{"created":"2023-06-19T10:44:06.503323+00:00","id":4490,"links":{},"metadata":{"_buckets":{"deposit":"e4caad4d-eaf8-4ecc-b80f-7fca98091354"},"_deposit":{"created_by":11,"id":"4490","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"4490"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00004490","sets":["30:68:267"]},"author_link":["9386","8873","9385","8877","9218"],"item_4_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-04-03","bibliographicIssueDateType":"Issued"},"bibliographic_titles":[{},{"bibliographic_title":"International Journal of Hematology","bibliographic_titleLang":"en"}]}]},"item_4_creator_3":{"attribute_name":"著者別名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"坂本, 謙一"}],"nameIdentifiers":[{},{}]}]},"item_4_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Langerhans cell histiocytosis-associated neurodegenerative disease (LCH-ND) is the most serious late complication secondary to LCH and is gradually progressive, destructive, and irreversible. Detection of the BRAF V600E mutation in peripheral blood mononuclear cells (PBMCs), even in the absence of active LCH lesions, is considered a sign of clinical LCH-ND, presenting with both abnormal imaging findings and neurological symptoms. However, the detection of the BRAF V600E mutation in PBMCs of patients with asymptomatic radiological LCH-ND (rLCH-ND) without active LCH lesions who present only with abnormal imaging findings is unknown. In this study, we analyzed the BRAF V600E mutations in PBMCs and cell-free DNA (cfDNA) of patients with rLCH-ND without active LCH lesions (n = 5) using a droplet digital polymerase chain reaction (ddPCR) assay. The BRAF V600E mutation in PBMCs was detected in three out of five (60%) cases. The mutant allele frequencies in the three positive cases were 0.049%, 0.027%, and 0.015%, respectively. However, the cfDNA BRAF V600E mutation remained undetected in all patients. Detection of the BRAF V600E mutant allele in PBMCs may be helpful in identifying asymptomatic rLCH-ND in patients at high risk for developing LCH-ND, including those with relapses at CNS risk sites or central diabetes insipidus. ","subitem_description_type":"Abstract"}]},"item_4_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Journal Article","subitem_description_type":"Other"}]},"item_4_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Springer Nature"}]},"item_4_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"37010809","subitem_relation_type_select":"PMID"}}]},"item_4_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1007/s12185-023-03588-w"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1007/s12185-023-03588-w","subitem_relation_type_select":"DOI"}}]},"item_4_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2023. Japanese Society of Hematology. "}]},"item_4_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0925-5710","subitem_source_identifier_type":"ISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"SHIMIZU, Soichiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"SAKAMOTO, Kenichi"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"KUDO, Ko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"MORIMOTO, Akira"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"SHIODA, Yoko"}],"nameIdentifiers":[{},{}]}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Langerhans cell histiocytosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"BRAF V600E","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Neurodegenerative disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Digital droplet PCR","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis-associated neurodegenerative disease using droplet digital PCR analysis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis-associated neurodegenerative disease using droplet digital PCR analysis"}]},"item_type_id":"4","owner":"11","path":["267"],"pubdate":{"attribute_name":"公開日","attribute_value":"2023-05-24"},"publish_date":"2023-05-24","publish_status":"0","recid":"4490","relation_version_is_last":true,"title":["Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis-associated neurodegenerative disease using droplet digital PCR analysis"],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-06-19T11:06:35.997955+00:00"}