{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T21:16:56Z","timestamp":1694121416925},"reference-count":20,"publisher":"Medical Journals Sweden AB","license":[{"start":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T00:00:00Z","timestamp":1693094400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["SJU"],"abstract":"<jats:p>Purpose: To describe the epidemiologic, clinical, histopathological, and genetic features of primary mucosalmelanoma of the urinary tract in a national Danish cohort with cases included from the year 1990 to2019.Material and methods: Patients of the Danish cohort were found using national databases. Only primarytumours were included in the cohort. Appropriate formalin-fixed paraffin-embedded blocks underwentnext-generation sequencing.Results: Eight cases of primary urinary bladder melanomas and 18 cases of primary urethral melanomaswere included. Bladder melanomas had an incidence of 0.05 cases\/million\/year. Mean age at diagnosis was67 years. The most frequent primary treatment was cystectomy. Adjuvant treatment was given in threecases and consisted of chemotherapy or radiotherapy. Mutations were found in the NF1, KRAS, ATRX, TP53,RAC1, and BRAF genes. Urethral melanomas were found to have an incidence of 0.12 cases\/million\/year.Average age at diagnosis was 77 years. The most frequent treatment was excision of the tumour. Adjuvanttreatment was given in nine cases and most frequently consisted of radiotherapy. Mutations were found inthe NF1, TERT PROMOTOR, NRAS, ATRX, TP53, ATM, TSC2, and CREBBP genes. The 5-year survival of patientswith bladder melanoma was 12.5% and 22.2% for patients with urethral melanoma.Conclusion: Our study highlights the rarity of urinary tract melanomas and their poor prognosis. The mostwidely used treatment for urogenital mucosal melanoma remains surgical while adjuvant therapy strategiesare evolving. Next-generation sequencing showed mutational patterns with no location-specific patterns.The most frequent mutations were in the NF1, ATRX, NRAS, and TP53 genes.<\/jats:p>","DOI":"10.2340\/sju.v58.8489","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T06:40:39Z","timestamp":1693204839000},"page":"52-59","source":"Crossref","is-referenced-by-count":0,"title":["Primary mucosal melanomas of the urogenital tract: a clinical, pathological, and genetic nationwide survey of Danish patients 1990\u20132019"],"prefix":"10.2340","volume":"58","author":[{"given":"Victoria K.","family":"Znaider","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauge H.","family":"Mikkelsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian Fuglesang S.","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"S\u00f8nksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Heegaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1183","published-online":{"date-parts":[[2023,8,27]]},"reference":[{"key":"37694","doi-asserted-by":"crossref","unstructured":"Chang AE, Karnell LH, Menck HR. The National Cancer Data Base report on cutaneous and noncutaneous melanoma: a summary of 84,836 cases from the past decade. The American College of Surgeons Commission on Cancer and the American Cancer Society. Cancer. 1998;83(8):1664\u201378. https:\/\/doi.org\/10.1002\/(SICI)1097-0142(19981015)83:8<1664::AID-CNCR23>3.0.CO;2-G","DOI":"10.1002\/(SICI)1097-0142(19981015)83:8<1664::AID-CNCR23>3.0.CO;2-G"},{"key":"37695","doi-asserted-by":"crossref","unstructured":"Mikkelsen LH, Larsen AC, von Buchwald C, et al. Mucosal malignant melanoma \u2013 a clinical, oncological, pathological and genetic survey. APMIS. 2016;124(6):475\u201386. https:\/\/doi.org\/10.1111\/apm.12529","DOI":"10.1111\/apm.12529"},{"key":"37696","doi-asserted-by":"crossref","unstructured":"Mikkelsen LH, Heegaard S. Mucosal Melanoma. In: Riker A, editor. Melanoma. Cham: Springer; 2018. https:\/\/doi.org\/10.1007\/978-3-319-78310-9_15","DOI":"10.1007\/978-3-319-78310-9_15"},{"key":"37697","doi-asserted-by":"crossref","unstructured":"Newell F, Kong Y, Wilmott JS, et al. Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. Nat Commun. 2019;10(1):3163. https:\/\/doi.org\/10.1038\/s41467-019-11107-x","DOI":"10.1038\/s41467-019-11107-x"},{"key":"37698","doi-asserted-by":"crossref","unstructured":"Mundra PA, Dhomen N, Rodrigues M, et al. Ultraviolet radiation drives mutations in a subset of mucosal melanomas. Nat Commun. 2021;12(1):1\u20137. https:\/\/doi.org\/10.1038\/s41467-020-20432-5","DOI":"10.1038\/s41467-020-20432-5"},{"key":"37699","doi-asserted-by":"crossref","unstructured":"Piura B. Management of primary melanoma of the female urogenital tract. Lancet Oncol. 2008;9(10):973\u201381. https:\/\/doi.org\/10.1016\/S1470-2045(08)70254-7","DOI":"10.1016\/S1470-2045(08)70254-7"},{"key":"37700","doi-asserted-by":"crossref","unstructured":"McLaughlin CC, Wu XC, Jemal A, et al. Incidence of noncutaneous melanomas in the U.S. Cancer. 