title: Rapid transformation of atypical myeloproliferative disorder with consistent t(8;13) to B-cell acute lymphoblastic leukemia: a case report.
abstract: 8p11 myeloproliferative syndrome (EMS; also known as the stem cell leukemia syndrome-SCLL) is a rare atypical myeloproliferative disorder associated with chromosomal abnormalities involving the 8p11 chromosomal band. Translocations associated with this syndrome result in the fusion of the fibroblast growth factor receptor 1 (FGFR 1) gene with various partners, resulting in ligand independent FGFR activity. The most commonly observed translocation of this syndrome is t(8;13), which results in the expression of a chimeric ZNF198-FGFR1 tyrosine kinase. Disease phenotype associated with this translocation has some typical features such as poor prognosis, and transformation to mainly acute leukemia and non-Hodgkin lymphoma; commonly with a T-cell phenotype in which obtaining and maintenance of remission is difficult by conventional chemotherapy. We hereby present a case diagnosed as atypical chronic myeloproliferative disease with consistent t(8;13)(p12;q12) and transformed rapidly to pre-B-cell acute lymphoblastic leukemia which is a rare clinical presentation.
authors.affiliation: Department of Hematology, School of Medicine, Ege University, Bornova, Izmir, Turkey.
authors.forename: Fahri
authors.initials: F
authors.lastname: Sahin
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Sercan
authors.forename: Yesim
authors.initials: Y
authors.lastname: Ertan
authors.forename: Serkan
authors.initials: S
authors.lastname: Ocakci
authors.forename: Ertan
authors.initials: E
authors.lastname: Ay
authors.forename: Filiz
authors.initials: F
authors.lastname: Vural
authors.forename: Erdinc
authors.initials: E
authors.lastname: Yuksel
authors.forename: Murat
authors.initials: M
authors.lastname: Tombuloglu
authors.forename: Guray
authors.initials: G
authors.lastname: Saydam
mesh_terms: D002051:Burkitt Lymphoma / Q000209:etiology*; D002471:Cell Transformation, Neoplastic; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000473:pathology*; D014178:Translocation, Genetic