Myeloid neoplasm with prominent eosinophilia and PDGFRA rearrangement treated with imatinib mesylate.
The FIP1L1-PDGFRA fusion gene is the most frequent genetic aberration in myeloid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1. Affected patients in adult populations are very sensitive to imatinib therapy. Pediatric cases are rare and so far only one case of FIP1L1-PDGFRA positive disease has been reported. We report a 2-year-old female with a myeloid neoplasm associated with eosinophilia and rearrangement of PDGFRA. Treatment with imatinib resulted in complete and durable clinical, hematological, and molecular remission within 3 months after starting treatment.
Rathe
Mathias
M
Department of Pediatric Hematology and Oncology, H.C. Andersen Children's Hospital, Odense, Denmark. mathias@rathe.nu
Kristensen
Thomas Kielsgaard
TK
Møller
Michael Boe
MB
Carlsen
Niels L T
NL
D001549:Benzamides; D002675:Child, Preschool; D004802:Eosinophilia / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D000068877:Imatinib Mesylate; D009196:Myeloproliferative Disorders / Q000188:drug therapy / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics
D001549:Benzamides; C479818:FIP1L1 protein, human; D010879:Piperazines; D011743:Pyrimidines; D039221:mRNA Cleavage and Polyadenylation Factors; D000068877:Imatinib Mesylate; D020796:Receptor, Platelet-Derived Growth Factor alpha