Immunoglobulin and T-cell receptor gene rearrangements in lesions of mucosa-associated lymphoid tissue

Diagn Mol Pathol. 1993 Dec;2(4):233-40.


Twenty-one cases of mucosa-associated lymphoid tissue (MALT) lesions have been analyzed by Southern blot for immunoglobulin heavy chain (IgH) and T-cell receptor beta chain (TcR beta) gene rearrangements (GR). The sites included colon, stomach, liver, nasopharynx, salivary and lacrimal gland, conjunctiva, tonsil, breast, and lung. Two of the lesions (parotid and conjunctiva) were malignant lymphomas and one case showed lymphoproliferative disorder. In the cases of malignant lymphomas, IgH GR were detected, and in the case of lymphoproliferative disorder, both IgH and TcR beta genes were rearranged. Among the remaining 18 cases, 9 showed inflammatory infiltrate, 3 lymphoid hyperplasia, 3 atypical lymphoid hyperplasia, 1 carcinoma of the tonsil, 1 breast carcinoma, and one was a sample of normal Peyer's patches. Among these 18 cases, 3 showed TcR beta GR, 6 showed double IgH and TcR beta GR, and 4 IgH GR. Often multiple rearranged bands were observed, composing 10-30% of the total DNA analyzed. The control tissue (Peyer's patches) showed no GR. Because IgH and TcR beta GR are used to determine monoclonal proliferations of T and B lymphocytes, which occur in malignant lymphomas, it is vital to determine the specificity of such a test. This report stresses the fact that in MALT lesions false-positive results are not uncommon and therefore the results of IgH and TcR beta GR studies have to be interpreted with caution. The presence of multiple GR in the inflammatory lesions indicates proliferation of minor monoclonal populations that can be detected with the use of Southern blot technology.

Publication types

  • Comparative Study

MeSH terms

  • Blotting, Southern
  • Breast Neoplasms / chemistry
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology
  • Carcinoma, Squamous Cell / genetics
  • Colonic Neoplasms / chemistry
  • Colonic Neoplasms / genetics
  • Colonic Neoplasms / pathology
  • Conjunctival Neoplasms / chemistry
  • Conjunctival Neoplasms / genetics*
  • Conjunctival Neoplasms / pathology*
  • DNA / analysis
  • DNA / genetics
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • False Positive Reactions
  • Gene Rearrangement
  • Gene Rearrangement, B-Lymphocyte, Heavy Chain / genetics
  • Gene Rearrangement, beta-Chain T-Cell Antigen Receptor / genetics
  • Humans
  • Liver Neoplasms / chemistry
  • Liver Neoplasms / genetics
  • Liver Neoplasms / pathology
  • Lung Neoplasms / chemistry
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology
  • Lymphoid Tissue / chemistry
  • Lymphoid Tissue / pathology*
  • Lymphoma / chemistry
  • Lymphoma / genetics*
  • Lymphoma / pathology*
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / pathology*
  • Mucous Membrane / chemistry
  • Mucous Membrane / pathology
  • Parotid Neoplasms / chemistry
  • Parotid Neoplasms / genetics*
  • Parotid Neoplasms / pathology*
  • Peyer's Patches / chemistry
  • Peyer's Patches / pathology
  • Receptors, Antigen, T-Cell / genetics*
  • Receptors, Immunologic / genetics*
  • Tonsillar Neoplasms / genetics


  • DNA, Neoplasm
  • Receptors, Antigen, T-Cell
  • Receptors, Immunologic
  • DNA