title: Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation.
abstract: B-lymphoblastic leukemia (B-ALL) is a neoplasm of precursors committed to B-cell lineage, whereas myeloproliferative neoplasm (MPN) is a clonal proliferation derived from myeloid stem cells. Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene. Herein, we describe a rare concurrence, B-ALL with MPN without the aforementioned genetic aberrations, in a 64-year-old male patient. The patient was initially diagnosed with B-ALL with normal karyotype and responded well to aggressive chemotherapy but had sustained leukocytosis and splenomegaly. The posttreatment restaging bone marrow was free of B-ALL but remained hypercellular with myeloid predominance. Using a single nucleotide polymorphism microarray study, we identified a copy neutral loss of heterozygosity at the terminus of 1p in the bone marrow samples taken at diagnosis and again at remission, 49% and 100%, respectively. Several additional genetic abnormalities were present in the initial marrow sample but not in the remission marrow samples. Retrospective molecular studies detected a MPL W515S homozygous mutation in both the initial and remission marrows for B-ALL, at 30-40% and 80% dosage effect, respectively. In summary, we present a case of concurrent B-ALL and MPN and demonstrate a stepwise cytogenetic and molecular approach to the final diagnosis.
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute and the University of South Florida, Tampa, FL, USA.
authors.forename: Jiangchuan
authors.initials: J
authors.lastname: Tao
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute and the University of South Florida, Tampa, FL, USA.
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute and the University of South Florida, Tampa, FL, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Lancet
authors.affiliation: Department of Pathology, University of Rochester Medical Center, School of Medicine and Dentistry, Rochester, NY, USA.
authors.forename: John M
authors.initials: JM
authors.lastname: Bennett
authors.affiliation: Departments of Cytogenetics and Molecular Oncology Lab, Integrated Oncology-Laboratory Corporation of America, RTP, Winston-Salem, NC, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Cai
authors.affiliation: Departments of Cytogenetics and Molecular Oncology Lab, Integrated Oncology-Laboratory Corporation of America, RTP, Winston-Salem, NC, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Papenhausen
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute and the University of South Florida, Tampa, FL, USA.
authors.forename: Lynn
authors.initials: L
authors.lastname: Moscinski
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute and the University of South Florida, Tampa, FL, USA. Electronic address: zhangl1999@yahoo.com.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
mesh_terms: D002878:Chromosomes, Human, Pair 1; D020732:Cytogenetic Analysis; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000473:pathology*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology*; D053628:Receptors, Thrombopoietin / Q000235:genetics*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human
keywords: B-ALL; B-lymphoblastic leukemia/lymphoma/B-cell acute lymphoblastic leukemia; MPL mutation; copy neutral loss of heterozygosity; myeloproliferative neoplasm