{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T22:33:39Z","timestamp":1769726019793,"version":"3.49.0"},"reference-count":56,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"11","license":[{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurosurg Case Lessons"],"published-print":{"date-parts":[[2025,9,15]]},"abstract":"\n BACKGROUND<\/jats:title>\n Primary melanoma in the spine is a rare tumor characterized by lack of primary dermal or uveal lesions. The infrequency of this tumor significantly obfuscates both its diagnosis and treatment.<\/jats:p>\n <\/jats:sec>\n \n OBSERVATIONS<\/jats:title>\n \n The authors describe the case of a 74-year-old male who presented with back pain, lower extremity weakness, and numbness. MRI revealed a contrast-enhancing intradural, extramedullary lesion at T11\u201312 with a hypointense signal on T2-weighted imaging. The patient underwent resection of the lesion. The diagnosis of primary spinal melanoma was confirmed by histopathology, immunohistochemical studies, and lack of primary lesions on dermatological and ophthalmological examination. Next-generation sequencing also revealed a guanine-nucleotide binding protein (\n GNAQ<\/jats:italic>\n ) mutation.\n <\/jats:p>\n <\/jats:sec>\n \n LESSONS<\/jats:title>\n \n The authors present a potential mechanism of primary spinal melanoma tumorigenesis associated with\n GNAQ<\/jats:italic>\n .\n GNAQ<\/jats:italic>\n mutations lead to abnormal \u03b2-catenin activation in neural crest cells, resulting in differentiation into melanoblasts and migration to the spinal cord. Over time,\n GNAQ<\/jats:italic>\n mutations can lead to aberrant proliferation of ectopic melanocytes due to downstream activation of the\n RAS<\/jats:italic>\n \/\n RAF<\/jats:italic>\n signaling pathway. Understanding this pathomechanism and its role in primary CNS melanoma may provide a route for potential targeted therapy.\n <\/jats:p>\n \n https:\/\/thejns.org\/doi\/10.3171\/CASE25183<\/jats:ext-link>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/case25183","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T00:26:33Z","timestamp":1758587193000},"source":"Crossref","is-referenced-by-count":0,"title":["GNAQ mutation in primary spinal melanoma: illustrative case"],"prefix":"10.3171","volume":"10","author":[{"given":"Cristina","family":"Hayes Meizoso","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery, University of Massachusetts Chan Medical School, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janelle P.","family":"Renterghem","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Massachusetts Chan Medical School, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance J.","family":"Mietus","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Massachusetts Chan Medical School, Worcester, Massachusetts"},{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3695-3173","authenticated-orcid":true,"given":"Brittany","family":"Owusu-Adjei","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Massachusetts Chan Medical School, Worcester, Massachusetts"},{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas W.","family":"Smith","sequence":"additional","affiliation":[{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"},{"name":"Department of Pathology, University of Massachusetts Chan Medical School, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cachia","sequence":"additional","affiliation":[{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"},{"name":"Division of Hematology and Oncology, University of Massachusetts Chan Medical School, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6441-4083","authenticated-orcid":true,"given":"Ali","family":"Tasneem","sequence":"additional","affiliation":[{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"},{"name":"Division of Hematology and Oncology, University of Massachusetts Chan Medical School, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arno S.","family":"Sungarian","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Massachusetts Chan Medical School, Worcester, Massachusetts"},{"name":"University of Massachusetts Memorial Health Center, Worcester, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"6","key":"bib1","series-title":"J Neurol Neurosurg Psychiatry","first-page":"526","article-title":"Malignant melanoma and the central nervous system. 