PMID- 38137010
OWN - NLM
STAT- MEDLINE
DCOM- 20231225
LR  - 20231225
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 12
DP  - 2023 Dec 8
TI  - Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from 
      Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review.
LID - 10.3390/genes14122188 [doi]
LID - 2188
AB  - We report a case of myeloproliferative neoplasm, not otherwise specified 
      (MPN-NOS)-transformed AML with BCR::JAK2 rearrangement. Chromosomal analysis 
      indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). 
      Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set 
      suggested a possible BCR rearrangement and a reflex JAK2 breakapart probe 
      indicated JAK2 rearrangement, most likely partnered with BCR. Optical genome 
      mapping (OGM) analysis confirmed BCR::JAK2 derived through an inv(9)(p24p13) 
      after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal 
      aberrations, disruption and/or rearrangement of other genes such as KIF24::BCR, 
      JAK2::KIF24/UBAP1, and CDK6:SOX9 were also identified by OGM. Although the 
      functionality and clinical importance of these novel rearrangements were unknown, 
      disruption of these genes might be associated with a poorer response to 
      chemotherapy and disease progression. We also reviewed all cases with BCR::JAK2 
      rearrangement reported in the literature. In conclusion, a suspected 
      t(9;22)/BCR::JAK2 rearrangement warrants further characterization with genomic 
      assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore 
      other gene disruptions and/or rearrangements.
FAU - Vanjari, Neelam
AU  - Vanjari N
AD  - School of Health Professions, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Tang, Guilin
AU  - Tang G
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Toruner, Gokce A
AU  - Toruner GA
AUID- ORCID: 0000-0002-5305-6337
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Wang, Wei
AU  - Wang W
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Thakral, Beenu
AU  - Thakral B
AUID- ORCID: 0000-0001-5140-3633
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Zhao, Ming
AU  - Zhao M
AD  - School of Health Professions, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Dave, Bhavana J
AU  - Dave BJ
AD  - Department of Pathology, Microbiology and Immunology, University of Nebraska 
      Medical Center, Omaha, NE 68198, USA.
FAU - Khoury, Joseph D
AU  - Khoury JD
AUID- ORCID: 0000-0003-2621-3584
AD  - Department of Pathology, Microbiology and Immunology, University of Nebraska 
      Medical Center, Omaha, NE 68198, USA.
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
AUID- ORCID: 0000-0001-6577-8006
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
FAU - Tang, Zhenya
AU  - Tang Z
AUID- ORCID: 0000-0002-8079-9945
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77015, USA.
AD  - Department of Pathology, Microbiology and Immunology, University of Nebraska 
      Medical Center, Omaha, NE 68198, USA.
LA  - eng
PT  - Case Reports
PT  - Review
DEP - 20231208
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
SB  - IM
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Chromosome Aberrations
MH  - *Myeloproliferative Disorders/genetics
MH  - Disease Progression
MH  - Chromosome Mapping
MH  - Janus Kinase 2/genetics
PMC - PMC10742890
OTO - NOTNLM
OT  - BCR::JAK2 rearrangement
OT  - complex chromosomal aberrations
OT  - fluorescence in situ hybridization (FISH)
OT  - myeloproliferative neoplasm (MPN)
OT  - optical genome mapping (OGM)
COIS- The authors declare no conflict of interest.
EDAT- 2023/12/23 12:43
MHDA- 2023/12/25 06:42
PMCR- 2023/12/08
CRDT- 2023/12/23 01:07
PHST- 2023/11/17 00:00 [received]
PHST- 2023/11/28 00:00 [revised]
PHST- 2023/12/02 00:00 [accepted]
PHST- 2023/12/25 06:42 [medline]
PHST- 2023/12/23 12:43 [pubmed]
PHST- 2023/12/23 01:07 [entrez]
PHST- 2023/12/08 00:00 [pmc-release]
AID - genes14122188 [pii]
AID - genes-14-02188 [pii]
AID - 10.3390/genes14122188 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Dec 8;14(12):2188. doi: 10.3390/genes14122188.