PMID- 36958463
OWN - NLM
STAT- MEDLINE
DCOM- 20230529
LR  - 20230530
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 136
DP  - 2023 Jun
TI  - Clinicopathologic characteristics, genetic features, and treatment options for 
      acute lymphoblastic leukemia with JAK2 rearrangement-A 10-case study and 
      literature review.
PG  - 1-15
LID - S0046-8177(23)00051-5 [pii]
LID - 10.1016/j.humpath.2023.03.002 [doi]
AB  - JAK2 rearrangement (JAK2-R) in acute lymphoblastic leukemia (ALL) is rare and 
      often categorized as B-ALL with BCR::ABL1-like features based on the World Health 
      Organization classification. We report 10 patients with JAK2-R ALL, 9 males and 1 
      female, with a median age 40.5 years. Eight patients presented with marked 
      leukocytosis (median WBC, 63 x 10 (9)/L) and hypercellular (>95%) bone marrow 
      with increased lymphoblasts (72%-95%). There was no evidence of bone marrow 
      fibrosis or hypereosinophilia. Immunophenotypic analysis showed 9 B-cell and 1 
      T-cell neoplasms. Using fluorescence in situ hybridization (FISH) and RNA 
      sequencing analysis, JAK2 partners were identified for 7 cases and included PCM1 
      (n = 4), ETV6 (n = 2) and BCR (n = 1). All patients received upfront 
      polychemotherapy. Additionally, 2 patients received ruxolitinib, 2 received 
      allogeneic stem cell transplant, and 1 received CAR-T therapy. The 1- and 3-year 
      overall survival rates were 55.6% and 22.2%, respectively. A literature review 
      identified 24 B-ALL and 4 T-ALL cases with JAK2-R reported, including 16 males, 6 
      females and 6 gender not stated. Many JAK2 partner-genes were reported with the 
      most common being PAX5 (n = 7), ETV6 (n = 5), BCR (n = 4) and PCM1 (n = 2). 
      Survival data on 13 reported cases showed 1- and 3-year overall survival rates of 
      41.7% and 41.7%, respectively. In summary, JAK2-R ALL occurs more often in adult 
      males, are mostly of B-cell lineage, and associated with an aggressive clinical 
      course. Absence of eosinophilia and bone marrow fibrosis and no evidence of 
      preexisting/concurrent JAK2-R myeloid neoplasms distinguish JAK2-R ALL from other 
      myeloid/lymphoid neoplasms with eosinophilia and JAK2-R.
CI  - Copyright (c) 2023 Elsevier Inc. All rights reserved.
FAU - Zhang, Ling
AU  - Zhang L
AD  - Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer 
      Center and Research Institute, Tampa, FL, 33612, USA. Electronic address: 
      ling.zhang@moffitt.org.
FAU - Shah, Bijal
AU  - Shah B
AD  - Department of Hematological Malignancy, H Lee Moffitt Cancer Center, Tampa, FL, 
      33612, USA.
FAU - Zhang, Yumeng
AU  - Zhang Y
AD  - Morsani College of Medicine, The University of South Florida and H. Lee Moffitt 
      Cancer Center and Research Institute, Tampa, FL, 33612, USA.
FAU - Tashkandi, Hammad
AU  - Tashkandi H
AD  - Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer 
      Center and Research Institute, Tampa, FL, 33612, USA.
FAU - Xiao, Wenbin
AU  - Xiao W
AD  - Department of Pathology, Memorial Sloane Kettering Cancer Center, New York, NY, 
      10065, USA.
FAU - Fernandez-Pol, Sebastian
AU  - Fernandez-Pol S
AD  - Department of Pathology, Stanford University, Palo Alto, CA, 94305, USA.
FAU - Vergara-Lluri, Maria
AU  - Vergara-Lluri M
AD  - Department of Pathology, Hematopathology Section, Keck School of Medicine of 
      University of Southern California, Los Angeles, CA, 90033, USA.
FAU - Hussaini, Mohammad
AU  - Hussaini M
AD  - Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer 
      Center and Research Institute, Tampa, FL, 33612, USA.
FAU - Song, Jinming
AU  - Song J
AD  - Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer 
      Center and Research Institute, Tampa, FL, 33612, USA.
FAU - Lancet, Jeffrey
AU  - Lancet J
AD  - Department of Hematological Malignancy, H Lee Moffitt Cancer Center, Tampa, FL, 
      33612, USA.
FAU - Moscinski, Lynn
AU  - Moscinski L
AD  - Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer 
      Center and Research Institute, Tampa, FL, 33612, USA.
FAU - Yun, Seongseok
AU  - Yun S
AD  - Department of Hematological Malignancy, H Lee Moffitt Cancer Center, Tampa, FL, 
      33612, USA.
FAU - Lu, Chuanyi M
AU  - Lu CM
AD  - Department of Laboratory Medicine, University of California San Francisco and San 
      Francisco VA Health Care System, San Francisco, CA, 94121, USA.
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX, 77030, USA.
FAU - Tang, Guilin
AU  - Tang G
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX, 77030, USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20230322
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
SB  - IM
MH  - Male
MH  - Humans
MH  - Female
MH  - *Primary Myelofibrosis
MH  - In Situ Hybridization, Fluorescence
MH  - Oncogene Proteins, Fusion/genetics
MH  - *Eosinophilia/pathology
MH  - *Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics/therapy
MH  - Janus Kinase 2/genetics
OTO - NOTNLM
OT  - Acute lymphoblastic leukemia
OT  - JAK2 rearrangement
OT  - Myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene 
      rearrangement
OT  - Ruxolitinib
OT  - Stem cell transplant
EDAT- 2023/03/24 06:00
MHDA- 2023/05/29 06:41
CRDT- 2023/03/23 20:29
PHST- 2023/01/13 00:00 [received]
PHST- 2023/02/28 00:00 [revised]
PHST- 2023/03/06 00:00 [accepted]
PHST- 2023/05/29 06:41 [medline]
PHST- 2023/03/24 06:00 [pubmed]
PHST- 2023/03/23 20:29 [entrez]
AID - S0046-8177(23)00051-5 [pii]
AID - 10.1016/j.humpath.2023.03.002 [doi]
PST - ppublish
SO  - Hum Pathol. 2023 Jun;136:1-15. doi: 10.1016/j.humpath.2023.03.002. Epub 2023 Mar 
      22.