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An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1
Lisa-Maj Christensen
, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet Kristensen
, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet KristensenAbstract
Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is an extremely rare B-cell lymphoma. The disease is typically indolent and treatment with splenectomy usually results in durable remissions. Here, we present a case of an extremely aggressive course of SDRPL with transformation to diffuse large B-cell lymphoma and multiple relapses immediately following cessation of immunochemotherapy. We provide results from whole-exome sequencing from debut of SDRPL and from following transformed stages and identified a novel somatic mutation in RB1 as the possible driver of this aggressive disease, which has not been reported earlier in SDRPL.
J Hematol. 2023;12(3):118-122
doi: https://doi.org/10.14740/jh1132
Keywords
Splenic diffuse red pulp small B-cell lymphoma; Aggressive course of splenic diffuse red pulp small B-cell lymphoma; RB1; CN loss of CDKN2A and CDKN2B