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Additionally, germline <jats:italic>SMARCB1<\/jats:italic> PVs have been identified in patients with conditions as clinically diverse as Rhabdoid Tumour Predisposition Syndrome type 1 (RTPS1), schwannomatosis and neurodevelopmental disorders such as Coffin-Siris syndrome (CSS). RTPS1 is characterized by the occurrence of highly malignant atypical teratoid rhabdoid tumours (AT\/RT) affecting mostly infants, whereas <jats:italic>SMARCB1<\/jats:italic>-related schwannomatosis is generally diagnosed after the age of 30 and is characterized by benign schwannomas. Patients with germline <jats:italic>SMARCB1<\/jats:italic> PVs and neurodevelopmental disorders do not usually develop <jats:italic>SMARCB1<\/jats:italic>-deficient tumours but instead exhibit severe intellectual disability and congenital malformations. It is intriguing how germline <jats:italic>SMARCB1<\/jats:italic> PVs can be responsible for these very different pathologies. However, a network of different factors has emerged that play important roles in this context. Thus, the tumour phenotype associated with germline <jats:italic>SMARCB1<\/jats:italic> PVs is determined by the nature and location of the <jats:italic>SMARCB1<\/jats:italic> mutation and the timing of <jats:italic>SMARCB1<\/jats:italic> inactivation in specific progenitor cells. Biallelic complete loss of SMARCB1 function during a narrow time window of early embryonic development in neural crest cells is essential for AT\/RT development. By contrast, hypomorphic <jats:italic>SMARCB1<\/jats:italic> PVs during later developmental stages affecting more differentiated Schwann cell precursors give rise to schwannomas. However, the loss of the wild-type <jats:italic>SMARCB1<\/jats:italic> allele is insufficient for schwannoma growth which appears to be dependent upon concomitant somatic <jats:italic>NF2<\/jats:italic> PVs in patients with <jats:italic>SMARCB1<\/jats:italic>-related schwannomatosis according to the four-hit\/three-step model of tumorigenesis. In patients with neurodevelopmental disorders such as CSS, germline PVs would appear to cluster within the C-terminal <jats:italic>SMARCB1<\/jats:italic> domain, interfering with the nucleosomal interactions of SMARCB1 but not with its tumour suppressor activity.<\/jats:p>","DOI":"10.1007\/s10689-025-00486-4","type":"journal-article","created":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T08:49:23Z","timestamp":1754988563000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis"],"prefix":"10.1007","volume":"24","author":[{"given":"Hildegard","family":"Kehrer-Sawatzki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,8,12]]},"reference":[{"key":"486_CR1","doi-asserted-by":"publisher","first-page":"2002","DOI":"10.1126\/science.7801128","volume":"266","author":"GV Kalpana","year":"1994","unstructured":"Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (1994) Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. 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