Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene

• Published in: Journal of pathology and translational medicine Vol. 55; no. 2; pp. 145 - 153
• Main Authors: Han, Eunkyung, Kim, Jiyoon, Jung, Min Jung, Chin, Susie, Lee, Sang Wook, Moon, Ahrim
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Society of Pathologists, Korean Society for Cytopathology 01.03.2021; The Korean Society of Pathologists and the Korean Society for Cytopathology; Korean Society of Pathologists & the Korean Society for Cytopathology; 대한병리학회
• Subjects: Adrenal glands; adult; Antigens; Case Study; Chromosomes; Cytokeratin; Ewings sarcoma; Genes; Hemorrhage; ini-1; kidney; Kidney cancer; Lymphatic system; Medical imaging; Metastasis; Morphology; Mutation; rhabdoid tumor; smarcb1; 병리학; United States > US; Rhabdoid tumor; INI-1; Adult; SMARCB1; Kidney
• ISSN: 2383-7837; 2383-7845
• DOI: 10.4132/jptm.2021.01.26

A 57-year-old man with left flank pain was referred to our institute. Computed tomography scans revealed two enhancing masses in the left kidney. The clinical diagnosis was renal cell carcinoma (RCC). He underwent a radical nephrectomy with an adrenalectomy. Two well-circumscribed solid masses in the hilum and the lower pole (4.5 × 3.5 cm and 7.0 × 4.1 cm) were present. Poorly cohesive uniform round to polygonal epithelioid cells making solid sheets accounted for most of the tumor area. The initial diagnosis was RCC, undifferentiated with rhabdoid features. As the tumor showed loss of INI1 expression and a mutation in the SMARCB1 gene on chromosome 22, the revised diagnosis was a malignant rhabdoid tumor (MRT) of the kidney. To date, only a few cases of renal MRT in adults have been reported. To the best of our knowledge, this is the first report of MRT in the native kidney of an adult demonstrating a SMARCB1 gene mutation, a hallmark of MRT.