PMID- 32442889
OWN - NLM
STAT- MEDLINE
DCOM- 20201231
LR  - 20201231
IS  - 2210-7762 (Print)
VI  - 244
DP  - 2020 Jun
TI  - Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by 
      next-generation sequencing.
PG  - 55-59
LID - S2210-7762(20)30152-6 [pii]
LID - 10.1016/j.cancergen.2020.03.002 [doi]
AB  - Rearrangements of PDGFRB are defining cytogenetic abnormalities seen in 
      "Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB" and 
      are generally evident by common cytogenetic methods. Here we present an unique 
      case in which karyotyping and fluorescence in situ hybridization (FISH) analysis 
      were negative, and the PDGFRB rearrangement was detected by next-generation 
      sequencing (NGS) analysis. The patient presented with approximately one-year 
      history of leukocytosis including neutrophilia, eosinophilia, basophilia and 
      granulocytic left shift. Bone marrow biopsy revealed a hypercellular marrow with 
      panmyelosis, eosinophilia and mast cell hyperplasia. Blasts were not increased. 
      Ancillary studies revealed a normal karyotype and absence of BCR-ABL1 fusion 
      gene. NGS identified AFAP1L1-PDGFRB fusion, which was confirmed by polymerase 
      chain reaction amplification followed by direct Sanger sequencing. The patient 
      was treated with imatinib and showed normalization of peripheral blood 
      leukocytosis, which lasted for at least six months. This case highlights that 
      cytogenetics/FISH study alone may be insufficient to detect all PDGFRB 
      rearrangement, which is critical for the patient's management. We suggest that 
      molecular analysis capable of detecting fusion genes should be performed in all 
      similar cases.
CI  - Copyright (c) 2020. Published by Elsevier Inc.
FAU - Zimmermann, Nives
AU  - Zimmermann N
AD  - Division of Hematopathology, Department of Pathology and Laboratory Medicine, 
      Indiana University School of Medicine, 350 W 11(th) St, Indianapolis, IN 46202, 
      USA; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical 
      Center, 3333 Burnet Ave, and Department of Pediatrics, University of Cincinnati 
      College of Medicine, Cincinnati, Ohio 45229, USA. Electronic address: 
      nives.zimmermann@UC.edu.
FAU - Nassiri, Mehdi
AU  - Nassiri M
AD  - Division of Hematopathology, Department of Pathology and Laboratory Medicine, 
      Indiana University School of Medicine, 350 W 11(th) St, Indianapolis, IN 46202, 
      USA. Electronic address: mnassiri@iupui.edu.
FAU - Zhou, Jiehao
AU  - Zhou J
AD  - Division of Hematopathology, Department of Pathology and Laboratory Medicine, 
      Indiana University School of Medicine, 350 W 11(th) St, Indianapolis, IN 46202, 
      USA. Electronic address: zhouji@iupui.edu.
FAU - Miller, Adam M
AU  - Miller AM
AD  - Division of Hematopathology, Department of Pathology and Laboratory Medicine, 
      Indiana University School of Medicine, 350 W 11(th) St, Indianapolis, IN 46202, 
      USA. Electronic address: admmill@iupui.edu.
FAU - Zhang, Shanxiang
AU  - Zhang S
AD  - Division of Hematopathology, Department of Pathology and Laboratory Medicine, 
      Indiana University School of Medicine, 350 W 11(th) St, Indianapolis, IN 46202, 
      USA. Electronic address: sz5@iupui.edu.
LA  - eng
PT  - Case Reports
DEP - 20200503
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Antineoplastic Agents)
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  - Aged
MH  - Antineoplastic Agents/therapeutic use
MH  - *Gene Rearrangement
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Imatinib Mesylate/therapeutic use
MH  - Male
MH  - Myeloproliferative Disorders/drug therapy/genetics/*pathology
MH  - Prognosis
MH  - Receptor, Platelet-Derived Growth Factor beta/*genetics
OTO - NOTNLM
OT  - Cryptic rearrangement
OT  - Eosinophilia
OT  - Myeloproliferative neoplasm
OT  - Next-generation sequencing
OT  - PDGFRB rearrangement
EDAT- 2020/05/23 06:00
MHDA- 2021/01/01 06:00
CRDT- 2020/05/23 06:00
PHST- 2019/06/19 00:00 [received]
PHST- 2020/03/16 00:00 [revised]
PHST- 2020/03/28 00:00 [accepted]
PHST- 2020/05/23 06:00 [pubmed]
PHST- 2021/01/01 06:00 [medline]
PHST- 2020/05/23 06:00 [entrez]
AID - S2210-7762(20)30152-6 [pii]
AID - 10.1016/j.cancergen.2020.03.002 [doi]
PST - ppublish
SO  - Cancer Genet. 2020 Jun;244:55-59. doi: 10.1016/j.cancergen.2020.03.002. Epub 2020 
      May 3.