{"id":"https://openalex.org/W7225270100","doi":"https://doi.org/10.1093/jscr/rjag1006","title":"Primary anorectal melanoma with BRAF V600 wild-type status presenting with widespread metastases in a 29-year-old man: a case report","display_name":"Primary anorectal melanoma with BRAF V600 wild-type status presenting with widespread metastases in a 29-year-old man: a case report","publication_year":2026,"publication_date":"2026-11-01","ids":{"openalex":"https://openalex.org/W7225270100","doi":"https://doi.org/10.1093/jscr/rjag1006","pmid":"https://pubmed.ncbi.nlm.nih.gov/42984834","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13731239"},"language":"en","primary_location":{"id":"doi:10.1093/jscr/rjag1006","doi":"https://doi.org/10.1093/jscr/rjag1006","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jscr/rjag1006","pdf_url":"https://academic.oup.com/jscr/article-pdf/2026/11/rjag1006/72931837/rjag1006.pdf","source":{"id":"https://openalex.org/S4210198593","display_name":"Journal of Surgical Case Reports","issn_l":"2042-8812","issn":["2042-8812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Surgical Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/jscr/article-pdf/2026/11/rjag1006/72931837/rjag1006.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084352769","display_name":"Sarra Ben Rejeb","orcid":"https://orcid.org/0000-0001-9150-3444","observed_orcids":["https://orcid.org/0000-0001-9150-3444"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sarra Ben Rejeb","raw_affiliation_strings":["Pathology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":"https://orcid.org/0000-0001-9150-3444","affiliations":[{"raw_affiliation_string":"Pathology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139467703","display_name":"Yasmine Barbirou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Yasmine Barbirou","raw_affiliation_strings":["Pathology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pathology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148576439","display_name":"Rayhan Rejeb","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rayhan Rejeb","raw_affiliation_strings":["Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030280683","display_name":"Myriam Ayari","orcid":"https://orcid.org/0000-0001-7361-8248","observed_orcids":["https://orcid.org/0000-0001-7361-8248"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Myriam Ayari","raw_affiliation_strings":["Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065582916","display_name":"Sarra Ben Azouz","orcid":"https://orcid.org/0000-0002-9628-265X","observed_orcids":["https://orcid.org/0000-0002-9628-265X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sarah Ben Azouz","raw_affiliation_strings":["Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":"https://orcid.org/0000-0002-9628-265X","affiliations":[{"raw_affiliation_string":"Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020381027","display_name":"Taieb Jomni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Taieb Jomni","raw_affiliation_strings":["Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gastrology Department, Internal Security Forces Hospital , Rue Mohamed Fadhel Ben Achour, Marsa Safsaf, 2078 La Marsa ,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5139467703"],"corresponding_institution_ids":[],"apc_list":{"value":1000,"currency":"USD","value_usd":1000},"apc_paid":{"value":1000,"currency":"USD","value_usd":1000},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.83173168,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"11","first_page":"rjag1006","last_page":"rjag1006"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10392","display_name":"Cutaneous Melanoma Detection and Management","score":0.9634000062942505,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10392","display_name":"Cutaneous Melanoma Detection and Management","score":0.9634000062942505,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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":0.004999999888241291,"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"}},{"id":"https://openalex.org/T12379","display_name":"Cancer Diagnosis and Treatment","score":0.0031999999191612005,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/metastatic-melanoma","display_name":"metastatic melanoma","score":0.7149999737739563},{"id":"https://openalex.org/keywords/hematochezia","display_name":"hematochezia","score":0.843999981880188},{"id":"https://openalex.org/keywords/immunohistochemistry","display_name":"immunohistochemistry","score":0.6539999842643738},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.5640000104904175},{"id":"https://openalex.org/keywords/palliative-systemic-therapy","display_name":"palliative systemic therapy","score":0.7260000109672546},{"id":"https://openalex.org/keywords/mucosal-melanoma","display_name":"mucosal melanoma","score":0.578000009059906}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9315000176429749},{"id":"https://openalex.org/C520017518","wikidata":"https://www.wikidata.org/wiki/Q178934","display_name":"Occult","level":3,"score":0.722599983215332},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.6722999811172485},{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.6169000267982483},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5809000134468079},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.5626000165939331},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.353300005197525},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.35030001401901245},{"id":"https://openalex.org/C2781186586","wikidata":"https://www.wikidata.org/wiki/Q6931266","display_name":"Mucosal