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FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia

Year: 2025

Type: article

Abstract: Approximately 10% of Ph-Like patients have ABL class gene fusions, which include the FIP1L1::PDGFRA rearrangement. We report a case of a pediatric patient with Ph-like B-lymphoblastic leukemia (B-LL) with a FIP1L1::PDGFRA fusion and their treatment course using a combination of chemotherapy and targeted therapy with imatinib. A 10-year-old female presented with lethargy, palpitations, and fevers. She had pancytopenia, no eosinophilia, and flow cytometry consistent with B-LL. FISH identified a CHIC2 deletion, suggestive of FIP1L1::PDGFRA fusion, confirmed on next-generation RNA sequencing. The patient commenced targeted therapy with imatinib, which she continued until completion of standard chemotherapy per COG AALL1732. She remains in remission 6 months post-completion of therapy. B-ALL with a FIP1L1::PDGFRA fusion is extremely rare, particularly in pediatrics. FIP1L1::PDGFRA rearrangements can be difficult to detect on routine testing and may not always be seen in association with eosinophilia. Identification of FIP1L1::PDGFRA rearrangements is important as they enable treatment with a tyrosine kinase inhibitor, which has significantly improved the overall prognosis for PDGFRA-rearranged neoplasms. Prospective studies assessing imatinib dosage, duration, and long-term safety are warranted in this cohort.

Source: Genes Chromosomes and Cancer

DOI: 10.1002/gcc.70037

Authors: Jenna Nunn, Bronwyn Williams, David Deambrosis

Institutions: Griffith University, The University of Queensland, Children's Health Queensland Hospital and Health Service

Language: English

Topic: Acute Lymphoblastic Leukemia research

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,810