FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia

DOI PDF 被引用文献9件
  • Animesh Pardanani
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Stephanie R. Brockman
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Sarah F. Paternoster
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Heather C. Flynn
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Rhett P. Ketterling
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Terra L. Lasho
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Ching-Liang Ho
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Chin-Yang Li
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Gordon W. Dewald
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
  • Ayalew Tefferi
    From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.

抄録

<jats:title>Abstract</jats:title> <jats:p>A novel oncogenic mutation (FIP1L1-PDGFRA), which results in a constitutively activated platelet-derived growth factor receptor-α (PDGFRA), has been invariably associated with a primary eosinophilic disorder. The current study examines both the prevalence and the associated clinicopathologic features of this mutation in a cohort of 89 adult patients presenting with an absolute eosinophil count (AEC) of higher than 1.5 × 109/L. A fluorescence in situ hybridization (FISH)–based strategy was used to detect FIP1L1-PDGFRA in bone marrow cells. None of 8 patients with reactive eosinophilia displayed the abnormality, whereas the incidence of FIP1L1-PDGFRA in the remaining 81 patients with primary eosinophilia was 14% (11 patients). None (0%) of 57 patients with the hypereosinophilic syndrome (HES) but 10 (56%) of 19 patients with systemic mast cell disease associated with eosinophilia (SMCD-eos) carried the specific mutation. The bone marrow mast cell infiltration pattern in FIP1L1-PDGFRA+ SMCD-eos was distinctly diffuse with loose tumoral aggregates. Treatment with low-dose imatinib (100 mg/d) produced complete and durable responses in all 8 FIP1L1-PDGFRA+ cases treated. In contrast, only 40% partial response rate was seen in 10 HES cases. FIP1L1-PDGFRA is a relatively infrequent but treatment-relevant mutation in primary eosinophilia that is indicative of an underlying systemic mastocytosis.</jats:p>

収録刊行物

  • Blood

    Blood 104 (10), 3038-3045, 2004-11-15

    American Society of Hematology

被引用文献 (9)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