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Chronic Myeloid Neoplasms

MDS/MPN

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.

Definition
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● 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

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

Diagnosis
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● 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

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

Micro images
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Various images

Molecular description
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● 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 images/tables
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Table of FGFR1 gene partners


FISH assay of FIM (also called ZNF198) and FGFR1

Differential diagnosis
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● 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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