title: Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case.
abstract: Systemic mastocytosis is a neoplastic proliferation of mast cells that frequently presents with associated clonal hematological non-mast cell lineage disease. Myeloid and lymphoid neoplasms with abnormalities of the FGFR1 gene are a heterogenous group of rare and aggressive hematopoietic stem cell disorders. About a dozen of chromosome changes involving the FGFR1 gene, presenting as myeloid or lymphoid neoplasms, have been described in the literature. To date, only 2 cases of myeloid and lymphoid neoplasms with abnormalities of the FGFR1 gene have been reported in association with systemic mastocytosis, one with t(8;13) and one with t(8;17) involving the FGFR1 gene. Here we describe another case of myeloproliferative neoplasm with chromosome translocation t(8;19) involving FGFR1 gene associated with systemic mastocytosis.
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University School of Medicine Atlanta, GA, USA.
authors.forename: Christina B
authors.initials: CB
authors.lastname: Duckworth
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University School of Medicine Atlanta, GA, USA.
authors.forename: Linsheng
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University School of Medicine Atlanta, GA, USA.
authors.forename: Shiyong
authors.initials: S
authors.lastname: Li
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D001856:Bone Marrow Examination; D002888:Chromosomes, Human, Pair 19; D002898:Chromosomes, Human, Pair 8; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D034721:Mastocytosis, Systemic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D010641:Phenotype; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D033581:Stem Cell Transplantation; D014178:Translocation, Genetic; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1
keywords: FGFR1; Myeloproliferative neoplasm; eosinophilia; systemic mastocytosis associated with clonal hematological non-mast cell lineage disease