PMID- 37285821
OWN - NLM
STAT- MEDLINE
DCOM- 20230814
LR  - 20240131
IS  - 1421-9662 (Electronic)
IS  - 0001-5792 (Print)
IS  - 0001-5792 (Linking)
VI  - 146
IP  - 4
DP  - 2023
TI  - False-Negative Testing for FIP1L1::PDGFRA by Fluorescence in situ Hybridization 
      Is a Frequent Cause of Diagnostic Delay.
PG  - 316-321
LID - 10.1159/000528046 [doi]
AB  - The imatinib-sensitive fusion gene FIP1L1::PDGFRA is the most frequent molecular 
      abnormality identified in patients with eosinophilic myeloid neoplasms. Rapid 
      recognition of this mutation is essential given the poor prognosis of 
      PDGFRA-associated myeloid neoplasms prior to the availability of imatinib 
      therapy. We report a case of a patient in whom delayed diagnosis resulted in 
      cardiac transplantation for eosinophilic endomyocardial fibrosis. The delay in 
      diagnosis was due, in part, to a false-negative result in fluorescence in situ 
      hybridization (FISH) testing for FIP1L1::PDGFRA. To explore this further, we 
      examined our cohort of patients presenting with confirmed or suspected 
      eosinophilic myeloid neoplasms and found 8 additional patients with negative FISH 
      results despite a positive reverse-transcriptase polymerase chain reaction test 
      for FIP1L1::PDGFRA. More importantly, false-negative FISH results delayed the 
      median time to imatinib treatment by 257 days. These data emphasize the 
      importance of empiric imatinib therapy in patients with clinical features 
      suggestive of PDGFRA-associated disease.
CI  - (c) 2023 S. Karger AG, Basel.
FAU - Pongdee, Thanai
AU  - Pongdee T
AD  - Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
FAU - Berry, Alexis
AU  - Berry A
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Wetzler, Lauren
AU  - Wetzler L
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Sun, Xiaoping
AU  - Sun X
AD  - Department of Laboratory Medicine, Clinical Center, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Thumm, Lauren
AU  - Thumm L
AD  - Clinical Monitoring Research Program Directorate, Frederick National Laboratory 
      for Cancer Research, Frederick, Maryland, USA.
FAU - Yoon, Pryscilla
AU  - Yoon P
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Kuang, Fei Li
AU  - Kuang FL
AD  - Department of Medicine, Northwestern University Feinberg School of Medicine, 
      Chicago, Illinois, USA.
FAU - Makiya, Michelle
AU  - Makiya M
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Constantine, Gregory
AU  - Constantine G
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Khoury, Paneez
AU  - Khoury P
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Rheinbay, Esther
AU  - Rheinbay E
AD  - Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
AD  - Massachussetts General Hospital Cancer Center, Harvard Medical School, Boston, 
      Massachusetts, USA.
FAU - Lane, Andrew A
AU  - Lane AA
AD  - Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
AD  - Department of Medical Oncology, Dana-Farber Cancer Instittue, Harvard Medical 
      School, Boston, Massachusetts, USA.
FAU - Maric, Irina
AU  - Maric I
AD  - Department of Laboratory Medicine, Clinical Center, National Institutes of 
      Health, Bethesda, Maryland, USA.
FAU - Klion, Amy D
AU  - Klion AD
AD  - National Institute of Allergy and Infectious Diseases, National Institutes of 
      Health, Bethesda, Maryland, USA.
LA  - eng
GR  - 75N91019D00024/CA/NCI NIH HHS/United States
GR  - HHSN261201500003C/CA/NCI NIH HHS/United States
GR  - HHSN261201500003I/CA/NCI NIH HHS/United States
GR  - K23 AI171085/AI/NIAID NIH HHS/United States
PT  - Case Reports
DEP - 20230607
PL  - Switzerland
TA  - Acta Haematol
JT  - Acta haematologica
JID - 0141053
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - 0 (Piperazines)
RN  - 0 (Pyrimidines)
RN  - 0 (Benzamides)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Humans
MH  - Imatinib Mesylate/therapeutic use
MH  - Delayed Diagnosis
MH  - Piperazines/therapeutic use
MH  - Pyrimidines/therapeutic use
MH  - In Situ Hybridization, Fluorescence
MH  - Benzamides
MH  - Oncogene Proteins, Fusion/genetics
MH  - *Myeloproliferative Disorders/drug therapy
MH  - *Neoplasms/drug therapy
PMC - PMC10809802
MID - NIHMS1957554
OTO - NOTNLM
OT  - Clinical studies
OT  - Eosinophilia
OT  - Myeloproliferative disorders
COIS- Conflict of Interest Statement None of the authors report conflicts of interest.
EDAT- 2023/06/08 01:08
MHDA- 2023/08/14 06:42
PMCR- 2024/06/07
CRDT- 2023/06/07 18:23
PHST- 2022/05/04 00:00 [received]
PHST- 2022/11/04 00:00 [accepted]
PHST- 2024/06/07 00:00 [pmc-release]
PHST- 2023/08/14 06:42 [medline]
PHST- 2023/06/08 01:08 [pubmed]
PHST- 2023/06/07 18:23 [entrez]
AID - 000528046 [pii]
AID - 10.1159/000528046 [doi]
PST - ppublish
SO  - Acta Haematol. 2023;146(4):316-321. doi: 10.1159/000528046. Epub 2023 Jun 7.