Malignant Rhabdoid Tumor Clinical Presentation

  • Author: James I Geller, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Mar 9, 2012
 

History

Children with rhabdoid tumor of the kidney (RTK) present with signs and symptoms related to an intrarenal mass.

  • Pain is difficult to assess because the median age at presentation is about 11 months. However, fussiness is reported in most patients.
  • Gross hematuria is a presenting feature in approximately 60% of patients. By contrast, only 20% of patients with Wilms tumor have gross hematuria.
  • Fever is a presenting symptom in 50% of patients with a rhabdoid tumor of the kidney, compared with 25% of patients with a Wilms tumor.
  • As many as 20% of patients with a rhabdoid tumor of the kidney have synchronous or metachronous CNS lesions, including both metastases and second primary cancers.

A detailed family cancer history should be obtained.

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Physical

The physical findings of patients with malignant rhabdoid tumor (MRT) depend on the site of origin of the tumor.[10, 11]

  • For rhabdoid tumor of the kidney, the physical examination is most remarkable for a large intra-abdominal mass.
  • Hypertension, defined as blood pressure greater than the 95th percentile, is observed in up to 70% of patients.
  • In contrast to a Wilms tumor, an malignant rhabdoid tumor is not associated with the WAGR syndrome, which consists of a Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, or with Beckwith-Wiedemann syndrome, which is organomegaly, large birth weight, macroglossia, and hemihypertrophy.
  • Evidence of focal neurologic signs or increased intracranial pressure should be evaluated in light of the prevalence of synchronous CNS tumors.
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Causes

  • Although mutations or deletions of the SMARCB1/INI1 gene play a role in the development of malignant rhabdoid tumor, the events that incite these genetic alterations are unknown.
  • Several cases of familial malignant rhabdoid tumor are reported.
  • No environmental or infectious associations with malignant rhabdoid tumor have been established.
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Contributor Information and Disclosures
Author

James I Geller, MD  Associate Professor of Clinical Pediatrics, Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center

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

Disclosure: Nothing to disclose.

Coauthor(s)

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

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

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, Children's Oncology Group, College of American Pathologists, Society for Pediatric Pathology, and United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology

Disclosure: Nothing to disclose.

Helen SI Chan, MBBS, FRCP(C), FAAP  Associate Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto Faculty of Medicine, Canada

Helen SI Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

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

Disclosure: Nothing to disclose.

Additional Contributors

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.

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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).
Table 1. One Ifosfamide-Carboplatin-Etoposide regimen for Malignant Rhabdoid Tumor
DrugDosageRouteSchedule
CarboplatinTarget dose to the AUC of 6 mg/mL/min by using the Calvert equationIVDay 1
Etoposide3.3 mg/kg/dose or 100 mg/m2/doseIVDays 1, 2, and 3
Ifosfamide65 mg/kg/dose or 2 g/m2/doseIVDays 1, 2, and 3
Mesna16 mg/kg/dose or 500 mg/m2/doseIVStart immediately after and at 3 h, 6 h, and 9 h after ifosfamide
Filgrastim G-CSF5 mcg/kg/doseSCStart 24 h after chemotherapy and continue until ANC recovers
Table 2. One Vincristine-Doxorubicin-Cyclophosphamide Regimen for Malignant Rhabdoid Tumor
DrugDosageRouteSchedule
Vincristine0.05 mg/kg/dose or 1.5 mg/m2/dose; not to exceed 2 mg/doseIVDays 1, 8, and 15
Doxorubicin1.2 mg/kg/dose or 37.5 mg/m2/doseIVDays 1 and 2
Cyclophosphamide60 mg/kg/dose or 1.8 g/m2/doseIVDay 1
Mesna15 mg/kg/dose or 450 mg/m2/doseIVStart immediately after and at 3, 6, and 9 h after cyclophosphamide
Filgrastim G-CSF5 mcg/kg/doseSCStart 24 h after chemotherapy and continue until ANC recovers
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