{"id":"https://openalex.org/W2762295231","doi":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","title":"Detection of the NRAS Q61R mutation in Erdheim-Chester disease.","display_name":"Detection of the NRAS Q61R mutation in Erdheim-Chester disease.","publication_year":2013,"publication_date":"2013-05-20","ids":{"openalex":"https://openalex.org/W2762295231","doi":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","mag":"2762295231"},"language":"en","primary_location":{"id":"doi:10.1200/jco.2013.31.15_suppl.7120","doi":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082806411","display_name":"Eli L. Diamond","orcid":"https://orcid.org/0000-0001-5456-5961","observed_orcids":["https://orcid.org/0000-0001-5456-5961"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eli L. Diamond","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009476786","display_name":"Elena I. Pentsova","orcid":"https://orcid.org/0000-0001-5854-0251","observed_orcids":["https://orcid.org/0000-0001-5854-0251"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elena Pentsova","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072807465","display_name":"Laetitia A Borsu","orcid":"https://orcid.org/0000-0003-1603-630X","observed_orcids":["https://orcid.org/0000-0003-1603-630X"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laetitia Borsu","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057884333","display_name":"April Chiu","orcid":"https://orcid.org/0000-0002-6431-2666","observed_orcids":["https://orcid.org/0000-0002-6431-2666"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"April E. Chiu","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068193017","display_name":"David Michael Hyman","orcid":"https://orcid.org/0000-0001-8150-9762","observed_orcids":["https://orcid.org/0000-0001-8150-9762"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Michael Hyman","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065795175","display_name":"Marc K. Rosenblum","orcid":"https://orcid.org/0000-0002-0530-0155","observed_orcids":["https://orcid.org/0000-0002-0530-0155"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marc Rosenblum","raw_affiliation_strings":["Memorial Sloan-Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan-Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1334819555"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"31","issue":"15_suppl","first_page":"7120","last_page":"7120"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11909","display_name":"Histiocytic Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11909","display_name":"Histiocytic Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11533","display_name":"Melanoma and MAPK Pathways","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/erdheim-chester-disease","display_name":"Erdheim-Chester disease","score":0.996999979019165},{"id":"https://openalex.org/keywords/nras-q61r-mutation","display_name":"NRAS Q61R mutation","score":0.996999979019165},{"id":"https://openalex.org/keywords/ras-mapk-pathway","display_name":"RAS/MAPK pathway","score":0.9079999923706055},{"id":"https://openalex.org/keywords/non-langerhans-cell-histiocytosis","display_name":"non-Langerhans cell histiocytosis","score":0.9259999990463257},{"id":"https://openalex.org/keywords/langerhans-cell-histiocytosis","display_name":"Langerhans cell histiocytosis","score":0.921999990940094},{"id":"https://openalex.org/keywords/braf-v600e-mutation","display_name":"BRAF V600E mutation","score":0.9269999861717224},{"id":"https://openalex.org/keywords/vemurafenib","display_name":"vemurafenib","score":0.9660000205039978},{"id":"https://openalex.org/keywords/targeted-therapy","display_name":"targeted therapy","score":0.7429999709129333},{"id":"https://openalex.org/keywords/histiocytic-infiltrate","display_name":"histiocytic infiltration","score":0.6069999933242798},{"id":"https://openalex.org/keywords/renal-mass","display_name":"renal mass","score":0.6940000057220459}],"concepts":[{"id":"https://openalex.org/C2779945361","wikidata":"https://www.wikidata.org/wiki/Q1349259","display_name":"Erdheim\u2013Chester disease","level":4,"score":0.9222375154495239},{"id":"https://openalex.org/C21790070","wikidata":"https://www.wikidata.org/wiki/Q18030215","display_name":"Neuroblastoma RAS viral oncogene homolog","level":5,"score":0.914631724357605},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8198081254959106},{"id":"https://openalex.org/C2776131300","wikidata":"https://www.wikidata.org/wiki/Q423111","display_name":"Vemurafenib","level":4,"score":0.7447477579116821},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5791893601417542},{"id":"https://openalex.org/C2777484599","wikidata":"https://www.wikidata.org/wiki/Q374036","display_name":"Langerhans