Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1.

OBJECTIVES: This session of the 2013 Society for Hematopathology/European Association for Haematopathology Workshop was dedicated to tumors currently included in the World Health Organization (WHO) classification category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1.

METHODS: We use the cases submitted to this session to review the clinicopathologic and genetic spectrum of these neoplasms, methods for their diagnosis, and issues related to the WHO classification terminology. Since many patients with these neoplasms have eosinophilia, we also briefly mention other causes of clonal eosinophilia.

RESULTS: These neoplasms are the result of gene fusions involving any one of these three tyrosine kinase genes. A variety of gene fusion partners have been found consistently for each category of neoplasms. Diagnoses of these neoplasms are often highly challenging and require a high index of suspicion and a multidisciplinary approach.

CONCLUSIONS: Early recognition of these neoplasms is important because patients with neoplasms associated with PDGFRA or PDGFRB fusions often respond to tyrosine kinase inhibitor therapy, whereas patients with neoplasms associated with FGFR1 fusions usually do not respond.