2005;103(5):1000\u20137. https:\/\/doi.org\/10.1002\/cncr.20866","DOI":"10.1002\/cncr.20866"},{"key":"37701","doi-asserted-by":"crossref","unstructured":"Nguyen AT, Kavolius JP, Russo P, et al. Primary genitourinary melanoma. Urology. 2001;57(4):633\u20138. https:\/\/doi.org\/10.1016\/S0090-4295(00)01107-9","DOI":"10.1016\/S0090-4295(00)01107-9"},{"key":"37702","doi-asserted-by":"crossref","unstructured":"El-Safadi S, Estel R, Mayser P, et al. Primary malignant melanoma of the urethra: a systematic analysis of the current literature. Arch Gynecol Obstet. 2014;289(5):935\u201343. https:\/\/doi.org\/10.1007\/s00404-013-3130-3","DOI":"10.1007\/s00404-013-3130-3"},{"key":"37703","doi-asserted-by":"crossref","unstructured":"Barillaro F, Camilli M, Dessanti P, et al. Primary melanoma of the bladder: case report and review of the literature. Arch Ital Urol Androl. 2018;90(3):224\u20136. https:\/\/doi.org\/10.4081\/aiua.2018.3.224","DOI":"10.4081\/aiua.2018.3.224"},{"key":"37704","doi-asserted-by":"crossref","unstructured":"Tingsgaard JK, Henriksen A, Mikkelsen LH, et al. Primary and secondary mucosal melanoma of the small intestine \u2013 a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014. J Pathol Microbiol Immunol. 2018;126(9):739\u201345. https:\/\/doi.org\/10.1111\/apm.12883","DOI":"10.1111\/apm.12883"},{"key":"37705","doi-asserted-by":"crossref","unstructured":"Larsen AC. Conjunctival malignant melanoma in Denmark. Epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile. Acta Ophthalmol. 2016;94(8):842. https:\/\/doi.org\/10.1111\/aos.13207","DOI":"10.1111\/aos.13207"},{"key":"37706","doi-asserted-by":"crossref","unstructured":"Lawaetz M, Birch-Johansen F, Friis S, et al. Primary mucosal melanoma of the head and neck in Denmark, 1982\u20132012: demographic and clinical aspects. A retrospective DAHANCA study. Acta Oncol (Madr). 2016;55(8):1001\u20138. https:\/\/doi.org\/10.3109\/0284186X.2016.1143117","DOI":"10.3109\/0284186X.2016.1143117"},{"key":"37707","doi-asserted-by":"crossref","unstructured":"Pandey PK, Vijay MK, Goel H, et al. Primary malignant melanoma of female urethra: a rare neoplasm. J Cancer Res Ther. 2014;10(3):758\u201360. https:\/\/doi.org\/10.4103\/0973-1482.136027","DOI":"10.4103\/0973-1482.136027"},{"key":"37708","doi-asserted-by":"crossref","unstructured":"Oliva E, Quinn TR, Amin MB, et al. Primary malignant melanoma of the urethra a clinicopathologic analysis of 15 cases. Am J Surg Pathol. 2000;24(6):785\u201396. https:\/\/doi.org\/10.1097\/00000478-200006000-00003","DOI":"10.1097\/00000478-200006000-00003"},{"key":"37709","doi-asserted-by":"crossref","unstructured":"Dimarco DS, Dimarco CS, Zincke H, et al. Outcome of surgical treatment for primary malignant melanoma of the female urethra. J Urol. 2004;171(2 I):765\u20137. https:\/\/doi.org\/10.1097\/01.ju.0000104671.20863.47","DOI":"10.1097\/01.ju.0000104671.20863.47"},{"key":"37710","doi-asserted-by":"crossref","unstructured":"Hori T, Kato T, Komiya A, et al. Primary melanoma of the urinary bladder identified by urine cytology: a rare case report. Diagn Cytopathol. 2014;42(12):1091\u20135. https:\/\/doi.org\/10.1002\/dc.23074","DOI":"10.1002\/dc.23074"},{"key":"37711","doi-asserted-by":"crossref","unstructured":"Pape\u0161 D, Altarac S, Arslani N, et al. Melanoma of the glans penis and urethra. Urology. 2014;83(1):6\u201311. https:\/\/doi.org\/10.1016\/j.urology.2013.07.009","DOI":"10.1016\/j.urology.2013.07.009"},{"key":"37712","doi-asserted-by":"crossref","unstructured":"Heppt MV, Roesch A, Weide B, et al. Prognostic factors and treatment outcomes in 444 patients with mucosal melanoma. Eur J Cancer. 2017;81:36\u201344. https:\/\/doi.org\/10.1016\/j.ejca.2017.05.014","DOI":"10.1016\/j.ejca.2017.05.014"},{"key":"37713","doi-asserted-by":"crossref","unstructured":"Zhu H, Dong D, Li F, et al. Clinicopathologic features and prognostic factors in patients with non-cutaneous malignant melanoma: a single-center retrospective study of 71 cases. Int J Dermatol. 2015;54(12):1390\u20135. https:\/\/doi.org\/10.1111\/ijd.12745","DOI":"10.1111\/ijd.12745"}],"container-title":["Scandinavian Journal of Urology"],"original-title":[],"link":[{"URL":"https:\/\/medicaljournalssweden.se\/SJU\/article\/download\/8489\/22326","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/medicaljournalssweden.se\/SJU\/article\/download\/8489\/22474","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/medicaljournalssweden.se\/SJU\/article\/download\/8489\/22475","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/medicaljournalssweden.se\/SJU\/article\/download\/8489\/22326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T06:47:13Z","timestamp":1693810033000},"score":1,"resource":{"primary":{"URL":"https:\/\/medicaljournalssweden.se\/SJU\/article\/view\/8489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,27]]},"references-count":20,"URL":"https:\/\/doi.org\/10.2340\/sju.v58.8489","relation":{},"ISSN":["2168-1813","2168-1805"],"issn-type":[{"value":"2168-1813","type":"electronic"},{"value":"2168-1805","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8,27]]}}}