T-cell receptor gene rearrangements and the diagnosis of human T-cell neoplasms

Crit Rev Oncol Hematol. 1990;10(3):267-81. doi: 10.1016/1040-8428(90)90035-q.


The rearranging antigen receptor genes of lymphoid cells serve as unique clonal markers of lymphoid neoplasms. Gene rearrangement analysis is a highly sensitive and reproducible tool which is useful in the diagnosis and classification of malignant lymphoma/leukemia. Although clonality can often be determined among B cell neoplasms by virtue of immunoglobulin isotype analysis, no such phenotypic marker of clonality exists for T cells. Therefore, clonality of T lymphoproliferative processes is most readily determined by rearrangement analysis of the T cell antigen receptor genes. The alpha, beta, gamma, and delta genes of the T cell receptor gene family encode heterodimeric surface antigen receptors and undergo rearrangement early in T cell differentiation. Identification of rearrangement of T cell antigen receptor genes provides valuable diagnostic information concerning cellular lineage, clonality and classification of T cell neoplasms. This molecular approach is applicable to the diagnosis of occult disease, relapse, and resolution of diagnostic dilemmas in any type of tissue sample including fluids and needle aspirations.

Publication types

  • Review

MeSH terms

  • Gene Rearrangement, T-Lymphocyte / genetics*
  • Genome, Human
  • Humans
  • Leukemia, T-Cell / diagnosis
  • Leukemia, T-Cell / genetics*
  • Lymphoma, T-Cell / diagnosis
  • Lymphoma, T-Cell / genetics*
  • Lymphoproliferative Disorders / genetics
  • Receptors, Antigen, T-Cell / chemistry
  • Receptors, Antigen, T-Cell / genetics
  • Receptors, Antigen, T-Cell / physiology


  • Receptors, Antigen, T-Cell