PMID- 31824864
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 9
DP  - 2019
TI  - Myeloid/Lymphoid Neoplasm With FGFR1 Rearrangement Accompanying RUNX1 and NOTCH1 
      Gene Mutations.
PG  - 1304
LID - 10.3389/fonc.2019.01304 [doi]
LID - 1304
AB  - Background: Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement is a rare kind of 
      hematological malignant disease. Case presentation: A 37-year-old male patient 
      experienced three distinct disease stages from myeloproliferative neoplasm (MPN), 
      T-cell lymphoblastic lymphoma (T-LBL) to a much more complexed phage of a mixed 
      phenotype acute leukemia (MPAL). Both genetic and genomic alternations were 
      detected including chromosomal abnormality and genic mutations. Result: 
      Karyotyping and fluorescence in situ hybridization (FISH) analysis of either bone 
      marrow or lymph node sample confirmed the presence of the FGFR1 rearrangement. 
      Amplifications of RUNX1, ERG, and U2AF1 genes were identified by next generation 
      sequencing. Furthermore, a frame-shift variant of F330fs(*)>149 in the RUNX1 gene 
      and a missense mutation of R2263Q in NOTCH1 were also detected. Conclusion: The 
      FGFR1 rearrangement functions as a trigging oncogenic event. Then other genetic 
      events such as RUNX1 and/or NOTCH1 alternations further lead to progression of 
      disease with trilineage blasts assignment.
CI  - Copyright (c) 2019 Wang, Huang, Pang, Xiao, Gu, Zhang, Wang, Zhang and Yan.
FAU - Wang, Xiaoxue
AU  - Wang X
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK, United States.
FAU - Huang, Xinyue
AU  - Huang X
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
FAU - Pang, Hui
AU  - Pang H
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK, United States.
FAU - Xiao, Sheng
AU  - Xiao S
AD  - Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 
      Boston, MA, United States.
FAU - Gu, Hongcang
AU  - Gu H
AD  - Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma 
      City, OK, United States.
AD  - Broad Institute of MIT and Harvard, Cambridge, MA, United States.
FAU - Zhang, Heyang
AU  - Zhang H
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
FAU - Wang, Baixun
AU  - Wang B
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
FAU - Zhang, Lijun
AU  - Zhang L
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
FAU - Yan, Xiaojing
AU  - Yan X
AD  - Department of Hematology, The First Hospital of China Medical University, 
      Shenyang, Liaoning, China.
LA  - eng
PT  - Case Reports
DEP - 20191122
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC6883488
OTO - NOTNLM
OT  - FGFR1
OT  - MPAL
OT  - MPN
OT  - Notch
OT  - Runx1
EDAT- 2019/12/12 06:00
MHDA- 2019/12/12 06:01
PMCR- 2019/01/01
CRDT- 2019/12/12 06:00
PHST- 2019/08/23 00:00 [received]
PHST- 2019/11/11 00:00 [accepted]
PHST- 2019/12/12 06:00 [entrez]
PHST- 2019/12/12 06:00 [pubmed]
PHST- 2019/12/12 06:01 [medline]
PHST- 2019/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2019.01304 [doi]
PST - epublish
SO  - Front Oncol. 2019 Nov 22;9:1304. doi: 10.3389/fonc.2019.01304. eCollection 2019.