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J Korean Neurosurg Soc. 2010;48(2):157-161."},{"issue":"1","key":"bib4","series-title":"J Cancer Allied Spec","first-page":"513","article-title":"A rare case of primary malignant melanoma of cervical spine having extramedullary intradural origin: a single case report and literature review","volume":"10","author":"Haider","year":"2024","unstructured":"Haider IKhan SQamar FUInam YGul KRana IA.A rare case of primary malignant melanoma of cervical spine having extramedullary intradural origin: a single case report and literature review. J Cancer Allied Spec. 2024;10(1):513."},{"issue":"2","key":"bib5","series-title":"BJR Case Rep","first-page":"uaaf020","article-title":"Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components\u2014a case report","volume":"11","author":"Bardsley","year":"2025","unstructured":"Bardsley RHKimber JMcCullagh K.Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components\u2014a case report. BJR Case Rep. 2025;11(2):uaaf020."},{"issue":"10","key":"bib6","series-title":"J Int Med Res","first-page":"300060520966152","article-title":"Primary intramedullary malignant melanoma: can imaging lead to the correct diagnosis?","volume":"48","author":"Corr\u00eaa","year":"2020","unstructured":"Corr\u00eaa DGDos Santos RQHygino da Cruz LCJr.Primary intramedullary malignant melanoma: can imaging lead to the correct diagnosis? J Int Med Res. 2020;48(10):300060520966152."},{"issue":"20","key":"bib7","series-title":"J Neurosurg Case Lessons","first-page":"CASE21542","article-title":"Primary spinal melanoma: illustrative case","volume":"2","author":"House","year":"2021","unstructured":"House HArcher JBradbury J.Primary spinal melanoma: illustrative case. J Neurosurg Case Lessons. 2021;2(20):CASE21542."},{"issue":"8","key":"bib8","series-title":"J Clin Neurosci","first-page":"1014","article-title":"The diagnostic dilemma of primary central nervous system melanoma","volume":"17","author":"Wadasadawala","year":"2010","unstructured":"Wadasadawala TTrivedi SGupta TEpari SJalali R.The diagnostic dilemma of primary central nervous system melanoma. J Clin Neurosci. 2010;17(8):1014-1017."},{"issue":"4","key":"bib9","series-title":"Clin Imaging","first-page":"273","article-title":"MRI features of a primary thoracic epidural melanoma: a case report","volume":"31","author":"Unal","year":"2007","unstructured":"Unal BCastillo M.MRI features of a primary thoracic epidural melanoma: a case report. 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Acta Neuropathol. 2010;119(3):317-323."},{"issue":"13","key":"bib17","series-title":"Cancers (Basel)","first-page":"3066","article-title":"GNAQ and GNA11 genes: a comprehensive review on oncogenesis, prognosis and therapeutic opportunities in uveal melanoma","volume":"14","author":"Silva-Rodr\u00edguez","year":"2022","unstructured":"Silva-Rodr\u00edguez PFern\u00e1ndez-D\u00edaz DBande MPardo MLoidi LBlanco-Teijeiro MJ.GNAQ and GNA11 genes: a comprehensive review on oncogenesis, prognosis and therapeutic opportunities in uveal melanoma. Cancers (Basel). 2022;14(13):3066."},{"key":"bib18","series-title":"Front Genet","first-page":"59","article-title":"Gnaq and Gna11 in the endothelin signaling pathway and melanoma","volume":"7","author":"Urtatiz","year":"2016","unstructured":"Urtatiz OVan Raamsdonk CD.Gnaq and Gna11 in the endothelin signaling pathway and melanoma. 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World Neurosurg. 2018;114:408-420."},{"issue":"1","key":"bib25","series-title":"Sci J Neurol Neurosurg","first-page":"7","article-title":"Intradural intramedullary primary spinal melanoma: a case report and review of the literature","volume":"5","author":"Majeed","year":"2019","unstructured":"Majeed KHHussainIPisapia DJIntradural intramedullary primary spinal melanoma: a case report and review of the literature. Sci J Neurol Neurosurg. 2019;5(1):7."},{"issue":"3","key":"bib26","series-title":"Pigment Cell Melanoma Res","first-page":"458","article-title":"Genomic analysis reveals low tumor mutation burden which may be associated with GNAQ\/11 alteration in a series of primary leptomeningeal melanomas","volume":"33","author":"Fortin Ensign","year":"2020","unstructured":"Fortin Ensign SBollin KMillis SZHinds BRKosty MUchiyama C.Genomic analysis reveals low tumor mutation burden which may be associated with GNAQ\/11 alteration in a series of primary leptomeningeal melanomas. Pigment Cell Melanoma Res. 2020;33(3):458-465."