PMID- 26203356
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150723
LR  - 20200930
IS  - 2050-7771 (Print)
IS  - 2050-7771 (Electronic)
IS  - 2050-7771 (Linking)
VI  - 3
DP  - 2015
TI  - A case of B-cell acute lymphoblastic leukemia in a child with Down syndrome 
      bearing a t(2;12)(p12;p13) involving ETV6 and biallelic IGH@ rearrangements.
PG  - 11
LID - 10.1186/s40364-015-0036-1 [doi]
LID - 11
AB  - BACKGROUND: Rearrangements involving ETV6 (12p13) are among the most common 
      structural abnormalities in pediatric B-cell acute lymphoblastic leukemia (B-ALL) 
      and involve numerous partner genes. Additionally, the t(8;14)(q11.2;q32), which 
      can result in the placement of CEBPD (8q11.2) near the regulatory regions of IGH@ 
      (14q32) and consequent overexpression of CEPBD, occurs at a higher frequency in 
      individuals with Down syndrome-associated ALL (DS-ALL) compared to both the 
      general and pediatric population. The coexistence of cytogenetically detectable 
      ETV6 abnormalities and t(8;14)(q11.2;q32) is a rare occurrence in B-ALL and has 
      only been reported in a single case in the literature. FINDINGS: Herein, we 
      present a case of B-ALL in a 9-year old male with Down syndrome in which 
      conventional cytogenetic analysis revealed two reciprocal translocations: a 
      t(8;14)(q11.2;q32) and a t(2;12)(p12;p13). Interphase and metaphase fluorescence 
      in situ hybridization (FISH) analysis using break apart probes confirmed the 
      involvement of IGH@ and ETV6 in these translocations, respectively. Additionally, 
      interphase FISH revealed a clonal subpopulation bearing biallelic IGH@ 
      rearrangements not observed by conventional cytogenetic analysis. CONCLUSIONS: To 
      the best of our knowledge, this is the first reported case of B-ALL bearing an 
      ETV6 translocation with a partner gene on the short arm of chromosome 2 confirmed 
      by FISH. Additionally, it is the second reported case of t(8;14)(q11.2;q32)-ALL 
      bearing a concomitant, cytogenetically detectable abnormality involving ETV6. 
      This case provides insight into a novel translocation involving ETV6 as well as 
      potentially unique and understudied mechanisms of clonal evolution in pediatric 
      B-ALL.
FAU - Tirado, Carlos A
AU  - Tirado CA
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Shabsovich, David
AU  - Shabsovich D
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Kim, Yeun
AU  - Kim Y
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Traum, Peter
AU  - Traum P
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Pullarkat, Sheeja
AU  - Pullarkat S
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Kallen, Michael
AU  - Kallen M
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
FAU - Rao, Nagesh
AU  - Rao N
AD  - Department of Pathology and Laboratory Medicine, David Geffen School of Medicine 
      at UCLA, Los Angeles, CA USA.
LA  - eng
PT  - Case Reports
DEP - 20150605
PL  - England
TA  - Biomark Res
JT  - Biomarker research
JID - 101607860
EIN - Biomark Res. 2015;3:27. PMID: 26535130
PMC - PMC4509750
OTO - NOTNLM
OT  - B-ALL
OT  - Cytogenetics
OT  - ETV6
OT  - FISH
EDAT- 2015/07/24 06:00
MHDA- 2015/07/24 06:01
PMCR- 2015/06/05
CRDT- 2015/07/24 06:00
PHST- 2015/04/17 00:00 [received]
PHST- 2015/05/26 00:00 [accepted]
PHST- 2015/07/24 06:00 [entrez]
PHST- 2015/07/24 06:00 [pubmed]
PHST- 2015/07/24 06:01 [medline]
PHST- 2015/06/05 00:00 [pmc-release]
AID - 36 [pii]
AID - 10.1186/s40364-015-0036-1 [doi]
PST - epublish
SO  - Biomark Res. 2015 Jun 5;3:11. doi: 10.1186/s40364-015-0036-1. eCollection 2015.