016/j.cancergencyto.2010.03.001 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 Jul 1;200(1):54-9. doi: 
      10.1016/j.cancergencyto.2010.03.001.