Translocation t(3;8;9)(p25;p21;q34) in a patient with features of 8p11 myeloproliferative syndrome: a unique case and review of the literature.

摘要

8p11 myeloproliferative syndrome (EMS) is a rare heterogeneous myeloid and lymphoid neoplasm characterized by translocations involving the fibroblast growth factor receptor 1 (FGFR1) located at 8p11 [1-3]. Diagnostic criteria in the revised WHO classification include: a myeloproliferative neoplasm with prominent eosinophilia and sometimes neutrophilia or monocytosis or acute myeloid leukemia or precursor T-cell or B-cell lymphoblastic leukemia/lymphoma (usually associated with peripheral blood or bone marrow eosinophilia), and the presence of t(8;13)(p11;q13) or a variant translocation leading to FGFR1 rearrangement demonstrated in myeloid cells, lymphoid cells or both [2]. EMS is typically seen in adults but also occurs in the pediatric population and is characterized by an aggressive clinical course with transformation to acute leukemia [1-3].