melanoma","level":3,"score":0.3422999978065491},{"id":"https://openalex.org/C2780635560","wikidata":"https://www.wikidata.org/wiki/Q1216998","display_name":"Neoplasm","level":2,"score":0.33970001339912415},{"id":"https://openalex.org/C2994587330","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Metastatic melanoma","level":3,"score":0.31049999594688416},{"id":"https://openalex.org/C2780283643","wikidata":"https://www.wikidata.org/wiki/Q2110267","display_name":"Primary tumor","level":4,"score":0.3093000054359436},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3005000054836273},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.28610000014305115},{"id":"https://openalex.org/C2780035688","wikidata":"https://www.wikidata.org/wiki/Q2465231","display_name":"Anal canal","level":3,"score":0.2831000089645386},{"id":"https://openalex.org/C2779973185","wikidata":"https://www.wikidata.org/wiki/Q497","display_name":"Anus","level":2,"score":0.2793999910354614},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25609999895095825}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1093/jscr/rjag1006","doi":"https://doi.org/10.1093/jscr/rjag1006","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jscr/rjag1006","pdf_url":"https://academic.oup.com/jscr/article-pdf/2026/11/rjag1006/72931837/rjag1006.pdf","source":{"id":"https://openalex.org/S4210198593","display_name":"Journal of Surgical Case Reports","issn_l":"2042-8812","issn":["2042-8812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Surgical Case Reports","raw_type":"journal-article"},{"id":"pmid:42984834","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42984834","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of surgical case reports","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:13731239","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13731239/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Surg Case Rep","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/jscr/rjag1006","doi":"https://doi.org/10.1093/jscr/rjag1006","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jscr/rjag1006","pdf_url":"https://academic.oup.com/jscr/article-pdf/2026/11/rjag1006/72931837/rjag1006.pdf","source":{"id":"https://openalex.org/S4210198593","display_name":"Journal of Surgical Case Reports","issn_l":"2042-8812","issn":["2042-8812"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Surgical Case Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225270100.pdf","grobid_xml":"https://content.openalex.org/works/W7225270100.grobid-xml"},"referenced_works_count":12,"referenced_works":["https://openalex.org/W2014099335","https://openalex.org/W2060862396","https://openalex.org/W2076697417","https://openalex.org/W2089963408","https://openalex.org/W2590948637","https://openalex.org/W3046655842","https://openalex.org/W3203595886","https://openalex.org/W4243082859","https://openalex.org/W4399871556","https://openalex.org/W4403096271","https://openalex.org/W4411121295","https://openalex.org/W4411300917"],"related_works":["https://openalex.org/W7156686678","https://openalex.org/W2954674989","https://openalex.org/W4414553989","https://openalex.org/W3118039991","https://openalex.org/W4413363008","https://openalex.org/W4411917934","https://openalex.org/W7204732818","https://openalex.org/W3013834245","https://openalex.org/W7216704917","https://openalex.org/W3046655842"],"abstract_inverted_index":{"Abstract":[0],"Primary":[1],"anorectal":[2],"malignant":[3],"melanoma":[4,120],"(ARMM)":[5],"is":[6,29],"a":[7,38,50,62],"rare":[8],"and":[9,31,45,94,134],"highly":[10],"aggressive":[11,112],"mucosal":[12],"neoplasm,":[13],"accounting":[14],"for":[15,121,137],"<1%":[16],"of":[17,131],"all":[18],"melanomas.":[19],"Typically":[20],"affecting":[21],"older":[22],"patients,":[23],"its":[24],"presentation":[25],"in":[26,124],"young":[27,125],"adults":[28],"uncommon":[30],"often":[32],"causes":[33],"diagnostic":[34],"delays.":[35],"We":[36],"report":[37],"29-year-old":[39],"man":[40],"presenting":[41],"with":[42,68],"hematochezia,":[43],"tenesmus,":[44],"post-defecatory":[46],"pain.":[47],"Proctoscopy":[48],"revealed":[49,88],"friable,":[51],"ulcerated,":[52],"hemi-circumferential":[53],"exophytic":[54],"mass":[55],"at":[56],"the":[57,116,128],"dentate":[58],"line.":[59],"Biopsy":[60],"demonstrated":[61],"high-grade,":[63],"undifferentiated,":[64],"extensively":[65],"necrotic":[66],"neoplasm":[67],"focal":[69,78],"intracytoplasmic":[70],"pigment.":[71],"Immunohistochemistry":[72],"confirmed":[73],"melanocytic":[74],"lineage":[75],"(diffuse":[76],"S100/SOX10;":[77],"HMB-45/Melan-A).":[79],"Molecular":[80],"analysis":[81],"identified":[82],"wild-type":[83],"BRAF":[84],"V600":[85],"status.":[86],"Staging":[87],"extensive":[89],"nodal,":[90],"pulmonary,":[91],"hepatic,":[92],"adrenal,":[93],"peritoneal":[95],"metastases;":[96],"occult":[97],"primary":[98],"sites":[99],"were":[100],"excluded.":[101],"The":[102],"patient":[103],"received":[104],"palliative":[105],"systemic":[106],"therapy.":[107],"This":[108],"case":[109],"underscores":[110],"ARMM\u2019s":[111],"clinical":[113],"course,":[114],"emphasizing":[115],"need":[117],"to":[118],"consider":[119],"undifferentiated":[122],"tumors":[123],"adults,":[126],"alongside":[127],"essential":[129],"role":[130],"comprehensive":[132],"immunohistochemical":[133],"molecular":[135],"profiling":[136],"accurate":[138],"diagnosis.":[139]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-11-05T00:00:00"}