Case report reveals complete resection and SMARCB1 deletion in an infant with renal malignant rhabdoid tumor, highlighting the essential role of molecular confirmation.
Key Points
To report the clinical presentation, surgical intervention, and molecular diagnostic findings in an infant with a rare malignant rhabdoid tumor of the kidney.
Diagnostic evaluation, abdominal imaging, and radical left nephrectomy with regional lymphadenectomy in a 7-month-old female with painless gross hematuria.
Histopathologic staging following Children's Oncology Group (COG) criteria, along with immunohistochemical assessment of INI1 expression.
Targeted next-generation sequencing to identify underlying genetic alterations.
Surgical pathology achieved complete resection of the renal mass with negative lymph nodes, establishing COG Local Stage II disease.
Immunohistochemistry revealed a complete loss of nuclear INI1 expression in tumor cells.
Next-generation sequencing identified a pathogenic SMARCB1 deletion, confirming the diagnosis.