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

doi:10.14740/jh1132

An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1

J Hematol. 2023 Jun;12(3):118-122. doi: 10.14740/jh1132. Epub 2023 Jun 30.

Authors

Lisa-Maj Christensen¹, Marianne Tang Severinsen^{1

2}, Pragya Katoch³, Andreas Kiesbye Ovlisen^{1

2}, Thor Hoyer¹, Paw Jensen¹, Karen Dybkaer^{1

2}, Daniel Tuyet Kristensen^{1

2}

Affiliations

¹ Department of Hematology, Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.
² Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
³ Department of Pathology, Aalborg University Hospital, Denmark.

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.

Keywords: Aggressive course of splenic diffuse red pulp small B-cell lymphoma; CN loss of CDKN2A and CDKN2B; RB1; Splenic diffuse red pulp small B-cell lymphoma.

Publication types

Case Reports