title: Immunophenotypic and cytogenetic findings of B-lymphoblastic leukemia/lymphoma associated with combined IGH/BCL2 and MYC rearrangement.
abstract: B-lymphoblastic leukemias (B-LBL) with combined IGH/BCL2 and MYC rearrangement are rare and their clinical, cytogenetic and immunophenotypic features are not well characterized. Here, we describe a case of a 61-year-old woman with B-LBL associated with these cytogenetic alterations and present a review of the literature of this disease.
  
  
  
  Four-color flow cytometry (FC) was performed on a BD FACSCanto II flow cytometer. Data were analyzed with BD FACSDiva software. Cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies were performed by conventional methods. A review of the literature was performed by a PubMed-assisted search.
  
  
  
  Including our case, eight B-LBLs associated with a documented "double-hit" karyotype (IGH/BCL2 and 8q24/MYC rearrangement) were identified in the literature (male/female 2/6, age 15-65). Three occurred de-novo, and five had a history of a CD10+ B-cell lymphoma. The typical immunophenotype was CD10, CD19, TdT positive, and negative for CD34 and surface immunoglobulin (Ig), established either by FC or immunohistochemistry. Seven cases were CD20-, and one case was CD20+. Translocation partners of MYC varied, and included IGH, lambda light chain, and an unknown gene on chromosome 9. Prognosis was poor with median survival of five months.
  
  
  
  Patients with B-LBL associated with a combined IGH/BCL2 and MYC rearrangement often have a history of a mature B-cell lymphoma. The immunophenotype of these cases is different from that of mature "double-hit" lymphomas; FC is essential to differentiate the B-LBL cases from the leukemic phase of mature B-cell lymphomas. © 2015 International Clinical Cytometry Society.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
authors.forename: Katalin
authors.initials: K
authors.lastname: Kelemen
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
authors.forename: Jaclyn
authors.initials: J
authors.lastname: Holden
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Johnson
authors.affiliation: Department of Pathology, the Billings Clinic, Billings, Montana.
authors.forename: Simone
authors.initials: S
authors.lastname: Davion
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic Hospital, Phoenix, Arizona.
authors.forename: Ryan S
authors.initials: RS
authors.lastname: Robetorye
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics / Q000276:immunology; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics* / Q000378:metabolism; D016130:Immunophenotyping; D007621:Karyotyping; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000276:immunology; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D011379:Prognosis; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics* / Q000276:immunology; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics* / Q000276:immunology; D016019:Survival Analysis; D014178:Translocation, Genetic
chemical_list: D015703:Antigens, CD; C000595707:BCL2 protein, human; D007143:Immunoglobulin Heavy Chains; C489427:MYC protein, human; D015514:Oncogene Proteins, Fusion; D019253:Proto-Oncogene Proteins c-bcl-2; D016271:Proto-Oncogene Proteins c-myc
keywords: B-lymphoblastic leukemia/lymphoma; IGH/BCL2 translocation; MYC rearrangement; immunophenotype