TY - JOUR
T1 - An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1
AU - Christensen, Lisa-Maj
AU - Severinsen, Marianne Tang
AU - Katoch, Pragya
AU - Ovlisen, Andreas Kiesbye
AU - Hoyer, Thor
AU - Jensen, Paw
AU - Dybkaer, Karen
AU - Kristensen, Daniel Tuyet
N1 - Copyright 2023, Christensen et al.
PY - 2023/6
Y1 - 2023/6
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.
U2 - 10.14740/jh1132
DO - 10.14740/jh1132
M3 - Journal article
C2 - 37435411
SN - 1927-1212
VL - 12
SP - 118
EP - 122
JO - Journal of Hematology
JF - Journal of Hematology
IS - 3
ER -