SMARCA4-associated schwannomatosis.

This would be analogous to cases where a I SMARCB1 i germline variant was reported to lead to malignant rhabdoid tumours and schwannomas within the same family or in the same person [[8]] and to a case where a nonsense I SMARCA4 i germline variant caused SCCOHT and CSS simultaneously in a young girl [[4]]. Biallelic I SMARCA4 i inactivation is known to cause small cell carcinoma of the ovary (hypercalcemic type) (SCCOHT) and more rarely, atypical teratoid/rhabdoid tumours (ATRT) [[1]]. Keywords: Schwannomatosis; SMARCA4; SWI/SNF; BRG1; Chromosome 22q EN Schwannomatosis SMARCA4 SWI/SNF BRG1 Chromosome 22q 505 507 3 03/21/23 20230401 NES 230401 Supplementary Information The online version contains supplementary material available at https://doi.org/10.1007/s00401-023-02546-4. (i-iii) show BRG1, INI1 and double staining with both BRG1 and INI1 of the same field in the daughter's schwannoma (400X), respectively; in (iii) (double stain), cells appear to be either INI1 + and BRG1- (brown) or INI1- and BRG1 + (red), (iv-vii) show mosaic loss of BRG1 (in 80-90% of tumour) and mosaic retention of INI1 (in 10-20% of tumour) in the daughter's schwannoma (200X) (iv-v) and in one of the mother's schwannomas (200X) (vi-vii). b LOH analysis of Chr19 and Chr22 in all tumour samples via ExomeAI. [Extracted from the article]