The 8p11 Myeloproliferative Syndrome: Review of Literature and an Illustrative Case Report.
Publication/Presentation Date
1-1-2008
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 case.
Volume
1
Issue
5
First Page
448
Last Page
456
ISSN
1936-2625
Published In/Presented At
Goradia, A., Bayerl, M., & Cornfield, D. (2008). The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. International Journal Of Clinical And Experimental Pathology, 1(5), 448-456.
Disciplines
Medical Pathology | Pathology
PubMedID
18787627
Department(s)
Department of Pathology and Laboratory Medicine, Pathology Laboratory Medicine Faculty
Document Type
Article