Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case

• Type of Material: Article
• Authors: Christina B Duckworth, Emory University; Linsheng Zhang, Emory University; Shiyong Li, Emory University
• Language: English
• Date: 2014
• Publisher: e-Century Publishing
• Publication Version: Final Published Version
• Copyright Statement: IJCEP Copyright © 2014. The International Journal of Clinical and Experimental Pathology (IJCEP, ISSN 1936-2625) is a peer reviewed, open access online journal.
• Final Published Version (URL): http://www.ijcep.com/V7_No2.html
• Title of Journal or Parent Work: International Journal of Clinical and Experimental Pathology
• ISSN: 1936-2625
• Volume: 7
• Issue: 2
• Start Page: 801
• End Page: 807
• Keywords: FGFR1; eosinophilia; systemic mastocytosis associated with clonal hematological non-mast cell lineage disease; Myeloproliferative neoplasm
• Research Categories: Biology, Cell; Health Sciences, Pathology

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.