Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion

We report the case of a child who presented with nonspecificsymptoms suggestive of a rheumatologic disorder, whose bonemarrow had a complex translocation involving the FGFR1 locus.Hematopathologic findings were subtle and did not definitivelyindicate malignancy. Because he responded poorly to initial treatmentwith hydroxyurea, and in light of the progressive clinicalcourse associated with the 8p11 myeloproliferative syndrome, heunderwent an unrelated-donor hematopoietic stem cell transplant.This patient’s atypical presentation highlights the importance ofobtaining cytogenetic analysis at the time of bone marrow samplingand considering this uncommon entity in the differential diagnosisof hematologic disorders