PMID- 34285820
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210722
IS  - 2090-6560 (Print)
IS  - 2090-6579 (Electronic)
IS  - 2090-6579 (Linking)
VI  - 2021
DP  - 2021
TI  - A Case of Acute Eosinophilic Leukemia with a Novel PHF6 Mutation.
PG  - 5574766
LID - 10.1155/2021/5574766 [doi]
LID - 5574766
AB  - Acute eosinophilic leukemia (AEL) is a rare form of acute myeloid leukemia (AML) 
      that requires prompt exclusion of reactive etiologies of eosinophilia and 
      identification of an underlying acute myeloid neoplasm. Myeloid neoplasms with 
      prominent eosinophilia often have rearrangements in the platelet-derived growth 
      factor receptor alpha (PDGFRA) or beta (PDGFRB) or are associated with core-binding 
      factor AML. In this report, we describe a 35-year-old male presenting with chest 
      discomfort and altered mental status, found to have marked leukocytosis with 
      eosinophilic predominance and an elevated blast count. Bone marrow aspirate and 
      biopsy findings were morphologically consistent with AEL. Fluorescence in situ 
      hybridization (FISH) and standard karyotype analysis did not reveal any 
      abnormalities, and mutation analysis using next generation sequencing (NGS) 
      revealed a pathogenic mutation in PHF6. Cardiac work-up revealed findings 
      suggestive of eosinophilic myocarditis. High-dose glucocorticoid therapy was 
      initiated followed by standard intensive induction chemotherapy with cytarabine 
      and idarubicin. He experienced a rapid reduction in peripheral blood eosinophil 
      and blast count and was found to be in a complete remission at the time of his 
      postinduction bone marrow examination. He underwent allogeneic stem cell 
      transplantation with a matched sibling donor after consolidative high-dose 
      cytarabine and remains in remission at the time of this report, 6 months 
      following his initial diagnosis. The rarity of this condition has resulted in a 
      paucity of data to guide management. Additional studies are needed to better 
      characterize this entity and inform optimal management strategies to attain a 
      long-term sustained remission in these patients.
CI  - Copyright (c) 2021 J. J. Lipof et al.
FAU - Lipof, J J
AU  - Lipof JJ
AUID- ORCID: 0000-0001-5877-0022
AD  - Division of Hematology/Oncology, University of Rochester Medical Center, James P. 
      Wilmot Cancer Institute, Rochester, NY, USA.
FAU - Huselton, E J
AU  - Huselton EJ
AUID- ORCID: 0000-0003-3397-7435
AD  - Division of Hematology/Oncology, University of Rochester Medical Center, James P. 
      Wilmot Cancer Institute, Rochester, NY, USA.
FAU - Zent, C S
AU  - Zent CS
AD  - Division of Hematology/Oncology, University of Rochester Medical Center, James P. 
      Wilmot Cancer Institute, Rochester, NY, USA.
FAU - Evans, A
AU  - Evans A
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, USA.
FAU - Zhang, B
AU  - Zhang B
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, USA.
FAU - Rothberg, P G
AU  - Rothberg PG
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, USA.
FAU - Bennett, J M
AU  - Bennett JM
AD  - Division of Hematology/Oncology, University of Rochester Medical Center, James P. 
      Wilmot Cancer Institute, Rochester, NY, USA.
AD  - Department of Pathology and Laboratory Medicine, University of Rochester Medical 
      Center, Rochester, NY, USA.
LA  - eng
PT  - Case Reports
DEP - 20210703
PL  - United States
TA  - Case Rep Hematol
JT  - Case reports in hematology
JID - 101576456
PMC - PMC8275415
COIS- The authors have no conflicts of interest.
EDAT- 2021/07/22 06:00
MHDA- 2021/07/22 06:01
PMCR- 2021/07/03
CRDT- 2021/07/21 06:35
PHST- 2021/01/27 00:00 [received]
PHST- 2021/06/29 00:00 [accepted]
PHST- 2021/07/21 06:35 [entrez]
PHST- 2021/07/22 06:00 [pubmed]
PHST- 2021/07/22 06:01 [medline]
PHST- 2021/07/03 00:00 [pmc-release]
AID - 10.1155/2021/5574766 [doi]
PST - epublish
SO  - Case Rep Hematol. 2021 Jul 3;2021:5574766. doi: 10.1155/2021/5574766. eCollection 
      2021.