Case Report The 8p11 Myeloproliferative Syndrome: Review of Literature and an Illustrative Case Report
Ami Goradia, Michael Bayerl and Dennis Cornfield
Department of Pathology, Hospital of the University of Pennsylvania, Philadelphia, PA; Department of Pathology, Penn State / Hershey Medical Center, Hershey, PA and Department of Pathology, Health Network Laboratories/Lehigh Valley Hospital, Allentown, PA.
Received 25 Oct 2007; accepted and available online 1 January 2008
Abstract: The 8p11 myeloproliferative syndrome (EMS), also called stem cell leukemia/lymphoma (SCLL), is a relatively rare condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a bcr/abl-negative myeloproliferative disorder and a lymphoma, usually a precursor T lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia which is resistant to conventional chemotherapy. The defining cytogenetic abnormality, a translocation at the 8p11 locus, always involves the fibroblast growth factor 1 (FGFR1) gene. To date, eight partner genes have been identified in association with FGFR1 rearrangements. The most frequent FGFR1 translocation partner is the zinc finger gene ZNF198 located at 13q11. The t(8;13)(p11;q11) disrupts intron 8 of the FGFR1 gene and fuses proline-rich and zinc finger domains of the ZNF198 gene with the cytoplasmic tyrosine kinase domain of FGFR1. Oligomerization of the fusion protein occurs, with subsequent activation of downstream signal transduction pathways, culminating in neoplastic cell transformation. This review describes the historical development of the EMS/SCLL and outlines its cytogenetic abnormalities and molecular mechanisms with an illustrative cas. (IJCEP710009).
Address all correspondence to: Ami D. Goradia MD, Dept. of Pathology & Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, 6 Founders Pavilion, Philadelphia, Pennsylvania 19104; pager (215) 374 - 4317, fax (215) 662 - 7742, Email: email@example.com