Lisa-Maj Christensen, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet Kristensen
{"title":"转化性脾弥漫性红髓小b细胞淋巴瘤伴新的RB1体细胞功能丧失突变的侵袭过程。","authors":"Lisa-Maj Christensen, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet Kristensen","doi":"10.14740/jh1132","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>RB1</i> as the possible driver of this aggressive disease, which has not been reported earlier in SDRPL.</p>","PeriodicalId":15964,"journal":{"name":"Journal of hematology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7b/a2/jh-12-118.PMC10332862.pdf","citationCount":"0","resultStr":"{\"title\":\"An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in <i>RB1</i>.\",\"authors\":\"Lisa-Maj Christensen, Marianne Tang Severinsen, Pragya Katoch, Andreas Kiesbye Ovlisen, Thor Hoyer, Paw Jensen, Karen Dybkaer, Daniel Tuyet Kristensen\",\"doi\":\"10.14740/jh1132\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>RB1</i> as the possible driver of this aggressive disease, which has not been reported earlier in SDRPL.</p>\",\"PeriodicalId\":15964,\"journal\":{\"name\":\"Journal of hematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7b/a2/jh-12-118.PMC10332862.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14740/jh1132\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14740/jh1132","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
An Aggressive Course of Transformed Splenic Diffuse Red Pulp Small B-Cell Lymphoma With Novel Somatic Loss-of-Function Mutation in RB1.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
