Bone marrow neoplastic
Bone marrow - neoplastic myeloid
Myeloid / lymphoid neoplasms with eosinophilia and gene rearrangement
FGFR1 rearrangement
Author: Nikhil Sangle, M.D.
Topic Completed: 1 August 2011
Minor changes: 14 October 2020
Copyright: 2002-2020, PathologyOutlines.com, Inc.
PubMed Search: Myeloid neoplasm FGFR1 rearrangement
Table of Contents
Definition / general | Diagnosis | Case reports | Microscopic (histologic) description | Microscopic (histologic) images | Molecular / cytogenetics description | Molecular / cytogenetics images | Differential diagnosisCite this page: Sangle N. FGFR1 rearrangement. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/myeloproliferativeFGFR1.html. Accessed November 23rd, 2020.
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
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 (University of 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
Images hosted on other servers:
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
Images hosted on other servers:
FISH assay of FIM (also called ZNF198) and FGFR1
Differential diagnosis
- Chronic eosinophilic leukemia - not otherwise categorized or hypereosinophilic syndrome (no FGFR1 rearrangement)
