부산대학교 도서관

This article discusses a rare form of tumor predisposition called atypical teratoid/rhabdoid tumor (ATRT) that arises in the setting of germline ring chromosome 22. ATRT is a type of embryonal neoplasm characterized by the inactivation of the SMARCB1 gene. Germline ring chromosome 22, although not directly affecting SMARCB1, can lead to somatic mosaicism for monosomy chromosome 22, increasing the risk of ATRT. The article presents two cases of ATRT associated with germline ring chromosome 22 and provides detailed molecular characterization of the tumors. It also highlights the potential clinical manifestations and suggests considering germline karyotype and chromosomal microarray for ATRT patients with dysmorphic features, developmental delay, or disproportionate growth. Additionally, the article reports the first case of multiple meningiomas occurring in a long-term survivor of ATRT with germline ring chromosome 22, which predisposes to both SMARCB1 and NF2 deficient tumors. The authors emphasize the need for clinical monitoring in patients with germline ring chromosome 22 and suggest considering germline chromosomal microarray for all ATRT patients with loss of chromosome 22 observed in the tumor. [Extracted from the article]