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Malignant rhabdoid tumor of the brain and kidney in a child: clinical and pathologic features
R D Cohn1, Y Frank, A E Stanek
1Department of Neurology, North Shore University Hospital, Cornell University Medical College, Manhasset, New York 11030, USA.
Abstract:
Malignant rhabdoid tumor (MRT) is most frequently found in the kidney, but can occur in other tissues including the brain. The simultaneous appearance of MRT in the brain and kidney has rarely been described. We report the first fully described case of simultaneous appearance of MRT in the kidney and cerebellum of an 8-month-old boy. Cytoplasmic inclusion-like masses, representing aggregates of intermediate filaments, positively stained by Vimentin and by epithelial membrane antigen, were abundant in the kidney tumor but rare in the cerebellar tumor, suggesting that this often-described characteristic of kidney MRT can be an infrequently observed feature of brain MRT, which consequently may be thought to represent another type of tumor.
Insights
Malignant rhabdoid tumor (MRT) rarely appears simultaneously in the brain and kidney. This case highlights that key diagnostic features of kidney MRT may be infrequent in brain MRT, potentially leading to misdiagnosis.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Pathology
Background:
- Malignant rhabdoid tumor (MRT) is a rare and aggressive cancer predominantly affecting the kidney but also occurring in the brain.
- Simultaneous occurrence of MRT in both the kidney and brain is exceptionally uncommon.
Observation:
- This report details the first comprehensive description of a simultaneous malignant rhabdoid tumor in the kidney and cerebellum of an infant.
- The cerebellar tumor exhibited fewer characteristic cytoplasmic inclusions compared to the kidney tumor.
Findings:
- Cytoplasmic inclusion-like masses, positive for Vimentin and epithelial membrane antigen, were abundant in the kidney MRT but rare in the cerebellar MRT.
- This difference in histological features suggests that brain MRT may present atypically, differing from its kidney counterpart.
Implications:
- The histological variability between kidney and brain MRTs can pose diagnostic challenges.
- Recognizing these potential differences is crucial for accurate diagnosis and appropriate treatment of malignant rhabdoid tumors in children.