Table 1

Clinical findings in 29 AT/RTs

Patient no.AgeSexLocationDiagnosisKaryotypeFISHLOH
86-186 monthsMBrain, kidneyRhabdoid45,XY,−22NAa2 (D22S257)
88-12811 monthsMCerebellumAT/RT45,XY,−22NALOH (D22S303, TOP1P2)
91-233 yrMRight frontal lobeAT/RT46,XYHD (MIF)LOH (D22S303, TOP1P2)
93-5810 monthsFCerebellopontine angleAT/RTNAHD (INI1)LOH (D22S303)
93-682 yrMRight temporal parietalAT/RTNANA1 (D22S303, TOP1P2)
93-941 yrFCerebellumPNET45,XX,−22D (BCR)LOH (D22S303)
93-13318 monthsMCerebellar vermisAT/RTNAD (INI1)LOH (D22S257)
94-9017 monthsMCerebellopontine angleAT/RTNAD (BCR)LOH (D22S257, D22S310)
94-1215 monthsMCerebellumAT/RTNAD (BCR)H (D22S310)
95-4613 monthsMThalamusAT/RT46,XYD (MIF)LOH (D22S257, D22S310)
95-1486 yrFLeft frontal lobeAT/RT61,XX,+1,+1,+7,+7,+11,+11,+14,+14,add(16q?),+19,+add(19)(q13),+20,+20,+21,+mar,+marHD (5′INI1)LOH (TOP1P2)
96-7920 monthsMPinealAT/RTNANAH (TOP1P2)
97-4122 monthsMBrainAT/RT46,XY,r (22)HD (INI1)1 (D22S303, D22S257)
97-545 yrMLeft frontal lobeAT/RT45,XY,−22D(BCR, INI1)LOH (D22S257, TOP1P2)
97-55BirthMLiver, lymph nodes, legRhabdoidNAHD (BCR, INI1)1 (D22S257)
97-641 weekMSubmandibular, thyroid glandsRhabdoidNAD (BCR)1 (D22S303, D22S257)
97-783 yrFLiverRhabdoidNAD (BCR, EWS)LOH (D22S303, D22S257)
97-1014 yrFThird ventricleAT/RT46,XX,r (22) (blood)D (BCR, EWS)NA
97-1027 yrMRight parietal, parasagittalAT/RT45,XY,−22,der(22)t(22;22)HD (MIF)1 (D22S303, D22S257)
D (EWS)
97-1046 yrFLeft temporal lobeAT/RTNANAH (D22S257)
98-698 monthsFKidney, brainRhabdoidNAND (MIF)NA
98-746 monthsFRight intraventricularAT/RT45,XX,−22NANA
98-12617 monthsFKidneyRhabdoidNAD (MIF)NA
96-10-P3083 weeksMSkin, bone, soft tissueRhabdoid46,XY,t(10;16)(q23.2;q12), add(22)HD (INI1)1 (D22S303)
50340-1Bilateral, kidneyRhabdoidNANANA
50340-2Bilateral, kidneyRhabdoidNAND (BCR)LOH (D22S257)
50495KidneyRhabdoidNAND (BCR)LOH (D22S257)
50462-1KidneyRhabdoidNANANA
E411KidneyRhabdoidNAND (BCR)1 (TOP1P2)
  • a NA, not available or not adequate; D, deletion; ND, no deletion; H, heterozygous; 1, one allele present; 2, two alleles present; HD, homozygous deletion.