Lymphomas Associated with FGFR1 Abnormalities
These are rare and aggressive neoplasms characterized by translocations involving chromosome locus 8p11, and therefore the disease is also known as 8p11 myeloproliferative syndrome (EMS). The affected gene is the fibroblast growth factor receptor 1 (FGFR1). The most common cytogenetic abnormality is t(8;13)(p11;q12), where FGFR1 on chromosome 8p11 is disrupted and combines with MYM2 (formerly known as ZNF198) in chromosome 13q12. A chimeric protein MYM2–FGFR1 has constitutive tyrosine kinase activity with an end result of cell proliferation. Eight other abnormalities involving FGFR1 have been reported. Patients with EMS can develop lymphoma and/or have peripheral blood and bone marrow findings suggestive of a myeloproliferative or myelodysplastic/myeloproliferative neoplasm (MPN). Most patients progress to acute myeloid leukemia. Therefore, patients with EMS can present with lymphadenopathy as a result of lymphoma, or present with elevated blood counts and eosinophilia suggestive of MPN, or they can be pancytopenic when they develop acute leukemia. In the current World Health Organization classification, these neoplasms are grouped with two other clinically similar disorders under the umbrella term myeloid and lymphoid neoplasm with eosinophilia and abnormalities of platelet-derived growth factor receptor (PDGFR) alpha, PDGFR beta, or FGFR1.
KeywordsLymphoma Tyrosine Leukemia Germinal Sarcoma
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