A cryptic imatinib-sensitive G3BP1-PDGFRB rearrangement in a myeloid neoplasm with eosinophilia

Author:

Jan Max12,Grinshpun Daniel E.23,Villalba Julian A.1ORCID,Dal Cin Paola45,Sykes David B.46ORCID,Iafrate A. John14,Ebert Benjamin L.2347,Hobbs Gabriela S.48ORCID,Nardi Valentina14

Affiliation:

1. Department of Pathology, Massachusetts General Hospital, Boston, MA;

2. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA;

3. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA;

4. Harvard Medical School, Harvard University, Boston, MA;

5. Department of Pathology, Brigham and Women’s Hospital, Boston, MA;

6. Division of Hematology, Massachusetts General Hospital Cancer Center, Boston, MA;

7. Howard Hughes Medical Institute, Dana-Farber Cancer Institute, Boston, MA; and

8. Division of Hematology/Oncology, Massachusetts General Hospital, Boston, MA

Abstract

Key Points Targeted RNA sequencing detected a cryptic G3BP1-PDGFRB rearrangement in a myeloid neoplasm with eosinophilia and normal FISH studies. Consistent with the patient’s response to imatinib, we demonstrate this rearrangement is oncogenic and sensitive to TKI in cell culture.

Publisher

American Society of Hematology

Subject

Hematology

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