title: 8p11 myeloproliferative syndrome with t(1;8)(q25;p11.2): a case report and review of the literature.
abstract: 8p11 myeloproliferative syndrome (EMS) is a rare disease characterized by myeloproliferative neoplasm (MPN) associated with eosinophilia and T or B lymphoblastic lymphoma/leukemia. EMS is defined by molecular disruption of the FGFR1 gene at the 8p11-12 chromosome locus, and various partner genes are associated with FGFR1 gene translocation or insertion. The different partner-FGFR1 fusion genes are associated with slightly different disease phenotypes. The present patient showed T lymphoblastic lymphoma in a cervical lymph node, involvement of malignant lymphoma in the skin, and MPN bone marrow morphology with peripheral monocytosis. Chromosome analysis of the patient showed t(1;8)(q25;p11.2). To our knowledge, only 2 cases of EMS with translocation of t(1;8)(q25;p11.2) have been previously reported. Including this case, all 3 cases with EMS with t(1;8)(q25;p11.2) showed MPN bone marrow morphology and peripheral monocytosis. These findings support that t(1;8)(q25;p11.2) is associated with peripheral monocytosis in EMS patients. Of the 2 cases of EMS with t(1;8)(q25;p11.2) which were previously reported, FGFR1 rearrangement was not confirmed in 1 case. Similarly, FGFR1 rearrangement in the present case was not detected by fluorescence in situ hybridization or reverse transcription-polymerase chain reaction. Further study is needed to identify other techniques that could be used to demonstrate FGFR1 rearrangement.
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: Woo-Seong
authors.initials: WS
authors.lastname: Kim
authors.forename: Sang-Gon
authors.initials: SG
authors.lastname: Park
authors.forename: Geon
authors.initials: G
authors.lastname: Park
authors.forename: Sook-Jin
authors.initials: SJ
authors.lastname: Jang
authors.forename: Dae-Soo
authors.initials: DS
authors.lastname: Moon
authors.forename: Seong-Ho
authors.initials: SH
authors.lastname: Kang
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic; D016896:Treatment Outcome