{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T15:51:08Z","timestamp":1780933868900,"version":"3.54.1"},"reference-count":28,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Primary intracranial melanoma is a very rare brain tumor, especially when accompanied by benign intramedullary melanocytoma. Distinguishing between a primary central nervous system (CNS) lesion and metastatic melanoma is extremely difficult, especially when the primary cutaneous lesion is not visible. Here we report a 13-year-old girl admitted to the Neurosurgery Department of the Institute of Polish Mother\u2019s Health Centre in Lodz due to upper limb paresis. An intramedullary tumor of the cervical C3\u2013C4 and an accompanying syringomyelic cavity C1\u2013C7 were revealed. The child underwent partial removal of the tumor due to the risk of damage to spinal cord motor centers. The removed part of the tumor was diagnosed as melanocytoma. Eight months later, a neurological examination revealed paresis of the right sixth cranial nerve, accompanied by bilateral optic disc edema. Diagnostic imaging revealed a brain tumor. The girl underwent resection of both detected the tumors and an additional satellite lesion revealed during the surgery. The removed tumors were diagnosed as malignant melanomas in pathomorphological examination. Molecular analysis revealed NRASQ61K mutation in both the intracranial and the intramedullary tumor. It should be noted that in cases where available evidence is inconclusive, an integrative diagnostic process is essential to reach a definitive diagnosis.<\/jats:p>","DOI":"10.3390\/ijms25179628","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T06:44:29Z","timestamp":1725518669000},"page":"9628","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A 13-Year-Old Girl Affected by Melanocytic Tumors of the Central Nervous System\u2014The Case"],"prefix":"10.3390","volume":"25","author":[{"given":"Emilia","family":"Nowos\u0142awska","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Institute of Polish Mother\u2019s Health Centre in Lodz, Rzgowska 281\/289, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Zakrzewska","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Sikorska","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Zakrzewski","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Medical University of Lodz, Kosciuszki 4, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bartosz","family":"Polis","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Institute of Polish Mother\u2019s Health Centre in Lodz, Rzgowska 281\/289, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1007\/s00247-018-4205-x","article-title":"New insights into neurocutaneous melanosis","volume":"48","author":"Jakchairoongruang","year":"2018","journal-title":"Pediatr. Radiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1007\/s00381-018-3851-5","article-title":"Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: Case-based update","volume":"34","author":"Sharouf","year":"2018","journal-title":"Childs Nerv. Syst."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/j.1440-1789.2010.01160.x","article-title":"Malignant transformation of intracranial meningeal melanocytoma. Case report and review of the literature","volume":"31","author":"Wang","year":"2011","journal-title":"Neuropathology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"472","DOI":"10.3322\/caac.21409","article-title":"Melanoma staging: Evidence-based changes in the American Joint Committee on Cancer Eighth Edition Cancer Staging Manual","volume":"67","author":"Gershenwald","year":"2017","journal-title":"CA Cancer J. Clin."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1007\/s00701-015-2427-3","article-title":"Primary pineal malignant melanoma with B-Raf V600E mutation: A case report and brief review of the literature","volume":"157","author":"Jetschke","year":"2015","journal-title":"Acta Neurochir."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1111\/bjd.15301","article-title":"Melanoma in congenital melanocytic naevi","volume":"176","author":"Kinsler","year":"2017","journal-title":"Br. J. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1093\/neuonc\/noab106","article-title":"The 2021 WHO Classification of Tumors of the Central Nervous System: A summary","volume":"23","author":"Louis","year":"2021","journal-title":"Neuro-oncology"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Riker, A.I., Enkemann, S.A., Fodstad, O., Liu, S., Ren, S., Morris, C., Xi, Y., Howell, P., Metge, B., and Samant, R.S. (2008). The gene expression profiles of primary and metastatic melanoma yields a transition point of tumor progression and metastasis. BMC Med. Genomics, 1.","DOI":"10.1186\/1755-8794-1-13"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Rizzo, A., Vasco, C., Girgenti, V., Fugnanesi, V., Caratozzolo, C., Canazza, A., Salmaggi, A., Rivoltini, L., Morbin, M., and Ciusani, E. (2015). Melanoma Cells Homing to the Brain: An In Vitro Model. Biomed. Res. Int., 2015.","DOI":"10.1155\/2015\/476069"},{"key":"ref_10","unstructured":"WHO Classifiation of Tumour Editorial Board (2021). Central Nervous System Tumours, 5th, ed., Interantional Agency of Research on Cancer."