Advertisement
Research Article| Volume 10, ISSUE 1, P119-149, March 1990

Molecular Genetic Approaches for the Diagnosis of Clonality in Lymphoid Neoplasms

  • Cheryl L. Willman
    Correspondence
    Address reprint requests to: Cheryl L. Willman, MD, UNM Center for Molecular and Cellular Diagnostics, University of New Mexico School of Medicine, 900 Camino de Salud NE, Albuquerque, NM 87131
    Affiliations
    Assistant Professor, Departments of Cell Biology and Pathology, and Director, UNM Center for Molecular and Cellular Diagnostics, University of New Mexico School of Medicine, Albuquerque, New Mexico.
    Search for articles by this author
  • Barbara B. Griffith
    Affiliations
    Staff Scientist and Technical Director, Molecular Diagnostics, UNM Center for Molecular and Cellular Diagnostics, University of New Mexico School of Medicine, Albuquerque, New Mexico.
    Search for articles by this author
  • Michael Whittaker
    Affiliations
    Fellow in Hematopathology, Department of Pathology, University of New Mexico School of Medicine, Albuquerque, New Mexico.
    Search for articles by this author
      This paper is only available as a PDF. To read, Please Download here.
      The isolation of human DNA sequences that encode immunoglobulin genes, T cell receptor genes, and protooncogenes involved in the pathogenesis of lymphoid neoplasms has provided highly sensitive molecular probes to determine clonality and lineage in lymphopro-liferative lesions. The application of these probes to diagnostic problems in pathology has enhanced greatly the ability of the pathologist to determine clonality and lineage in lymphoid neoplasms, distinguish lymphoid from non-lymphoid tumors, monitor minimal residual disease, and identify early relapse.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.

      Subscribe:

