Chronic Myeloid Neoplasms
Myeloid neoplasm associated with FGFR1 rearrangement
Reviewer: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 10 August 2011, last major update August 2011
Copyright: (c) 2001-2011, PathologyOutlines.com, Inc.
● First described in 1995 as 8p11 myeloproliferative syndrome (Leukemia 1995;9:1628);
previously called stem cell leukemia-lymphoma syndrome
● Aggressive hematologic malignancy characterized by myeloid hyperplasia, eosinophilia and precursor lymphoblastic lymphoma, usually T cell type (Acta Haematol 2002;107:101, Am J Surg Pathol 2008;32:14)
● Can present as myeloproliferative neoplasm or in transformation as AML
● 19 year old woman with axillary nodule (Univ Pittsburgh Case of Month)
● Bone marrow examination with tryptase stain, T cell clonal studies
● Use of immunostains, cytogenetics and molecular studies to detect FGFR1 rearrangement and absence of BCR-ABL
● Peripheral blood: eosinophila and neutrophilia, with occasionally monocytosis
● Bone marrow: hypercellular with myeloid hyperplasia and eosinophilia, no increased blasts, no dysplastic features
● Balanced translocations with 8p11, most commonly t(8;13)(p11;q12) - FGFR1 and ZNF198 (Blood 1998;92:1735)
● 8p11 may also involve MOZ gene, a putative histone acetyltransferase, associated with AML-M4/M5 (Blood 1997;90:3130)
● t(5;12)(q33;p13) creating PDGFRB and ETV6 is associated with chronic myelomonocytic leukemia with eosinophilia (Acta Haematol 2002;107:113)
● FGFR1 associated with leukemia/lymphoma should be classified as leukemia/lymphoma associated with FGFR1 rearrangement
Table of FGFR1 gene partners
FISH assay of FIM (also called ZNF198) and FGFR1
● Chronic eosinophilic leukemia - not otherwise categorized or hypereosinophilic syndrome (no FGFR1 rearrangement)
End of Chronic Myeloid Neoplasms > MDS/MPN > Myeloid neoplasm associated with FGFR1 rearrangement
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