Outcomes for children with recurrent/refractory atypical teratoid rhabdoid tumor: A single-institution study with molecular correlation

Pediatr Blood Cancer. 2024 Oct;71(10):e31208. doi: 10.1002/pbc.31208. Epub 2024 Jul 21.

Abstract

Background: Survival data for recurrent pediatric atypical teratoid rhabdoid tumor (ATRT) and its association to molecular groups are extremely limited.

Methods: Single-institution retrospective study of 64 children less than 21 years old with recurrent or treatment-refractory (progressive disease [PD]) ATRT treated at St. Jude Hospital from January 2000 to December 2020. Demographic, clinicopathologic, treatment, molecular grouping (SHH, TYR, and MYC) and germline data were collected. Progression-free survival (PFS2: time from 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 five of 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 = .019), or those with SHH (n = 21; 4.8% ± 3.3%; p = .014). In univariate analyses, OSpostPD was better with older age at diagnosis (p = .037), female gender (p = .008), and metastatic site of PD compared to local or combined sites of PD (p < .001). Two-year OSpostPD for patients receiving any salvage therapy (n = 39) post PD was 33.3% ± 7.3%.

Conclusions: Children with recurrent/refractory ATRT 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.

Keywords: ATRT germline variants; ATRT molecular groups; ATRT survival; recurrent ATRT.

MeSH terms

  • Adolescent
  • Biomarkers, Tumor / genetics
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neoplasm Recurrence, Local* / mortality
  • Neoplasm Recurrence, Local* / pathology
  • Prognosis
  • Retrospective Studies
  • Rhabdoid Tumor* / mortality
  • Rhabdoid Tumor* / pathology
  • Rhabdoid Tumor* / therapy
  • Survival Rate
  • Teratoma* / mortality
  • Teratoma* / pathology
  • Teratoma* / therapy

Substances

  • Biomarkers, Tumor

Supplementary concepts

  • Typical Teratoid Rhabdoid Tumor