Diagnostic Considerations

For malignant rhabdoid tumor (MRT) of the kidney, the following should be considered in the differential diagnosis:

Wilms tumor
Congenital mesoblastic nephroma
Renal cell carcinoma
Clear cell sarcoma of the kidney
Primitive neuroectodermal tumor of the kidney
Renal medullary carcinoma

For extrarenal MRT, the following should be considered in the differential diagnosis:

Rhabdomyosarcoma
Nonrhabdomyosarcoma soft tissue sarcomas
Hepatoblastoma/small cell undifferentiated tumor

Differential Diagnoses

Workup

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Media Gallery

Nonenhanced CT scan demonstrates linear and curvilinear calcifications outlining tumor lobules in a malignant rhabdoid tumor (MRT) (arrows). A hypoattenuating fluid collection surrounds and separates the lobules. These imaging features are seen with MRT more often than with other childhood renal neoplasms.
Contrast-enhanced CT scan demonstrates a subcapsular fluid collection (arrow) and the lobulated nature of a malignant rhabdoid tumor (MRT). Subcapsular fluid collections are more common with MRTs than with the other renal neoplasms that occur in children.
Histology of malignant rhabdoid tumors (MRTs). This photomicrograph shows the typical large malignant cells with large, vesicular nuclei, prominent red nucleoli, and abundant eosinophilic cytoplasm. Many tumor cells have a distinct, pale, rhabdoid inclusion in the cytoplasm. (Hematoxylin and eosin stain, original magnification x400).
INI1 immunohistochemistry stain shows diffuse loss of INI1 expression in tumor nuclei, with appropriate staining of intratumoral endothelial cells serving as the internal control (original magnification x400).

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Table 1. Acquired SMARCB1 Alterations in 200 Sporadic Rhabdoid Tumors (Adapted from Geller JI, Roth JJ, Biegel JA. Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog. 2015. 20 [3-4]:199-216)

Allele 1 Alteration	Allele 2 Alteration				Total
Allele 1 Alteration	Mutation	Partial Gene Deletion/Duplication	Whole Gene Deletion	CN-LOH	Total
Mutation	8 (4%)	1 (0.50%)	58 (29%)	27 (13.5%)	94 (47%)
Partial Gene Deletion/Duplication	-	5 (2.5%)	14 (7%)	11 (5.3%)	30 (15%)
Whole Gene Deletion	-		76 (38%)	-	76 (38%)
Total	8 (4%)	6 (3%)	148 (74%)	38 (19%)	200 (100%)

Table 1. One Ifosfamide-Carboplatin-Etoposide regimen for MRT

Drug	Dosage	Route	Schedule
Carboplatin	Target dose to the AUC of 6 mg/mL/min by using the Calvert equation	IV	Day 1
Etoposide	3.3 mg/kg/dose or 100 mg/m²/dose	IV	Days 1, 2, and 3
Ifosfamide	65 mg/kg/dose or 2 g/m²/dose	IV	Days 1, 2, and 3
Mesna	16 mg/kg/dose or 500 mg/m²/dose	IV	Start immediately after and at 3 h, 6 h, and 9 h after ifosfamide
Filgrastim G-CSF	5 mcg/kg/dose	SC	Start 24 h after chemotherapy and continue until ANC recovers

Table 2. One Vincristine-Doxorubicin-Cyclophosphamide Regimen for MRT

Drug	Dosage	Route	Schedule
Vincristine	0.05 mg/kg/dose or 1.5 mg/m²/dose; not to exceed 2 mg/dose	IV	Days 1, 8, and 15
Doxorubicin	1.2 mg/kg/dose or 37.5 mg/m²/dose	IV	Days 1 and 2
Cyclophosphamide	60 mg/kg/dose or 1.8 g/m²/dose	IV	Day 1
Mesna	15 mg/kg/dose or 450 mg/m²/dose	IV	Start immediately after and at 3, 6, and 9 h after cyclophosphamide
Filgrastim G-CSF	5 mcg/kg/dose	SC	Start 24 h after chemotherapy and continue until ANC recovers

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Author

James I Geller, MD, FAAP Professor of Pediatrics, Medical Director, Kidney and Liver Tumors Programs, Director, Pilot Translational and Clinical Studies Program (CCTST), Division of Oncology, Cincinnati Children's Hospital Medical Center

James I Geller, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Clinical Oncology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group

Disclosure: Nothing to disclose.

Coauthor(s)

Amy L Walz, MD Assistant Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Assistant Professor of Pediatrics, Division of Hematology, Oncology, Neuro-Oncology, and Stem Cell Transplantation, Clinical Practice Director, Center for Cancer and Blood Disorders, Ann and Robert H Lurie Children’s Hospital of Chicago

Amy L Walz, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Stephan A Grupp, MD, PhD Director, Stem Cell Biology Program, Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Stephan A Grupp, MD, PhD is a member of the following medical societies: American Association for Cancer Research, Society for Pediatric Research, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Nancy D Leslie, MD Professor of Clinical Pediatrics, Cincinnati Children's Hospital

Nancy D Leslie, MD is a member of the following medical societies: American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Pediatric Research, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Hong Yin, MD Assistant Professor, Department of Pathology and Laboratory Medicine, University of Cincinnati School of Medicine; Staff Pathologist, Department of Pathology, Cincinnati Children's Hospital

Hong Yin, MD is a member of the following medical societies: American Medical Association, College of American Pathologists, United States and Canadian Academy of Pathology, Children's Oncology Group, Society for Pediatric Pathology

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Jeffrey Dome, MD, to the original writing and development of this article.

Malignant Rhabdoid Tumor Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

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