{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Leung E"],"funding":["NCI NIH HHS"],"pagination":["4467-4476"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12376075"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["103(11)"],"pubmed_abstract":["Recent advances in Rosai-Dorfman-Destombes disease (RDD), notably molecular testing, targeted therapy, and PET-CT imaging, hold promise for better recognition and improved outcomes. This study presents patients diagnosed and treated in a \"real world\" setting, where navigating limited resources must be considered. This retrospective single-center review includes 15 adult patients diagnosed with RDD at Vancouver General Hospital between November 2015 and October 2023. The cohort comprised five males and ten females with a median age 53 years (range 19-80 years). All 15 patients had extra-nodal disease; 11 patients exclusively had extra-nodal disease, and four patients also had lymph node involvement. Seven patients had tissue next-generation sequencing, identifying MAP2K1 mutations in four cases and a KRAS p.K117N mutation in one case that was treated with targeted therapy using trametinib. PET-CT was used for disease staging in four cases. Six patients with refractory disease tolerated lenalidomide and dexamethasone without significant toxicity; three patients achieved complete response, and three had partial response. This study highlights RDD's diverse extra-nodal manifestations. Lenalidomide combined with dexamethasone is an effective and well-tolerated treatment option for select patients, especially those with refractory disease. Broad utilization of NGS and PET-CT can positively influence management decisions."],"journal":["Annals of hematology"],"pubmed_title":["Rosai-Dorfman-Destombes disease in adults: a single center experience."],"pmcid":["PMC12376075"],"funding_grant_id":["P30 CA008748","R37 CA259260"],"pubmed_authors":["Diamond EL","You XJ","Harrison R","Carruthers M","Skinnider BF","Varghese J","Ng T","Peterson E","Chen LYC","Slack GW","Leung E","Dutz J","Young S","Tsang PWK","Stubbins R","Lim H","Pryma C","Burrell S","Murphy S"],"additional_accession":[]},"is_claimable":false,"name":"Rosai-Dorfman-Destombes disease in adults: a single center experience.","description":"Recent advances in Rosai-Dorfman-Destombes disease (RDD), notably molecular testing, targeted therapy, and PET-CT imaging, hold promise for better recognition and improved outcomes. This study presents patients diagnosed and treated in a \"real world\" setting, where navigating limited resources must be considered. This retrospective single-center review includes 15 adult patients diagnosed with RDD at Vancouver General Hospital between November 2015 and October 2023. The cohort comprised five males and ten females with a median age 53 years (range 19-80 years). All 15 patients had extra-nodal disease; 11 patients exclusively had extra-nodal disease, and four patients also had lymph node involvement. Seven patients had tissue next-generation sequencing, identifying MAP2K1 mutations in four cases and a KRAS p.K117N mutation in one case that was treated with targeted therapy using trametinib. PET-CT was used for disease staging in four cases. Six patients with refractory disease tolerated lenalidomide and dexamethasone without significant toxicity; three patients achieved complete response, and three had partial response. This study highlights RDD's diverse extra-nodal manifestations. Lenalidomide combined with dexamethasone is an effective and well-tolerated treatment option for select patients, especially those with refractory disease. Broad utilization of NGS and PET-CT can positively influence management decisions.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-05-08T06:46:39.917Z","creation":"2026-04-07T23:30:31.181Z"},"accession":"S-EPMC12376075","cross_references":{"pubmed":["39331156"],"doi":["10.1007/s00277-024-06019-w"]}}