title: Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion.
abstract: We report the case of a child who presented with nonspecific symptoms suggestive of a rheumatologic disorder, whose bone marrow had a complex translocation involving the FGFR1 locus. Hematopathologic findings were subtle and did not definitively indicate malignancy. Because he responded poorly to initial treatment with hydroxyurea, and in light of the progressive clinical course associated with the 8p11 myeloproliferative syndrome, he underwent an unrelated-donor hematopoietic stem cell transplant. This patient's atypical presentation highlights the importance of obtaining cytogenetic analysis at the time of bone marrow sampling and considering this uncommon entity in the differential diagnosis of hematologic disorders.
authors: Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
authors: Michelle
authors: M
authors: Dolan
authors: Adina
authors: A
authors: Cioc
authors: Nicholas C P
authors: NC
authors: Cross
authors: Joseph P
authors: JP
authors: Neglia
authors: Jakub
authors: J
authors: Tolar
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D014178:Translocation, Genetic; D014184:Transplantation, Homologous
chemical_list: D015514:Oncogene Proteins, Fusion; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr