Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 geneopen access
- Authors
- Han, Eunkyung; Kim, Jiyoon; Jung, Min Jung; Chin, Susie; Lee, Sang Wook; Moon, Ahrim
- Issue Date
- Mar-2021
- Publisher
- 대한병리학회
- Keywords
- Rhabdoid tumor; Kidney; Adult; INI-1; SMARCB1
- Citation
- Journal of Pathology and Translational Medicine, v.55, no.2, pp 145 - 153
- Pages
- 9
- Journal Title
- Journal of Pathology and Translational Medicine
- Volume
- 55
- Number
- 2
- Start Page
- 145
- End Page
- 153
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2011
- DOI
- 10.4132/jptm.2021.01.26
- ISSN
- 2383-7837
2383-7845
- Abstract
- 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 x 3.5 cm and 7.0 x 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.
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Collections - College of Medicine > Department of Urology > 1. Journal Articles
- College of Medicine > Department of Pathology > 1. Journal Articles
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