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

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.

Originalsprog	Engelsk
Tidsskrift	Journal of Hematology
Vol/bind	12
Udgave nummer	3
Sider (fra-til)	118-122
Antal sider	5
ISSN	1927-1212
DOI	https://doi.org/10.14740/jh1132
Status	Udgivet - jun. 2023

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10.14740/jh1132Licens: CC BY-NC 4.0

Christensen et al. (2023). An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1Forlagets udgivne version, 2,12 MBLicens: CC BY-NC 4.0

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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.",

author = "Lisa-Maj Christensen and Severinsen, {Marianne Tang} and Pragya Katoch and Ovlisen, {Andreas Kiesbye} and Thor Hoyer and Paw Jensen and Karen Dybkaer and Kristensen, {Daniel Tuyet}",

year = "2023",

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doi = "10.14740/jh1132",

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AU - Severinsen, Marianne Tang

AU - Katoch, Pragya

AU - Ovlisen, Andreas Kiesbye

AU - Hoyer, Thor

AU - Jensen, Paw

AU - Dybkaer, Karen

AU - Kristensen, Daniel Tuyet

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N2 - 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.

AB - 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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JO - Journal of Hematology

JF - Journal of Hematology

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ER -

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

Abstract

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