Refinement of lymphoma cytogenetics by the chromosome 18q21 major breakpoint region

E. Lipford, J. J. Wright, W. Urba, J. Whang-Peng, I. R. Kirsch, M. Raffeld, J. Cossman, D. L. Longo, A. Bakhshi, S. J. Korsmeyer

Research output: Contribution to journalArticlepeer-review

71 Citations (Scopus)


A small (2.8-kilobase, kb) major breakpoint region localized to segment 18q21 rearranges in >70% of t(14;18)(q32;q21) lymphomas. This rearrangement interrupts the Bcl-2 gene and introduces it into the Ig locus at 14q32. The rearrangement between the joining region (J(H)) of Ig on chromosome 14 and the 18q21 region creates a translocation-specific DNA rearrangement. We generated probes that distinguish the 14;18 juncture on the derivative (der) 14 and der (18) chromosomes, providing a molecular approach to t(14;18) identification. Approximately 60% of unselected follicular lymphomas, 20% of diffuse large cell lymphomas, and 50% of adult undifferentiated non-Burkitt lymphomas demonstrated 14;18 rearrangements within the major breakpoint region. Examination of DNA for 14;18 rearrangements resolved the identity of 14q+ chromosomes in two patient's cells that lacked an obvious reciprocal partner. Identification of the exact restriction fragments that mediate translocations complements routine cytogenetics. The detection of DNA rearrangements does not require dividing cells or the presence of an identifiable reciprocal partner and can detect clonal translocation rearrangements when the neoplastic cells are only a minority of all cells present.

Original languageEnglish
Pages (from-to)1816-1823
Number of pages8
Issue number6
Publication statusPublished - Dec 1 1987
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


Dive into the research topics of 'Refinement of lymphoma cytogenetics by the chromosome 18q21 major breakpoint region'. Together they form a unique fingerprint.

Cite this