- Letter to Editor
- Open Access
Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm
- Vanessa Fiorini Furtado1Email authorView ORCID ID profile,
- Neeraj Y. Saini2,
- William Walsh2,
- Venu Bathini†2 and
- Patricia M. Miron†3
© The Author(s). 2018
- Received: 3 July 2018
- Accepted: 10 October 2018
- Published: 19 October 2018
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.
- Myeloproliferative neoplasm
- PDGFR mutation
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene . More than 30 fusion partners of PDGFRB gene have been reported . Although uncommon, they are important for diagnosis and treatment [3–8]. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.
A 76-year-old male presented with progressively worsening of dyspnea on exertion and complete blood count revealed macrocytic anemia (hemoglobin 8.3 mg/dl), monocytosis and lymphopenia. Etiology was not delineated at the time, but subsequently the patient became transfusion dependent. His bone marrow was consistent with myeloproliferative disease with hypercellularity and increased myeloid:erythroid ratio of 5:1 with a prominent granulocytic hyperplasia associated with eosinophilia (24%). Remarkably, peripheral blood (PB) eosinophil counts were normal. BCR-ABL rearrangement was not detected by fluorescence in situ hybridization (FISH) of PB.
Imatinib mesylate 200 mg daily was initiated. After 3 months of therapy, patient achieved complete hematological response and became transfusion independent. His dose of imatinib was tapered to 200 mg weekly in 1 year and patient has remained in hematological remission for more than 3 years. Although imatinib was originally designed as a specific inhibitor of the BCR-ABL tyrosine kinase, it has been shown to be effective toward PDGFRB-associated MPN [3, 4, 6, 7]. Prior study reported 10-year OS of 90% in patients with myeloid malignancies bearing PDGFRB fusion genes who were treated with imatinib . Furthermore, achievement of rapid and durable complete cytogenetic and molecular responses on doses lower than 400 mg, suggests that patients with PDGFRB rearrangements may be more sensitive to imatinib . Our case report highlights the exquisite sensitivity of PDGFR gene fusion rearrangement to imatinib in patients with myeloid malignancies and suggests lower weekly doses of imatinib can be considered in this patient group.
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