Whole-genome Sequencing of Angioimmunoblastic T-Cell Lymphoma Combined With Plasma Cell Leukemia: A Case Report and Review of the Literature

Purpose Angioimmunoblastic T-cell lymphoma (AITL) is a distinct subtype of peripheral T-cell lymphomas, sometimes involves proliferation of plasma cells. Currently, only 7 cases of AITL with monoclonal plasmacytosis have been reported. However, the molecular mechanisms underlying the interaction between monoclonal plasma cells and T cells have not been identified. We describe a rare case of AITL with plasma cell leukemia (PCL) in this report. Methods The patient was a 67-year-old female diagnosed with AITL and PCL. CD138 positive plasma cells and CD138-negative mixed bone marrow populations of this patient were collected for whole-genome sequencing (WGS). A review of the literature on AITL cases with monoclonal plasma cells is presented.Results WGS showed that the two cell populatoins shared 282 non-synonymous single nucleotide variants (SNVs) and excess of G to A and C to T transitions. We identified 14 potential driver genes in this patient. Functional enriched analysis of mutant genes confirmed several significantly enriched pathways, including VEGF signaling. The patient was treated with one cycle of PD (combined Bortezomib and Dexamethasone) and Chidamide. However, the patient developed severe pneumonia and pancytopenia, refused to receive further treatment, and died one week after discharge. Conclusion Being aware of the coexistence of PCL and AITL is important for accurate diagnosis and appropriate treatment. In addition, our results suggested the involvement of a group of genes and pathways in AITL with coexisting PCL, providing valuable information for further exploration of the underlying molecular mechanisms.