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"54","DOI":"10.5826\/dpc.0901a13","article-title":"BRAF mutation status in primary, recurrent, and metastatic malignant melanoma and its relation to histopathological parameters","volume":"9","author":"Spathis","year":"2019","journal-title":"Dermatol. Pract. Concept."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/pin.12107","article-title":"Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach","volume":"63","author":"Cornejo","year":"2013","journal-title":"Pathol. Int."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"35","DOI":"10.31689\/rmm.2019.26.1.35","article-title":"Primary versus secondary central nervous system melanoma: A diagnostic dilemma and report of a case","volume":"26","author":"Lefter","year":"2019","journal-title":"Mod. Med."},{"key":"ref_14","first-page":"87","article-title":"A rare case of primary malignant melanoma in brain","volume":"6","author":"Mansuriya","year":"2019","journal-title":"IAIM"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e5805","DOI":"10.1097\/MD.0000000000005805","article-title":"Primary cerebral malignant melanoma A case report with literature review","volume":"96","author":"Tang","year":"2017","journal-title":"Medicine"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1186\/s12957-016-0965-7","article-title":"Primary cerebral malignant melanoma in insular region with extracranial metastasis: Case report and review literature","volume":"14","year":"2016","journal-title":"World J. Surg. Oncol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"39","DOI":"10.4103\/1793-5482.151508","article-title":"Primary intracranial malignant melanoma: A rare Case with review of literature","volume":"10","author":"Suranagi","year":"2015","journal-title":"Asian J. Neurosurg."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s10014-018-0328-x","article-title":"NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called \u201cforme fruste\u201d of neurocutaneous melanosis","volume":"35","author":"Girolami","year":"2018","journal-title":"Brain Tumor Pathol."},{"key":"ref_19","first-page":"185","article-title":"Primary intracranial solitary melanoma: A rare case with long survival","volume":"36","author":"Selek","year":"2006","journal-title":"Turk. J. Cancer"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1055\/s-0039-1697559","article-title":"Primary spinal cord melanoma of intradural extramedullary origin","volume":"10","author":"Sharma","year":"2019","journal-title":"Neurosci. Rural Pract."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1186\/s12885-016-2556-y","article-title":"NRASQ61K mutated primary leptomeningeal melanoma in a child: Case presentation and discussion on clinical and diagnostic implications","volume":"16","author":"Angelino","year":"2016","journal-title":"BMC Cancer"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"van Engen-van Grunsven, A.C.H., Kusters-Vandevelde, H., Groenen, P.J.T.A., and Blokx, W.A.M. (2014). Update on molecular pathology of cutaneous melanocytic lesions: What is new in diagnosis and molecular testing for treatment?. Front. Med., 1.","DOI":"10.3389\/fmed.2014.00039"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1590\/0100-3984.2015.0128","article-title":"Neurocutaneous melanosis","volume":"49","author":"Moreira","year":"2016","journal-title":"Radiol. Bras."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"43","DOI":"10.4161\/cc.23108","article-title":"Mosaic RASopathies","volume":"12","author":"Hafner","year":"2013","journal-title":"Cell Cycle"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1365-2990.2012.01288.x","article-title":"GNA11 and N-RAS mutations: Alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous syst","volume":"39","author":"Gessi","year":"2013","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_26","first-page":"471","article-title":"BRAF mutation in progression and therapy of melanoma, papillary thyroid carcinoma and colorectal adenocarcinoma","volume":"70","author":"Hartman","year":"2016","journal-title":"Adv. Hyg. Exp. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1111\/nan.12138","article-title":"Absence of TERT promoter mutations in primary melanocytic tumours of the central nervous system","volume":"40","author":"Gessi","year":"2014","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1007\/s00381-015-2741-3","article-title":"Primary atypical melanocytoma arising from the cavern sinus in a child","volume":"31","author":"Lee","year":"2015","journal-title":"Childs Nerv. Syst."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/17\/9628\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:49:09Z","timestamp":1760111349000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/17\/9628"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,5]]},"references-count":28,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["ijms25179628"],"URL":"https:\/\/doi.org\/10.3390\/ijms25179628","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,5]]}}}