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[Primary myelofibrosis with double mutation in U2AF1].

Keiko Maeyama1,2, Keiki Nagaharu1,2, Kazuko Ino1

  • 1Department of Hematology and Oncology, Mie University.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|February 4, 2024
PubMed
Summary

This case study shows a patient with triple-negative primary myelofibrosis and a U2AF1 mutation achieved a favorable outcome after allogeneic stem cell transplantation, emphasizing the importance of genetic analysis.

Keywords:
Myeloproliferative neoplasmPrimary myelofibrosisU2AF1 mutation

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Primary myelofibrosis (MF) is a myeloproliferative neoplasm characterized by bone marrow fibrosis.
  • Genetic mutations, including JAK2, CALR, and MPL, are common drivers, but a subset of patients are triple-negative.
  • U2AF1 mutations are associated with poor prognosis in MF.

Observation:

  • A 47-year-old woman with subcutaneous hemorrhage, leukoerythroblastosis, anemia, and thrombocytopenia was diagnosed with intermediate-II risk primary myelofibrosis.
  • Peripheral blood tests were negative for JAK2, CALR, and MPL mutations.
  • Bone marrow sequencing revealed a U2AF1 double mutation (Q157R, S34F).

Findings:

  • The patient underwent allogeneic peripheral blood stem cell transplantation (Allo-PBSCT) with an HLA-matched related donor.
  • Post-transplantation bone marrow examination confirmed complete donor chimerism by day 55.
  • The patient remained relapse-free two years after transplantation.

Implications:

  • This case demonstrates a favorable long-term prognosis in a U2AF1-mutated primary myelofibrosis patient treated with timely Allo-PBSCT.
  • Highlights the critical role of comprehensive gene mutation analysis, including U2AF1, in triple-negative MF for accurate prognostication and treatment planning.
  • Suggests that prompt allogeneic transplantation may overcome the poor prognostic implications of U2AF1 mutations in MF.