PMID- 26300976
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150824
LR  - 20201001
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 8
DP  - 2015
TI  - Double inv(3)(q21q26.2) in acute myeloid leukemia is resulted from an acquired 
      copy neutral loss of heterozygosity of chromosome 3q and associated with disease 
      progression.
PG  - 68
LID - 10.1186/s13039-015-0171-2 [doi]
LID - 68
AB  - BACKGROUND: Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) 
      is a distinct clinicopathologic entity with a poor prognosis. However, double 
      inv(3)(q21q26.2) is extremely rare in AML. We report here 3 cases analyzed by 
      oligonucleotide microarray comparative genomic hybridization (aCGH) and single 
      nucleotide polymorphism (SNP). Clinicopathologic, cytogenetic and molecular 
      findings were correlated with clinical outcome to better understand the entity. 
      RESULTS: The study group included one man and two women at 56-74 years of age. 
      The AML arose from myelodysplastic syndrome in one patient and from chronic 
      myelomonocytic leukemia in another patient. Monosomy 7 was found as additional 
      cytogenetic finding in one patient. One patient had a single inv(3) in the 
      initial clone and acquired double inv(3) as part of clonal evolution. EVI1 
      (MECOM) rearrangement was confirmed using metaphase/interphase fluorescence in 
      situ hybridization (FISH). Microarray (aCGH + SNP) data analysis revealed that 
      the double inv(3) was a result of acquiring copy neutral loss of heterozygosity 
      of chromosome 3q: arr[hg19] 3q13.21q29(10,344,387-197,802,470)x2 hmz, 
      spanning ~ 94.3 Mb in size. Mutational profiling showed a PTPN11 mutation at a 
      low level (~10 %) in one patient and wild type FLT3 and RAS in all patients. No 
      patients achieved cytogenetic remission and all died with an overall survival 
      (OS) of 23, 12 and 5 months, respectively. CONCLUSIONS: Double inv(3) is a result 
      of acquired copy neutral loss of heterozygosity, a somatic repair event occurring 
      as a part of mitotic recombination of the partial chromosome 3q. The double 
      inv(3) in AML patients is highly associated with a rapid disease progression.
FAU - Gu, Jun
AU  - Gu J
AD  - Cytogenetic Technology Program, School of Health Professions, The University of 
      Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0002, Houston, TX 
      77030 USA.
FAU - Patel, Keyur P
AU  - Patel KP
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Bai, Bing
AU  - Bai B
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Liu, Ching-Hua
AU  - Liu CH
AD  - Cytogenetic Technology Program, School of Health Professions, The University of 
      Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0002, Houston, TX 
      77030 USA ; The Department of Hematopathology, The University of Texas, MD 
      Anderson Cancer Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Tang, Guilin
AU  - Tang G
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Kantarjian, Hagop M
AU  - Kantarjian HM
AD  - Department of Leukemia, The University of Texas, MD Anderson Cancer Center, 1515 
      Holcombe Blvd. Unit 0428, Houston, TX 77030 USA.
FAU - Tang, Zhenya
AU  - Tang Z
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Abraham, Ronald
AU  - Abraham R
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Luthra, Rajyalakshmi
AU  - Luthra R
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Lin, Pei
AU  - Lin P
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
FAU - Lu, Xinyan
AU  - Lu X
AD  - The Department of Hematopathology, The University of Texas, MD Anderson Cancer 
      Center, 1515 Holcombe Blvd. Unit 0149, Houston, TX 77030 USA.
LA  - eng
GR  - P30 CA016672/CA/NCI NIH HHS/United States
PT  - Journal Article
DEP - 20150819
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4545786
EDAT- 2015/08/25 06:00
MHDA- 2015/08/25 06:01
PMCR- 2015/08/19
CRDT- 2015/08/25 06:00
PHST- 2015/05/06 00:00 [received]
PHST- 2015/08/04 00:00 [accepted]
PHST- 2015/08/25 06:00 [entrez]
PHST- 2015/08/25 06:00 [pubmed]
PHST- 2015/08/25 06:01 [medline]
PHST- 2015/08/19 00:00 [pmc-release]
AID - 171 [pii]
AID - 10.1186/s13039-015-0171-2 [doi]
PST - epublish
SO  - Mol Cytogenet. 2015 Aug 19;8:68. doi: 10.1186/s13039-015-0171-2. eCollection 
      2015.