},{"issue":"1","key":"bib27","series-title":"Diagn Pathol","first-page":"54","article-title":"Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature","volume":"19","author":"Kapoor","year":"2024","unstructured":"Kapoor RMehta ASharma ANathany SDiwan HBansal D.Extradural spinal melanoma: is it primary or metastatic? A case report with a brief review of literature. Diagn Pathol. 2024;19(1):54."},{"key":"bib28","series-title":"Front Oncol","first-page":"852260","article-title":"Wnt\/beta-catenin inhibition by CWP232291 as a novel therapeutic strategy in ovarian cancer","volume":"12","author":"Wang","year":"2022","unstructured":"Wang WCho UYoo AWnt\/beta-catenin inhibition by CWP232291 as a novel therapeutic strategy in ovarian cancer. Front Oncol. 2022;12:852260."},{"issue":"6","key":"bib1","series-title":"J Neurol Neurosurg Psychiatry","first-page":"526","article-title":"Malignant melanoma and the central nervous system. A guide for classification based on the clinical findings","volume":"39","author":"Hayward","year":"1976","unstructured":"Hayward RD.Malignant melanoma and the central nervous system. A guide for classification based on the clinical findings. J Neurol Neurosurg Psychiatry. 1976;39(6):526-530."},{"issue":"6","key":"bib2","series-title":"Pigment Cell Melanoma Res","first-page":"627","article-title":"Melanoma central nervous system metastases: current approaches, challenges, and opportunities","volume":"29","author":"Cohen","year":"2016","unstructured":"Cohen JVTawbi HMargolin KAMelanoma central nervous system metastases: current approaches, challenges, and opportunities. Pigment Cell Melanoma Res. 2016;29(6):627-642."},{"issue":"2","key":"bib3","series-title":"J Korean Neurosurg Soc","first-page":"157","article-title":"Primary spinal cord melanoma","volume":"48","author":"Kim","year":"2010","unstructured":"Kim MSYoon DHShin DA.Primary spinal cord melanoma. J Korean Neurosurg Soc. 2010;48(2):157-161."},{"issue":"1","key":"bib4","series-title":"J Cancer Allied Spec","first-page":"513","article-title":"A rare case of primary malignant melanoma of cervical spine having extramedullary intradural origin: a single case report and literature review","volume":"10","author":"Haider","year":"2024","unstructured":"Haider IKhan SQamar FUInam YGul KRana IA.A rare case of primary malignant melanoma of cervical spine having extramedullary intradural origin: a single case report and literature review. J Cancer Allied Spec. 2024;10(1):513."},{"issue":"2","key":"bib5","series-title":"BJR Case Rep","first-page":"uaaf020","article-title":"Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components\u2014a case report","volume":"11","author":"Bardsley","year":"2025","unstructured":"Bardsley RHKimber JMcCullagh K.Primary spinal meningeal melanoma with intramedullary and intradural extramedullary components\u2014a case report. BJR Case Rep. 2025;11(2):uaaf020."},{"issue":"10","key":"bib6","series-title":"J Int Med Res","first-page":"300060520966152","article-title":"Primary intramedullary malignant melanoma: can imaging lead to the correct diagnosis?","volume":"48","author":"Corr\u00eaa","year":"2020","unstructured":"Corr\u00eaa DGDos Santos RQHygino da Cruz LCJr.Primary intramedullary malignant melanoma: can imaging lead to the correct diagnosis? J Int Med Res. 2020;48(10):300060520966152."},{"issue":"20","key":"bib7","series-title":"J Neurosurg Case Lessons","first-page":"CASE21542","article-title":"Primary spinal melanoma: illustrative case","volume":"2","author":"House","year":"2021","unstructured":"House HArcher JBradbury J.Primary spinal melanoma: illustrative case. J Neurosurg Case Lessons. 2021;2(20):CASE21542."},{"issue":"8","key":"bib8","series-title":"J Clin Neurosci","first-page":"1014","article-title":"The diagnostic dilemma of primary central nervous system melanoma","volume":"17","author":"Wadasadawala","year":"2010","unstructured":"Wadasadawala TTrivedi SGupta TEpari SJalali R.The diagnostic dilemma of primary central nervous system melanoma. 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