PMID- 28186604
OWN - NLM
STAT- MEDLINE
DCOM- 20170629
LR  - 20171116
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 1
DP  - 2017 Feb 10
TI  - [Clinical and genetic features of a patient with myeloid neoplasm in association 
      with PDGFRA and EVI1 gene rearrangements].
PG  - 93-97
LID - 10.3760/cma.j.issn.1003-9406.2017.01.022 [doi]
AB  - OBJECTIVE: Todelineate the clinical and genetic features of a patient with 
      myeloproliferative neoplasm (MPN) in association with PDGFRA and EVI1 genes 
      rearrangements. METHODS: Clinical data of the patient was collected. Conventional 
      cytogenetics, fluorescence in situ hybridization (FISH) and nested PCR were 
      carried out for the patient. RESULTS: The patient has featured recurrent rash, 
      joint pain, and intermittent fever. Laboratory tests showed hyperleukocytosis and 
      marked eosinophilia. Physical examination revealed splenomegaly. His karyotype 
      was 46,XY,t(3;5)(q26;q15)[6]/46,XY[10]. FISH assay showed that both PDGFRA and 
      EVI1 genes were rearranged. Molecular studies of the mRNA suggested that there 
      was a in-frame fusion between exon 12 of the PDGFRA gene and exon 9 of the FIP1L1 
      gene. Imatinib was initiated at a dosage of 200 mg, and after 10 months, the 
      signal of the FIP1L1-PDGFRA fusion gene was undetectable in bone marrow sample. 
      However, the expression of EVI1 mRNA was stable, with no significant difference 
      found between the patient and 10 healthy controls. CONCLUSION: MPN in association 
      with PDGFRA and EVI1 genes rearrangements have unique clinical and genetic 
      features. Genetic testing is helpful for early diagnosis. Imatinib may be 
      effective for the treatment.
FAU - Han, Wenmin
AU  - Han W
AD  - Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical 
      University, Changzhou, Jiangsu 213003, China. chaohy2006@126.com.
FAU - Chao, Hongying
AU  - Chao H
FAU - Zhou, Min
AU  - Zhou M
FAU - Cen, Ling
AU  - Cen L
FAU - Chen, Suning
AU  - Chen S
FAU - He, Xuefeng
AU  - He X
FAU - Lu, Xuzhang
AU  - Lu X
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (Antineoplastic Agents)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (MDS1 and EVI1 Complex Locus Protein)
RN  - 0 (MECOM protein, human)
RN  - 0 (Transcription Factors)
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor alpha)
SB  - IM
MH  - Antineoplastic Agents/therapeutic use
MH  - Base Sequence
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Chromosomes, Human, Pair 5/genetics
MH  - DNA-Binding Proteins/*genetics
MH  - *Gene Rearrangement
MH  - Humans
MH  - Imatinib Mesylate/therapeutic use
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - MDS1 and EVI1 Complex Locus Protein
MH  - Male
MH  - Myeloproliferative Disorders/drug therapy/*genetics
MH  - Proto-Oncogenes/*genetics
MH  - Receptor, Platelet-Derived Growth Factor alpha/*genetics
MH  - Transcription Factors/*genetics
MH  - Translocation, Genetic
MH  - Treatment Outcome
MH  - Young Adult
EDAT- 2017/02/12 06:00
MHDA- 2017/07/01 06:00
CRDT- 2017/02/11 06:00
PHST- 2017/02/11 06:00 [entrez]
PHST- 2017/02/12 06:00 [pubmed]
PHST- 2017/07/01 06:00 [medline]
AID - 940634022 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.01.022 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):93-97. doi: 
      10.3760/cma.j.issn.1003-9406.2017.01.022.