Myeloid neoplasm associated with FGFR1 rearrangement

Chronic Myeloid Neoplasms
Myeloid neoplasms associated with eosinophilia and abnormalities
Myeloid neoplasm associated with FGFR1 rearrangement

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 9 March 2017, last major update August 2011

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Myeloid neoplasm FGFR1 rearrangement

Table of Contents

Cite this page: Myeloid neoplasm associated with FGFR1 rearrangement. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/myeloproliferativeFGFR1.html. Accessed July 20th, 2018.

Definition / general

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

Diagrams / tables

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Table of FGFR1 gene partners

Diagnosis

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

Case reports

19 year old woman with axillary nodule (Univ Pittsburgh Case of Month)

Microscopic (histologic) description

Peripheral blood: eosinophila and neutrophilia, with occasionally monocytosis
Bone marrow: hypercellular with myeloid hyperplasia and eosinophilia, no increased blasts, no dysplastic features

Microscopic (histologic) images

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Various images

Molecular / cytogenetics description

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

Molecular / cytogenetics images

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FISH assay of FIM (also called ZNF198) and FGFR1

Differential diagnosis

Chronic eosinophilic leukemia - not otherwise categorized or hypereosinophilic syndrome (no FGFR1 rearrangement)