Lisa-Maj Christensen, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet Kristensen
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Abstract
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.
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