A Cryptic BCR-PDGFRB Fusion Resulting in a Chronic Myeloid Neoplasm With Monocytosis and Eosinophilia: A Novel Finding With Treatment Implications

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  • 1 Departments of Leukemia,
  • 2 Hematopathology, and
  • 3 Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.
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RNA-seq was used to identify the partner gene and confirm the presence of a BCR-PDGFRB fusion. Identification of this fusion product resulted in successful treatment and long-term remission of this myeloid neoplasm. Based on our results, we suggest that despite current WHO recommendations, screening for PDGFRB rearrangement in cases of leukocytosis with eosinophilia and no other etiologic explanation is necessary, even if the karyotype is normal.

Submitted February 6, 2020; accepted for publication April 6, 2020.

Author contributions: Study concept and design: Jain, Bueso-Ramos, Loghavi. Patient treatment: Jain. Pathologic workup and case characterization: Tang, Wang, Khoury, Futreal, Bueso-Ramos, Medeiro, Patel. RNA-seq studies and data analysis: Futreal, Barkoh, Chen, Mao, Zhang. Manuscript preparation: All authors.

Disclosures: The authors have disclosed that they have not received any financial consideration from any person or organization to support the preparation, analysis, results, or discussion of this article

Correspondence: Sanam Loghavi, MD, Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, 0072, Houston, TX 77030. Email: sloghavi@mdanderson.org
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