Mutational profile and pathological features of a case of interleukin-10 and RGS1-positive spindle cCell variant diffuse large B-Cell lymphoma

Carreras, Joaquim; Kikuti, Yara Yukie; Miyaoka, Masashi; Hiraiwa, Shinichiro; Tomita, Sakura; Ikoma, Haruka; Kondo, Yusuke; Ito, Atsushi; Nagase, Shunsuke; Miura, Hisanobu; Roncador, Giovanna; Colomo Saperas, Luis Alberto; Hamoudi, Rifat; Campo, Elias; Nakamura, Naoya

doi:http://dx.doi.org/10.3390/hematolrep15010020

Mutational profile and pathological features of a case of interleukin-10 and RGS1-positive spindle cCell variant diffuse large B-Cell lymphoma

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Carreras J, Kikuti YY, Miyaoka M, Hiraiwa S, Tomita S, Ikoma H, et al. Mutational profile and pathological features of a case of interleukin-10 and RGS1-positive spindle cCell variant diffuse large B-Cell lymphoma. Hematol Rep. 2023 Mar 12;15(1):188-200. DOI: 10.3390/hematolrep15010020

Abstract

Diffuse large B-cell lymphoma with spindle cell morphology is a rare variant. We present the case of a 74-year-old male who initially presented with a right supraclavicular (lymph) node enlargement. Histological analysis showed a proliferation of spindle-shaped cells with narrow cytoplasms. An immunohistochemical panel was used to exclude other tumors, such as melanoma, carcinoma, and sarcoma. The lymphoma was characterized by a cell-of-origin subtype of germinal center B-cell-like (GCB) based on Hans' classifier (CD10-negative, BCL6-positive, and MUM1-negative); EBER negativity, and the absence of BCL2, BCL6, and MYC rearrangements. Mutational profiling using a custom panel of 168 genes associated with aggressive B-cell lymphomas confirmed mutations in ACTB, ARID1B, DUSP2, DTX1, HLA-B, PTEN, and TNFRSF14. Based on the LymphGen 1.0 classification tool, this case had an ST2 subtype prediction. The immune microenvironment was characterized by moderate infiltration of M2-like tumor-associated macrophages (TMAs) with positivity of CD163, CSF1R, CD85A (LILRB3), and PD-L1; moderate PD-1 positive T cells, and low FOXP3 regulatory T lymphocytes (Tregs). Immunohistochemical expression of PTX3 and TNFRSF14 was absent. Interestingly, the lymphoma cells were positive for HLA-DP-DR, IL-10, and RGS1, which are markers associated with poor prognosis in DLBCL. The patient was treated with R-CHOP therapy, and achieved a metabolically complete response.