Bone marrow neoplastic

Bone marrow - neoplastic myeloid

Myeloid / lymphoid neoplasms with eosinophilia and gene rearrangement

FGFR1 rearrangement

Topic Completed: 1 August 2011

Minor changes: 10 January 2022

Copyright: 2002-2022,, Inc.

PubMed Search: Myeloid neoplasm FGFR1 rearrangement

Nikhil Sangle, M.D.
Page views in 2021: 188
Page views in 2022 to date: 10
Cite this page: Sangle N. FGFR1 rearrangement. website. Accessed January 19th, 2022.
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
  • 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
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

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