Objective: In small intestinal malignant lymphoma (SIML), the correlation between specific chromosomal abnormalities and clinicopathological features remains unclear. The aim of this study was to determine the frequency of chromosomal translocations involving the BCL1, BCL2, c-MYC, BCL6 and MALT1 genes by using fluorescence in situ hybridization directly on paraffin-embedded tissue sections (tissue-FISH).
Material and methods: Twenty-six cases diagnosed as having SIML between 1996 and 2003 were the subjects of the clinicopathological investigation conducted in this study. Tissue-FISH was performed with specific probes on paraffin-embedded tissue sections as described previously.
Results: The primary site was frequently located at the duodenum (9 cases, 35%). In accordance with the World Health Organization classification, 14 (53%) cases were diagnosed as having diffuse large B-cell lymphoma (DLBCL) and 6 (23%) as marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT). Macroscopically, DLBCL and MALT lymphoma displayed various macroscopic features. Cytogenetically, IGH-BCL2 translocation was detected in 3 (21%) out of 14 DLBCL cases, but in none of the MALT lymphomas. BCL6 translocation was detected in 5 (35%) of 14 DLBCL cases and in 1 (17%) of 6 MALT lymphoma cases (17%). API2-MALT1 translocation was detected in 1 (7%) of 14 DLBCL cases and in 1 (17%) of 6 MALT lymphoma cases.
Conclusions: The duodenum was preferentially involved in SIML. DLBCL and MALT lymphoma showed various macroscopic features. Tissue-FISH analysis disclosed that DLBCL is cytogenetically heterogeneous. Furthermore, our study validated tissue-FISH as an additional promising diagnostic tool for detecting specific chromosomal translocations in NHL.