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Germline\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    alterations. We report two cases of a previously undescribed intraocular malignancy that shared some features with UVM and RT, but was also distinct from these entities. Both female patients, aged 23 and 14\u2009years, underwent enucleation, and the tumours were subjected to comprehensive genomic, DNA methylation, and transcriptomic profiling. Pathological examination showed large, amelanotic intraocular tumours with epithelioid features, expressing melanocytic markers [S100P, SOX10, Melan\u2010A, PMEL (HMB45), TYR] as seen using immunohistochemistry (IHC), but with little or no melanin production. Both tumours harboured biallelic loss\u2010of\u2010function\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    alterations, associated with loss of SMARCB1 (BAF47\/INI1) expression on IHC. Their genomic profiles were atypical both for UVM and for RT, and no pathogenic variants were found in other genes tested, including those recurrently altered in UVM. In both patients, a germline\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    variant was found. However, there was no relevant family history of cancer. Transcriptome and methylome profiling suggested that these tumours were distinct from RT, UVM, and skin melanomas. RNAseq confirmed expression of early and late genes related to melanocytic differentiation. The first patient died of metastatic disease 16\u2009months after diagnosis, the second was disease\u2010free 10\u2009months after completion of treatment. In summary, we report two cases of a previously undescribed, aggressive\n                    <jats:italic>SMARCB1<\/jats:italic>\n                    \u2010deficient intraocular malignancy with melanocytic differentiation, which occurs in young patients, is distinct from UVM and RT, and expands the RTPS1 spectrum. \u00a9 2025 The Author(s).\n                    <jats:italic>The Journal of Pathology<\/jats:italic>\n                    published by John Wiley &amp; Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.\n                  <\/jats:p>","DOI":"10.1002\/path.6390","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:10:31Z","timestamp":1737677431000},"page":"357-371","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>\n                      <i>SMARCB1<\/i>\n                    <\/scp>\n                    \u2010deficient malignant melanocytic uveal tumours: a new neural crest\u2010derived tumour entity with\n                    <scp>\n                      <i>SMARCB1<\/i>\n                    <\/scp>\n                    \u2010related germline predisposition"],"prefix":"10.1002","volume":"265","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0216-5330","authenticated-orcid":false,"given":"Joanna","family":"Cyrta","sequence":"first","affiliation":[{"name":"Department of Pathology, Institut Curie PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Masliah\u2010Planchon","sequence":"additional","affiliation":[{"name":"Department of Genetics, Institut Curie PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen","family":"Hoare","sequence":"additional","affiliation":[{"name":"SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie Universit\u00e9 Paris 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