cell histiocytosis","level":3,"score":0.5779936909675598},{"id":"https://openalex.org/C1167327","wikidata":"https://www.wikidata.org/wiki/Q14884140","display_name":"HRAS","level":5,"score":0.5680927038192749},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5228652954101562},{"id":"https://openalex.org/C2780174970","wikidata":"https://www.wikidata.org/wiki/Q1411740","display_name":"Histiocytosis","level":3,"score":0.5084206461906433},{"id":"https://openalex.org/C2776470698","wikidata":"https://www.wikidata.org/wiki/Q21851559","display_name":"V600E","level":4,"score":0.46928510069847107},{"id":"https://openalex.org/C57074206","wikidata":"https://www.wikidata.org/wiki/Q14197552","display_name":"MAPK/ERK pathway","level":3,"score":0.43995437026023865},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4395417869091034},{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.33816957473754883},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.24680274724960327},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.22012364864349365},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21928182244300842},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.14329609274864197},{"id":"https://openalex.org/C2781187634","wikidata":"https://www.wikidata.org/wiki/Q20969980","display_name":"KRAS","level":4,"score":0.10653173923492432},{"id":"https://openalex.org/C2994587330","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Metastatic melanoma","level":3,"score":0.09833991527557373},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09607842564582825},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07224011421203613},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1200/jco.2013.31.15_suppl.7120","doi":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2013.31.15_suppl.7120","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2095514651","https://openalex.org/W4405800528","https://openalex.org/W2027620575","https://openalex.org/W2265721511","https://openalex.org/W2120899685","https://openalex.org/W3019984223","https://openalex.org/W4319456577","https://openalex.org/W1861522694","https://openalex.org/W4387520710","https://openalex.org/W3008994477"],"abstract_inverted_index":{"7120":[0],"Background:":[1],"There":[2],"is":[3,191,211],"a":[4,36,72,78,124,128],"high":[5],"frequency":[6],"of":[7,12,52,86,118,123,137,147,154,168,177,195,204],"activating":[8,170],"mutations":[9],"in":[10,16,34,71,99,105,114,173,182,207],"proteins":[11],"the":[13,57,100,106,115,119,141,148,155,165,186,196,202],"Ras/Raf/MEK/ERK":[14,197],"pathway":[15,206],"melanoma":[17],"and":[18,56,68,88,108,110,209,213],"other":[19],"solid":[20],"tumors.":[21],"The":[22,175],"BRAF":[23,58,149],"V600E":[24,59,150],"mutation":[25,60,151,172,181],"has":[26,63],"been":[27,64],"found":[28,93],"recently":[29],"to":[30,94,162],"be":[31],"highly":[32],"prevalent":[33],"ECD,":[35],"rare":[37],"non-Langerhans":[38],"cell":[39,48],"histiocytosis":[40,49],"with":[41,54,61,66,134,140],"poor":[42],"prognosis,":[43],"as":[44,46],"well":[45],"Langerhans":[47],"(LCH).":[50],"Treatment":[51],"patients":[53],"ECD":[55,183,208],"vemurafenib":[62],"associated":[65],"unprecedented":[67],"dramatic":[69],"response":[70],"few":[73],"cases.":[74],"Methods:":[75],"We":[76],"present":[77],"66":[79],"year-old":[80],"man":[81],"evaluated":[82],"for":[83,218,221],"several":[84],"months":[85],"cognitive":[87],"motor":[89],"decline.":[90],"He":[91],"was":[92],"have":[95],"multifocal":[96],"enhancing":[97],"lesions":[98],"cerebral":[101],"meninges,":[102],"multiple":[103],"masses":[104],"abdomen":[107],"sacrum,":[109],"abnormal":[111],"nuclear":[112],"uptake":[113],"long":[116],"bones":[117],"legs.":[120],"Results:":[121],"Biopsy":[122],"renal":[125],"mass":[126],"demonstrated":[127,145],"foamy":[129],"CD68+/CD1a-":[130],"histiocytic":[131],"infiltrate,":[132],"consistent":[133],"ECD.":[135,174],"Interrogation":[136],"tumor":[138],"tissue":[139],"Sequenom":[142],"MassArray":[143],"system":[144],"absence":[146],"but":[152],"presence":[153],"NRAS":[156,171,180],"Q61R":[157],"mutation.":[158],"Conclusions:":[159],"This":[160],"is,":[161],"our":[163],"knowledge,":[164],"first":[166],"report":[167],"an":[169,178],"finding":[176],"oncogenic":[179],"further":[184],"supports":[185],"hypothesis":[187],"that":[188],"this":[189,205],"disease":[190],"driven":[192],"by":[193],"activation":[194],"pathway.":[198],"Further":[199],"investigation":[200],"into":[201],"role":[203],"LCH":[210],"warranted":[212],"may":[214],"open":[215],"new":[216],"opportunities":[217],"targeted":[219],"therapies":[220],"these":[222],"disorders.":[223]},"counts_by_year":[{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2017-10-20T00:00:00"}
