Outcomes for children with recurrent/refractory atypical teratoid
rhabdoid tumor: A single institution study with molecular correlation
Abstract
Background: Survival data for recurrent or treatment refractory
pediatric atypical teratoid rhabdoid tumor (AT/RT), and its association
to molecular groups is extremely limited. Methods:
Single-institution retrospective study of sixty-four children
<21 years old with AT/RT that was recurrent or refractory to
frontline therapies (PD) treated at St. Jude Children’s Research
Hospital from January 2000 to December 2020. Demographic,
clinicopathologic, treatment, molecular grouping (SHH, TYR and MYC) and
germline SMARCB1/SMARCA4 mutational data were collected.
Progression-free survival (PFS2: time from initial PD to subsequent
first progression) and overall survival (OSpostPD: time from PD to
death/last follow up) were estimated by Kaplan–Meier analysis.
Results: Median age at and time from initial diagnosis to PD
were 2.1 years (range: 0.5-17.9 years) and 5.4 months (range: 0.5-125.6
months), respectively. Only 5/64 children (7.8%) are alive at median
follow-up of 10.9 (range: 4.2-18.1) years from PD. The 2/5-year PFS2 and
OSpostPD were 3.1% (±1.8%)/1.6% (±1.1%) and 20.3% (±4.8%)/7.3%
(±3.5%), respectively. Children with TYR group (n=10) had a better
OSpostPD compared to those with MYC (n=11) (2-year survival estimates:
60.0% ±14.3% vs. 18.2% ±9.5%; p=0.019), or those with SHH (n=21;
4.8% ±3.3%; p=0.014). In univariate analyses, OSpostPD was better with
older age at diagnosis (p=0.037), female gender (p=0.008), and
metastatic site of PD compared to local or combined sites of PD
(p<0.001). Conclusions: Children with
recurrent/refractory AT/RT have dismal outcomes. Older age at diagnosis,
female gender, TYR group, and metastatic site of PD were associated with
relatively longer survival in our study.