Autologous stem cell transplantation in adults with atypical teratoid rhabdoid tumor: a case report and review

Abstract

Aim: Atypical teratoid rhabdoid tumor (ATRT) is a rare and highly aggressive primary CNS neoplasm, predominantly observed in children. The use of autologous stem cell transplantation (ASCT) in pediatric ATRT has shown promise; however, its utility in adult ATRT remains unclear. Patients & methods: This study presents the case of an adult patient with ATRT who is in remission after ASCT and reviews the literature on ASCT in adults with ATRT. Four cases of ATRT in adults who underwent ASCT were identified, with pertinent data summarized. Results: All five patients survived longer than the historical average survival rate, four of whom had no clinical or radiographic evidence of disease at the final follow-up. Conclusion: Based on limited data, there may be a role for ASCT in the treatment of adults with ATRT.

Keywords: ASCT; ATRT; adult; atypical teratoid rhabdoid tumor; autologous stem cell transplantation; treatment.

Figure 1.

MRI brain T1 post-contrast axial images of the patient demonstrating a heterogeneously enhancing right anterior pituitary mass with mild to moderate suprasellar extension and involvement of the right cavernous sinus (yellow arrows). Images at presentation (A), at readmission four days later (B), and nine days after initial presentation pre-operatively (C).

Figure 2.

Histologic examination showing an undifferentiated malignant embryonal neoplasm comprised of large pale epithelioid cells with prominent nucleoli (A, H&E 600×). Neoplastic cells showing polyimmunophenotypic protein expression with focal GFAP staining (B, 400×) and focal EMA staining (C, 400×). Malignant cells have occasional characteristic rhabdoid cytologic features with eccentric nuclei and dense eosinophilic fibrillary inclusions (D, arrowheads, 600×). The ki67 proliferative index was ∼70% (E, 200×). Staining for INI-1 protein showing loss of nuclear immunoreactivity in malignant cells indicating inactivation of SMARCB1 (F, 400×).