Table 1.

Summary of genetic and clinical characteristics of patients with germline mutations

PatientGermlineConsequenceTumorLocationAgeaOutcome
1c.93G > CAffect the splice siteDel Ex1–9ATRT28DOD
2c.105C > GpTyr35XDel Ex1–9ATRT29NED
3c.118C > Tp.Arg40Xc.118C > TOrbita0DOD
4c.122dupp.Ser42PhefsX29Del Ex1–9Thorax2NA
5c.157C > Tp.Arg53XDel Ex1–9ATRT1DOD
6c.442_449delp.Ser148HisfsX19Del Ex1–9ATRT14DOD
7c.472C > Tp.Arg158Xc.472C > TMultifocal MRT0DOD
8c.564delp.Ile189SerfsX20c.564delbRTK3DOD
9c.601C > Tp.Arg201Xc.601C > TATRT0DOD
10c.747dupp.Thr250HisfsX3Del Ex1–9Pelvis7DOD
11c.760dupp.Leu254ProfsX27Del Ex1–9RTK6NA
12c.757_796–659delp.Ile253_Lys265delNDATRT5NA
13c.778delp.Gln260SerfsX7Del Ex1–9ATRT6DOD
14c.902delp.Leu301ArgfsX19c.902delATRT7NED
15Dup Ex6–7FrameshiftDel Ex1–9ATRT + RTK7DOD
16Del Ex2FrameshiftDel Ex2Leg0DOD
17Del Ex4–5FrameshiftNDATRT24DOD
18Del Ex6FrameshiftDel Ex6ATRT2DOD
19Del Ex7–9No transcriptDel Ex7–9ATRT + RTK5DOD
20Del Ex1–9No transcriptDel Ex1–9Buttock + ATRT3DOD
21Del Ex1–9No transcriptNDATRT + RTK3DOD
22Del Ex1–9No transcriptDel Ex1–9ATRT8DOD
23Del Ex1–9No transcriptc.1148delATRT25DOD
24Del Ex1–9No transcriptDel Ex1–3Thorax101CR
25Del Ex1–9No transcriptc.927delRetroperitoneum297DOD
F1.1cc.978C > Ap.Tyr326Xc.978C > AParaspinal4DOD
F1.2cc.978C > Ap.Tyr326XDel Ex7ATRT0DOD
F2.1dc.472C > Tp.Arg158XDel Ex1–9Multifocal MRT<24NA
F2.2dc.472C > Tp.Arg158XDel Ex1–9RTK7NA
F3.1c.952dupp.Gly318ProfsX43c.952dupATRT4DOD
F3.2c.952dupp.Gly318ProfsX43c.952dupThorax73CR
F5.1c.472C > Tp.Arg158XNDATRT4DOD
F5.2c.472C > Tp.Arg158XNDATRT8DOD

Abbreviations: Del, deletion; DOD, dead of disease; NED, no evidence of disease; dup, duplication; NA, not available; ND, not done; CR, complete remission.

  • aAge in months.

  • bLoss of heterozygosity with no copy number variation assessed by MLPA, suggesting a duplication of the mutated allele in the tumor.

  • cPatients in reference 8.

  • dPatients in reference 10.