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Malignant Rhabdoid Tumor and Related Pediatric Tumors: Multimodality Imaging Review with Pathologic Correlation.

Maria Clara Lorca¹, Jessie Huang¹, Kristian Schafernak¹

¹From the Department of Imaging Sciences (M.C.L., S.E., A.C.) and Department of Pathology and Laboratory Medicine (P.J.K.), University of Rochester Medical Center, 601 Elmwood Ave, Box 648, Rochester, NY 14642; University of Rochester School of Medicine and Dentistry, Rochester, NY (J.H.); Departments of Pathology (K.S.) and Radiology (D.B.), Phoenix Children's Hospital, Phoenix, Ariz; Department of Radiology, Seattle Children's Hospital, Seattle, Wash (A.L.S.); and Department of Radiology, Mayo Clinic, Rochester, Minn (N.C.H.).

Radiographics : a Review Publication of the Radiological Society of North America, Inc

|August 1, 2024

Summary

Malignant rhabdoid tumors (MRTs) are rare pediatric cancers linked to SMARCB1/SMARCA4 gene mutations. Imaging plays a crucial role in diagnosing MRTs, staging, and monitoring treatment response.

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Area of Science:

Oncology
Genetics
Radiology

Background:

Malignant rhabdoid tumors (MRTs) are aggressive pediatric neoplasms with diverse presentations.
While often affecting the central nervous system, MRTs can arise in kidneys and soft tissues, impacting nomenclature.
Genetic underpinnings involve SMARCB1 and SMARCA4 mutations, with related neoplasms driven by SMARC alterations.

Purpose of the Study:

To review the clinical and imaging characteristics of MRTs.
To discuss the genetic basis and molecular heterogeneity of rhabdoid tumors.
To highlight the role of imaging in diagnosis, staging, and follow-up of MRTs and related conditions.

Main Methods:

Review of imaging modalities including US, CT, MRI, and PET/CT or PET/MRI.
Discussion of genetic testing and counseling for rhabdoid tumor predisposition syndromes (RTPSs).
Analysis of site-specific imaging features and molecular underpinnings.

Main Results:

MRTs exhibit distinct imaging characteristics based on anatomical site.
SMARCB1/SMARCA4 mutations are central to the pathogenesis of MRTs and RTPSs.
Imaging facilitates diagnosis, staging, and therapeutic decision-making for MRTs.

Conclusions:

Accurate diagnosis and management of MRTs rely on integrated clinical, imaging, and genetic approaches.
Genetic testing is essential for identifying RTPSs, guiding surveillance, and genetic counseling.
Understanding the molecular basis and imaging findings is crucial for improving outcomes in pediatric rhabdoid tumors.