title: Clonal evolution of 8p11 stem cell syndrome in a 14-year-old Chinese boy: a review of literature of t(8;13) associated myeloproliferative diseases.
abstract: We describe a case of coexisting BCR-ABL negative myeloproliferative disorder and precursor T-cell lymphoblastic lymphoma associated with t(8;13) involving FGFR1 at 8p11 in a 14-year-old boy who presented with generalized lymphadenopathy and an abdominal mass. JAK2 mutation and FIP1L1-PDGFRalpha were not detected. RT-PCR revealed the ZNF198-FGFR1 fusion transcript in both the bone marrow (BM) and lymph node (LN) of the patient at diagnosis. Of interest, reciprocal FGFR1-ZNF198 fusion transcript was demonstrated in the BM but not LN. Also differential clonal TcRgamma gene rearrangements in the BM and LN samples were observed. These findings provide novel insights into the genetic pathogenesis.
authors.affiliation: Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR, China.
authors.forename: Wai-Shan
authors.initials: WS
authors.lastname: Wong
authors.forename: Kelvin Chi-Keung
authors.initials: KC
authors.lastname: Cheng
authors.forename: Kin-Mang
authors.initials: KM
authors.lastname: Lau
authors.forename: Natalie Pui-Ha
authors.initials: NP
authors.lastname: Chan
authors.forename: Matthew Ming-Kong
authors.initials: MM
authors.lastname: Shing
authors.forename: Suk-Hang
authors.initials: SH
authors.lastname: Cheng
authors.forename: Ki-Wai
authors.initials: KW
authors.lastname: Chik
authors.forename: Chi-Kong
authors.initials: CK
authors.lastname: Li
authors.forename: Margaret Heung-Ling
authors.initials: MH
authors.lastname: Ng
mesh_terms: D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002681:China / Q000453:epidemiology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002999:Clone Cells; D018450:Disease Progression; D019675:Genes, T-Cell Receptor gamma / Q000235:genetics; D006412:Hematopoietic Stem Cells / Q000473:pathology; D006801:Humans; D008297:Male; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D012074:Remission Induction; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D051496:Receptor, Fibroblast Growth Factor, Type 1