Clinical Value of Gene Copy Number Variation Detection in Peripheral Blood in the Diagnosis and Treatment of Lymphoma

Objective To investigate the consistency between the results of gene copy number variation (CNA) in peripheral blood and bone marrow or tissue samples of lymphoma patients with curative and its clinical value in diagnosis and treatment.

Methods A total of 5 patients with lymphoma were selected. Case 1 was diffuse large B-cell lymphoma (DLBCL) without bone marrow invasion. Tissue samples and peripheral blood samples were collected at the same time point before treatment. Case 2 was high-grade B-cell lymphoma (HGBL) stage IV, tissue samples were collected before treatment at the initial diagnosis and peripheral blood samples were collected after treatment. Case 3 was DLBCLIV, tissue samples were collected at initial diagnosis and peripheral blood samples were collected during remission after treatment. Case 4 was DLBCL-IV B stage. Peripheral blood samples were collected before treatment at initial diagnosis and bone marrow samples were collected during remission after treatment. Case 5 was a case of hepatosplenic T-cell lymphoma (HSTL). Tissue samples before treatment and peripheral blood samples after treatment were collected at initial diagnosis and analyzed in combination with clinical efficacy.

Results 2p -, 2q-, 3p-, 4p -, 6q-, 9p+, 10q-, 11q+, 19p + and 19q+ chromosome abnormalities were detected in the tissues and peripheral blood CNA of case 1, and the 3p -, 6q-, 9p +, 11q+ and 19q+ abnormalities were consistent. In case 2, 4p -, 9P +, 9p-, 16p+, 16q- and +X gene variants were detected in peripheral blood CNA than in tissue CNA at initial diagnosis. In case 3, obvious abnormal signals were detected in tissues at initial diagnosis, but no abnormal signals were detected in peripheral blood samples during remission. In case 4, obvious abnormal signals were detected in peripheral blood at initial diagnosis, but no abnormal signals were detected in bone marrow during remission. In case 5, obvious abnormal signals were detected in tissues at initial diagnosis, and a small amount of abnormal signals were detected in peripheral blood after treatment. The results of CNA detection in 5 patients were consistent with the clinical efficacy. All 3 DLBCL patients showed 6q-chromosome abnormalities in CNA test before treatment.

Conclusion The results of CNA detection in peripheral blood are consistent with those in tissue and bone marrow. The dynamic monitoring results of in peripheral blood CNA can be used as a basis for monitoring the curative effect of lymphoma.

No relevant conflicts of interest to declare.