PMID- 35340014
OWN - NLM
STAT- MEDLINE
DCOM- 20220923
LR  - 20230106
IS  - 1421-9662 (Electronic)
IS  - 0001-5792 (Print)
IS  - 0001-5792 (Linking)
VI  - 145
IP  - 5
DP  - 2022
TI  - Myeloid Neoplasm with PCM1-PDGFRB Transcript Responded to Low-Dose Imatinib: One 
      Case Report with Literature Review.
PG  - 560-565
LID - 10.1159/000524275 [doi]
AB  - Through an RNA-seq analysis of an adult patient with unclassifiable 
      myelodysplastic/myeloproliferative neoplasms (MDS/MPN-U), we identified a rare 
      PDGFRB fusion partner gene, PCM1. Conventional chromosome karyotype analysis 
      showed abnormal clones of t(5;8)(q32;p22), and fluorescence in situ hybridization 
      (FISH) confirmed rearrangement of the PDGFRB gene. Reverse transcription PCR 
      (RT-PCR) and Sanger sequencing further confirmed that exon 30 of the PCM1 gene 
      was fused with exon 11 of PDGFRB in frame, and the fusion event was accompanied 
      by a 14 bp deletion of exon 11 of PDGFRB. After low-dose imatinib treatment, the 
      patient achieved complete molecular remission. This study not only broadens the 
      understanding of myeloid/lymphoid neoplasms with PDGFRB rearrangement but also 
      reflects the vital role of RNA-seq in identifying PDGFRB rearrangements.
CI  - (c) 2022 The Author(s). Published by S. Karger AG, Basel.
FAU - Wang, Zhe
AU  - Wang Z
AD  - Department of Leukemia, State Key Laboratory of Experimental Hematology, National 
      Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, 
      Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical 
      Sciences & Peking Union Medical College, Tianjin, China, wangzheqy@126.com.
FAU - Wan, Li
AU  - Wan L
AD  - Molecular Biology Laboratory, State Key Laboratory of Experimental Hematology, 
      National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell 
      Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of 
      Medical Sciences & Peking Union Medical College, Tianjin, China.
FAU - Lin, Dong
AU  - Lin D
AD  - Department of Leukemia, State Key Laboratory of Experimental Hematology, National 
      Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, 
      Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical 
      Sciences & Peking Union Medical College, Tianjin, China.
FAU - Li, Cheng-Wen
AU  - Li CW
AD  - Cytogenetic Laboratory, State Key Laboratory of Experimental Hematology, National 
      Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, 
      Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical 
      Sciences & Peking Union Medical College, Tianjin, China.
FAU - Tian, Zheng
AU  - Tian Z
AD  - Department of Leukemia, State Key Laboratory of Experimental Hematology, National 
      Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, 
      Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical 
      Sciences & Peking Union Medical College, Tianjin, China.
FAU - Mi, Ying-Chang
AU  - Mi YC
AD  - Department of Leukemia, State Key Laboratory of Experimental Hematology, National 
      Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, 
      Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical 
      Sciences & Peking Union Medical College, Tianjin, China.
LA  - eng
PT  - Case Reports
PT  - Review
DEP - 20220325
PL  - Switzerland
TA  - Acta Haematol
JT  - Acta haematologica
JID - 0141053
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - EC 2.7.10.1 (PDGFRB protein, human)
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor beta)
SB  - IM
MH  - Humans
MH  - Imatinib Mesylate/therapeutic use
MH  - In Situ Hybridization, Fluorescence
MH  - *Myeloproliferative Disorders/drug therapy
MH  - *Neoplasms/drug therapy
MH  - Oncogene Proteins, Fusion/genetics
MH  - Receptor, Platelet-Derived Growth Factor beta/genetics
MH  - Translocation, Genetic
PMC - PMC9808690
OTO - NOTNLM
OT  - Eosinophilia
OT  - Myeloid/lymphoid neoplasms
OT  - Pericentriolar material 1
OT  - Platelet-derived growth factor receptor beta rearrangement
OT  - RNA-seq
COIS- The authors report no conflict of interest.
EDAT- 2022/03/28 06:00
MHDA- 2022/09/24 06:00
PMCR- 2022/03/25
CRDT- 2022/03/27 20:28
PHST- 2022/01/25 00:00 [received]
PHST- 2022/03/12 00:00 [accepted]
PHST- 2022/03/28 06:00 [pubmed]
PHST- 2022/09/24 06:00 [medline]
PHST- 2022/03/27 20:28 [entrez]
PHST- 2022/03/25 00:00 [pmc-release]
AID - 000524275 [pii]
AID - aha-0145-0560 [pii]
AID - 10.1159/000524275 [doi]
PST - ppublish
SO  - Acta Haematol. 2022;145(5):560-565. doi: 10.1159/000524275. Epub 2022 Mar 25.