Long-Term Remission of a Spinal Atypical Teratoid Rhabdoid Tumor in Response to Intensive Multimodal Therapy

Fahd Refai,Haneen Al-Maghrabi,Jaudah Al-Maghrabi,Hassan Al Trabolsi

doi:10.1155/2019/3842835

Abstract

Atypical teratoid rhabdoid tumors (ATRTs) are rare and aggressive central nervous system tumors that infrequently arise in spinal locations in young children. Provided clinical and diagnostic suspicion is high, the histopathological diagnosis is relatively straightforward to secure by testing for the characteristic loss of the tumor suppressor protein SMARCB1/INI1. Here, we describe a case of thoracic spinal ATRT in a three-year-old boy that showed characteristic aggressive progression until managed with intensive multimodal therapy to achieve durable long-term remission. In doing so, we review the histopathological features, management, and current advances in molecular biology that hold promise for personalized ATRT therapy.

Highlights

Atypical teratoid rhabdoid tumors (ATRTs) are rare, aggressive, central nervous system (CNS) tumors that usually arise in the brain in young children but can arise at other sites including the spinal cord [1]
A diagnosis of a malignant poorly differentiated round cell neoplasm was made, and the specific differential diagnosis including atypical teratoid rhabdoid tumor (ATRT) and myoepithelial carcinoma was made. e case was referred for an external specialist opinion at Boston Children’s Hospital, who agreed with the histopathological assessment that both the morphology and the immunophenotype were consistent with ATRT, the polyphenotypic appearance of the tumor, and the definite loss of SMARCB1/INI1 expression supporting the diagnosis
ATRTs were commonly misdiagnosed as medulloblastomas or primitive neuroectodermal tumors (PNETs), because of the similar histopathological appearances and the similar imaging and gross pathological features [5]. e histological features are often mixed

Summary

Introduction

Atypical teratoid rhabdoid tumors (ATRTs) are rare, aggressive, central nervous system (CNS) tumors that usually arise in the brain in young children but can arise at other sites including the spinal cord [1]. ATRTs need to be considered in the differential diagnosis of small round blue cells and poorly differentiated tumors occurring at peripheral sites, especially when biopsy material is limited, since the tumors are frequently heterogeneous and characteristic rhabdoid cells may be sparsely distributed. Provided that diagnostic suspicion is high, the diagnosis of ATRT is aided by characteristic and almost pathognomonic molecular features. We describe the rare case of a spinal ATRT occurring in a young boy to illustrate the histopathological and molecular features and the aggressive but rescuable clinical course of ATRT with intensive multimodal management

Case Presentation

Discussion

Findings

Ethical Approval