PMID- 27134074
OWN - NLM
STAT- MEDLINE
DCOM- 20170206
LR  - 20170206
IS  - 2210-7762 (Print)
VI  - 209
IP  - 5
DP  - 2016 May
TI  - BCR-JAK2 fusion in a myeloproliferative neoplasm with associated eosinophilia.
PG  - 223-8
LID - S2210-7762(16)30037-0 [pii]
LID - 10.1016/j.cancergen.2016.03.002 [doi]
AB  - Janus kinase 2 (JAK2) is located on chromosome 9 at band p24 and JAK2V617F is the 
      most common mutation in Philadelphia chromosome-negative myeloproliferative 
      neoplasms (Ph-MPN). However, rearrangement of JAK2 is a rare event. We report a 
      case of myeloproliferative neoplasm, unclassifiable (MPN-U) with BCR-JAK2 fusion 
      confirmed by molecular studies. Conventional chromosome analysis (CC) revealed 
      t(9;22)(p24;q11.2) and fluorescence in situ hybridization (FISH) showed a JAK2 
      gene rearrangement in 88% of interphase nuclei. The BCR-JAK2 fusion was confirmed 
      by multiplex reverse transcriptase polymerase chain reaction (RT-PCR) and 
      demonstrated two in-frame 5'BCR/3'JAK2 transcripts with BCR exon 1 juxtaposed to 
      JAK2 exon 15 and exon 17, respectively. Our results, together with literature 
      review, reveal BCR-JAK2 fusions as oncogenic genetic alterations that are 
      associated with myeloid or lymphoid neoplasms and are frequently characterized by 
      eosinophilia. Further, patients with BCR-JAK2 are candidates for JAK2 inhibitor 
      therapy. Given the distinct clinical and pathological characteristics, we believe 
      that hematological neoplasms harboring BCR-JAK2 should be included as an 
      additional distinct entity to the current WHO category of "myeloid and lymphoid 
      neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR", and 
      testing for a JAK2 fusion should be pursued in neoplasms with a karyotypic 9p24 
      abnormality.
CI  - Copyright (c) 2016 Elsevier Inc. All rights reserved.
FAU - He, Rong
AU  - He R
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address: 
      He.Rong@mayo.edu.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Rangan, Aruna
AU  - Rangan A
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Mai, Ming
AU  - Mai M
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Chen, Dong
AU  - Chen D
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Reichard, Kaaren K
AU  - Reichard KK
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Nelsen, Laura L
AU  - Nelsen LL
AD  - Department of Pathology, Maine General Hospital, Augusta, ME, USA.
FAU - Pardanani, Animesh
AU  - Pardanani A
AD  - Division of Hematology, Department of Internal Medicine, Mayo Clinic College of 
      Medicine, Rochester, MN, USA.
FAU - Hanson, Curtis A
AU  - Hanson CA
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
FAU - Viswanatha, David S
AU  - Viswanatha DS
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic College of Medicine, Rochester, MN, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160406
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
RN  - EC 2.7.11.1 (BCR protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins c-bcr)
SB  - IM
MH  - Adult
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Janus Kinase 2/*genetics
MH  - Karyotype
MH  - Multiplex Polymerase Chain Reaction
MH  - Myeloproliferative Disorders/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Proto-Oncogene Proteins c-bcr/*genetics
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - B-lymphoblastic leukemia/lymphoma
OT  - BCR-JAK2 fusion
OT  - JAK2
OT  - eosinophilia
OT  - myeloproliferative neoplasm
EDAT- 2016/05/03 06:00
MHDA- 2017/02/07 06:00
CRDT- 2016/05/03 06:00
PHST- 2016/02/24 00:00 [received]
PHST- 2016/03/22 00:00 [accepted]
PHST- 2016/05/03 06:00 [entrez]
PHST- 2016/05/03 06:00 [pubmed]
PHST- 2017/02/07 06:00 [medline]
AID - S2210-7762(16)30037-0 [pii]
AID - 10.1016/j.cancergen.2016.03.002 [doi]
PST - ppublish
SO  - Cancer Genet. 2016 May;209(5):223-8. doi: 10.1016/j.cancergen.2016.03.002. Epub 
      2016 Apr 6.