"The vast majority (~95%) of AT/RTs have inactivation of both copies of SMARCB1 (also known as INI1, BAF47 or hSNF5). In a small minority of cases (< 5%) it is SMARCA4 (also known as BRG1) that is inactivated 13."
"T1: iso- to slightly hyperintense to grey matter (haemorrhagic areas can be more hyperintense)"
"T2: generally hyperintense (haemorrhagic areas can be hypointense)"
"T1 C+ (Gd): heterogeneous enhancement"
"lower ADC14"
"indistinctive tumour margin14"
"absence of "tumour central vein" sign14"
"Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon WHO grade 4 tumours, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. AT/RT often resembles medulloblastoma by imaging and even H&E microscopy, and the diagnosis requires cytogenetic analysis of the tissue."
"Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon WHO grade 4 tumours, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. AT/RT often resembles medulloblastoma by imaging and even H&E microscopy, and the diagnosis requires cytogenetic analysis of the tissue."
"Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon WHO grade 4 tumours, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. AT/RT often resembles medulloblastoma by imaging and even H&E microscopy, and the diagnosis requires cytogenetic analysis of the tissue."
"Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon WHO grade 4 tumours, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. AT/RT often resembles medulloblastoma by imaging and even H&E microscopy, and the diagnosis requires cytogenetic analysis of the tissue."
"AT/RTs typically present in very young children (median age is less than 2-3 years 2,13)."
"Rhabdoid cells are the hallmark of AT/RT, but only comprise a fraction of the tumour and are not required for the diagnosis provided genetic of DNA-methylation changes are compatible (see below) 13."
"Rhabdoid cells are the hallmark of AT/RT, but only comprise a fraction of the tumour and are not required for the diagnosis provided genetic of DNA-methylation changes are compatible (see below) 13."
"The vast majority (~95%) of AT/RTs have inactivation of both copies of SMARCB1 (also known as INI1, BAF47 or hSNF5). In a small minority of cases (< 5%) it is SMARCA4 (also known as BRG1) that is inactivated 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"Additionally, AT/RTs can be divided into three subgroups according to DNA-methylation profiling: AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC 13."
"EMA: positive"
"NAA: decreased"
"Leptomeningeal seeding has been described in up to 15-30% of cases and so post-contrast imaging of the entire neuroaxis should be considered in suspected AT/RTs."
"Surgery with debulking can be offered in some cases. Tumours can demonstrate leptomeningeal dissemination. Clinically AT/RTs have a much poorer prognosis than medulloblastomas, with little if any response to chemotherapy and death usually occurring within a year of diagnosis."
"embryonal tumour with multilayered rosettes particularly for supratentorial AT/RTs"
"haemorrhage is much less frequently seen than in AT/RTs 6"
"CNS tumour with BCOR internal tandem duplication"
"Cho: elevated"
Expected headings
"Microscopic features"
"Location"
"The vast majority (~95%) of AT/RTs have inactivation of both copies of SMARCB1 (also known as INI1, BAF47 or hSNF5). In a small minority of cases (< 5%) it is SMARCA4 (also known as BRG1) that is inactivated 13."