      Subscribe to Clinics in Laboratory Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Alt F.
        • Blackwell K.
        • Yancopoulos G.D.
        Development of the primary antibody repertoire.
        Science. 1987; 238: 1079
        • Baer R.
        • Chen K-C
        • Smith S.D.
        • et al.
        Fusion of an immunoglobulin variable gene and a T-cell receptor constant gene in the chromosome 14 inversion associated with T-cell tumors.
        Cell. 1985; 43: 705
        • Bonneville M.
        • Janeway Jr., C.A.
        • Ito K.
        • et al.
        Intestinal intraepithelial lymphocytes are a distinct set of Tgamma/delta cells.
        Nature. 1988; 336: 479
        • Cheng G.Y.
        • Minden M.D.
        • Toyonage B.
        • et al.
        T cell receptor and immunoglobulin gene rearrangements in acute myeloblastic leukemia.
        J Exp Med. 1986; 163: 414
        • Chien Y-H
        • Iwashima M.
        • Kaplan K.B.
        • et al.
        A new T-cell receptor gene located within the alpha locus and expressed early in T-cell differentiation.
        Nature. 1987; 327: 677
        • Cossman J.
        • Uppenkamp M.
        • Sundeen J.
        • et al.
        Molecular genetics and the diagnosis of lymphoma.
        Arch Pathol Lab Med. 1988; 112: 117
        • Crescenzi M.
        • Seto M.
        • Herzig G.P.
        • et al.
        Thermostable DNA polymerase chain amplification of t(14;18) chromosome breakpoints and detection of minimal residual disease.
        Proc Natl Acad Sci USA. 1988; 85: 4869
        • Dalla-Favera R.
        • Bregni M.
        • Erikson J.
        • et al.
        Assignment of the human c-myc oncogene to the region of chromosome 8 which is translocated in Burkitt’s lymphoma cells.
        Proc Natl Acad Sci USA. 1982; 79: 7824
        • Desiderio S.
        • Yancopoulos G.
        • Paskin D.M.
        • et al.
        Insertion of N regions into heavy-chaingenes is correlated with expression of terminal deoxynucleotidyl transferase in B cells.
        Nature. 1984; 311: 752
        • Dyer M.J.S.
        T-cell receptor delta/alpha rearrangements in lymphoid neoplasms.
        Blood. 1989; 74: 1073
        • Erikson J.
        • Finan J.
        • Tsujimoto Y.
        • et al.
        The chromosome 14 breakpoint in neoplastic B cells with the t(l 1; 14) translocation involves the immunoglobulin heavy chain locus.
        Proc Natl Acad Sci USA. 1984; 81: 4144
        • Feller A.C.
        • Griesser H.
        • Mak T.W.
        • et al.
        Lymphoepithelioid lymphoma (Lennert’s lymphoma) is a monoclonal proliferation of helper/inducer T cells.
        Blood. 1986; 68: 663
        • Fenoglio-Preiser C.M.
        • Willman C.L.
        Molecular biology and the pathologist: General principles and applications.
        Arch Pathol Lab Med. 1987; 111: 601
        • Fey M.F.
        • Pilkington S.P.
        • Summers C.
        • et al.
        Molecular diagnosis of heamatological disorders using DNA from stored bone marrow slides.
        Br J Haematol. 1987; 67: 489
        • Foon K.A.
        • Todd III, R.F.
        Immunologic classification of leukemia and lymphoma.
        Blood. 1986; 68: 1
        • Griesser H.
        • Mak T.W.
        Immunogenotyping in Hodgkin’s disease.
        Hematol Oncol. 1988; 6: 239
        • Griesser H.
        • Tkachuk D.
        • Reis M.D.
        • et al.
        Gene rearrangements and translocations in lymphoproliferative diseases.
        Blood. 1989; 73: 1402
        • Haregewoin A.
        • Soman G.
        • Horn R.C.
        • et al.
        Human gamma/delta +T cells respond to mycobacterial heat-shock protein.
        Nature. 1989; 340: 309
        • Hata S.
        • Brenner M.B.
        • Krangel M.S.
        Identification of putative human T cell receptor delta complementary DNA clones.
        Science. 1987; 238: 678
        • Heiter P.A.
        • Hollis G.F.
        • Korsmeyer S.J.
        • et al.
        Clustered arrangement of immunoglobulin λ constant region genes in man.
        Nature. 1981; 294: 536
        • Hieter P.A.
        • Max E.E.
        • Seidman J.G.
        • et al.
        Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments (Part 1).
        Cell. 1980; 22: 197
        • Kagan J.
        • Finger L.R.
        • Letofsky J.
        • et al.
        Clustering of breakpoints on chromosome 10 in acute T-cell leukemias with the t(10;14) chromosome translocation.
        Proc Natl Acad Sci USA. 1989; 86: 4161
        • Knowles D.M.
        Immunophenotypic and antigen receptor gene rearrangement analysis in T-cell neoplasia.
        Am J Pathol. 1989; 134: 761
        • Knowles D.M.
        • Athan E.
        • Ubriaco A.
        • et al.
        Extranodal noncutaneous lymphoid hyperplasias represent a continuous spectrum of B-cell neoplasia: Demonstration by molecular genetic analysis.
        Blood. 1989; 73: 1635
        • Koning F.
        • Stingl G.
        • Yokoyama W.M.
        • et al.
        Identification of a T3-associated gamma/delta T cell receptor on thy-l+ dendritic epidermal cell lines.
        Science. 1987; 236: 834
        • Korsmeyer S.J.
        • Arnold A.
        • Bakhshi A.
        • et al.
        Immunoglobulin gene rearrangement and cell surface antigen expression in acute lymphocytic leukemias of T-cell and B-cell precursor origins.
        J Clin Invest. 1983; 71: 301
        • Korsmeyer S.J.
        • Heiter P.A.
        • Ravetch J.V.
        • et al.
        Developmental hierarchy of immunoglobulin gene rearrangements in human leukemic pre-B cells.
        Proc Natl Acad Sci USA. 1981; 78: 7096
        • Korsmeyer S.J.
        • Heiter P.
        • Sharrow S.O.
        • et al.
        Normal human B cells display ordered light-chain gene rearrangements and deletions.
        J Exp Med. 1982; 156: 975
        • Lai E.
        • Birren B.W.
        • Clark S.W.
        • et al.
        Pulsed field gel electrophoresis.
