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

Genes Chromosomes Cancer. 2025 Feb;64(2):e70037. doi: 10.1002/gcc.70037.

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.

Keywords: B‐LL; FIP1L1::PDGFRA; FISH; RNA‐seq; imatinib; pediatric.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Humans
  • Imatinib Mesylate / therapeutic use
  • Oncogene Proteins, Fusion* / genetics
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma* / drug therapy
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / drug therapy
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • Receptor, Platelet-Derived Growth Factor alpha* / genetics
  • mRNA Cleavage and Polyadenylation Factors* / genetics

Substances

  • mRNA Cleavage and Polyadenylation Factors
  • Receptor, Platelet-Derived Growth Factor alpha
  • Oncogene Proteins, Fusion
  • Imatinib Mesylate
  • FIP1L1-PDGFRA fusion protein, human
  • FIP1L1 protein, human