        Biotechniques. 1989; 7: 34
        • Lee M-S
        • Chang K-S
        • Cabanillas F.
        • et al.
        Detection of minimal residual cells carrying the t(14;18) by DNA sequence amplification.
        Science. 1987; 237: 175
        • Lefranc M.P.
        • Forster A.
        • Baer T.
        • et al.
        Diversity and rearrangement of the human T cell rearranging gamma genes: Nine germ-line variable genes belonging in two subgroups.
        Cell. 1986; 45: 237
        • Max J.
        Multiplying genes by leaps and bounds.
        Science. 1988; 240: 1408
        • McGuire E.A.
        • Hockett R.D.
        • Pollock K.M.
        • et al.
        The t(11;14)(pl5;q11) in a T-cell acute lymphoblastic leukemia cell line activates multiple transcripts, including Ttg-1, a gene encoding a potential zinc finger protein.
        Mol Cell Biol. 1989; 9: 2124
        • Mellentin J.D.
        • Smith S.D.
        • Cleary M.L.
        lyl-1, a novel gene altered by chromosomal translocation in T cell leukemia, codes for a protein with a helix-loop-helix DNA binding motif.
        Cell. 1989; 58: 77
        • Nishikura K.
        • ar-Rushdi A.
        • Erikson J.
        • et al.
        Differential expression of the normal and of the translocated human c-myc oncogene in B cells.
        Proc Natl Acad Sci USA. 1983; 80: 4822
        • Norton J.D.
        • Campana D.
        • Hoffbrand A.V.
        • et al.
        Correlation of immunophenotype with rearrangement of T-cell antigen receptor beta and gamma genes in ALL of adults.
        Leukemia. 1988; 2: 27
        • Nuss R.
        • Kitchingman G.
        • Cross A.
        • et al.
        T cell receptor gene rearrangements in B-precursor acute lymphoblastic leukemia correlate with age and the stage of B cell differentiation.
        Leukemia. 1988; 2: 722
        • Quertermous T.
        • Murre C.
        • Dialynas D.
        • et al.
        Human T cell gamma chain genes: OrganiOrganization.
        Science. 1986; 231: 252
        • Ravetch J.V.
        • Siebenlist U.
        • Korsmeyer S.
        • et al.
        Structure of the human immunoglobulinlocus: Characterization of embryonic and rearranged J and D regions.
        Cell. 1981; 27: 583
        • Saiki R.K.
        • Gelfand D.H.
        • Stoffel S.
        • et al.
        Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.
        Science. 1988; 239: 487
        • Shima E.
        • LeBeau M.M.
        • McKeithan T.W.
        • et al.
        Gene encoding the alpha chain of the T-cell receptor is moved immediately downstream of c-myc in a chromosome 8; 14 translocation in a cell line from a human T-cell leukemia.
        Proc Natl Acad Sci USA. 1986; 83: 3439
        • Sim G.K.
        • Yagüe J.
        • Nelson J.
        • et al.
        Primary structure of human T-cell receptor alphachain.
        Nature. 1984; 312: 771
        • Southern E.M.
        Detection of specific sequences among DNA fragments separated by gel electrophoresis.
        J Mol Biol. 1975; 98: 503
        • Strominger J.L.
        Developmental biology of T cell receptors.
        Science. 1989; 244: 943
        • Strominger J.L.
        The gamma/delta T cell receptor and class lb MHC-related proteins: Enigmatic molecules of immune recognition.
        Cell. 1989; 57: 895
        • Tkachuk D.C.
        • Griesser H.
        • Takihara Y.
        • et al.
        Rearrangement of T-cell locus in lymphoproliferative disorders.
        Blood. 1988; 72: 353
        • Toyonaga B.
        • Mak T.W.
        Genes of the T-cell antigen receptor in normal and malignant T cells.
        Annu Rev Immunol. 1987; 5: 585
        • Tsujimoto Y.
        • Cossman J.
        • Jaffe E.
        • et al.
        Involvement of the bcl-2 gene in human follicular lymphoma.
        Science. 1985; 228: 1440
        • Tsujimoto Y.
        • Gorham J.
        • Cossman J.
        • et al.
        The t(14;18) chromosome translocations involved in B cell neoplasms result from mistakes in VDJ joining.
        Science. 1984; 229: 1390
        • Uppenkamp M.
        • Pittaluga S.
        • Lipford E.
        • et al.
        Limited diversity and selection of rear ranged gamma genes in polyclonal T cells.
        J Immunol. 1987; 138: 1618
        • Waldmann T.A.
        • Davis M.M.
        • Bongiovanni K.F.
        • et al.
        Rearrangements of genes for the antigen receptor on T cells as markers of lineage and clonality in human lymphoid neoplasms.
        N Engl J Med. 1985; 313: 776
        • Weiss L.M.
        • Warnke R.A.
        • Sklar J.
        • et al.
        Molecular analysis of the t(14;18) chromosomal translocation in malignant lymphomas.
        N Engl J Med. 1987; 317: 1185
        • Weiss L.M.
        • Wood G.S.
        • Trela M.
        • et al.
        Clonal T-cell populations in lymphomatoid papulosis.
        N Engl J Med. 1986; 315: 475
        • Winoto A.
        • Baltimore D.
        Separate lineages of T cells expressing the alpha/beta and gamma/delta receptors.
        Nature. 1989; 338: 430
        • Wood G.S.
        • Weiss L.M.
        • Hu C-H
        • et al.
        T-cell antigen deficiencies and clonal rearrange ments of T-cell receptor genes in pagetoid reticulosis (Woringer-Kolopp disease).
        N Engl J Med. 1988; 318: 164
      1. Yamada M, Hudson S, Tournay O, et al: Detection of minimal disease in hematopoietic malignancies of the B cell lineage using complementarity determinant region III (CDR III)-specific probes. Proc Natl Acad Sci, in press

        • Yancopoulos G.D.
        • Blackwell T.K.
        • Suh H.
        • et al.
        Introduced T-cell receptor variable region gene segments recombine in pre-B cells: Evidence that B and T cells use a common recombinase.
        Cell. 1986; 44: 251
        • Yoshikai Y.
        • Anatoniou D.
        • Clark S.P.
        • et al.
        Sequence and expression of transcripts of the human T cell receptor B-chain genes.
        Nature. 1984; 312: 521