Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene
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 th...
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| Format: | Article |
| Language: | English |
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Korean Society of Pathologists & the Korean Society for Cytopathology
2021-03-01
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| Series: | Journal of Pathology and Translational Medicine |
| Subjects: | |
| Online Access: | http://www.jpatholtm.org/upload/pdf/jptm-2021-01-26.pdf |
| _version_ | 1819163501712637952 |
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| author | Eunkyung Han Jiyoon Kim Min Jung Jung Susie Chin Sang Wook Lee Ahrim Moon |
| author_facet | Eunkyung Han Jiyoon Kim Min Jung Jung Susie Chin Sang Wook Lee Ahrim Moon |
| author_sort | Eunkyung Han |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T17:45:08Z |
| format | Article |
| id | doaj.art-aaf46d23842d48bfbfb689fddd01761f |
| institution | Directory Open Access Journal |
| issn | 2383-7837 2383-7845 |
| language | English |
| last_indexed | 2024-12-22T17:45:08Z |
| publishDate | 2021-03-01 |
| publisher | Korean Society of Pathologists & the Korean Society for Cytopathology |
| record_format | Article |
| series | Journal of Pathology and Translational Medicine |
| spelling | doaj.art-aaf46d23842d48bfbfb689fddd01761f2022-12-21T18:18:19ZengKorean Society of Pathologists & the Korean Society for CytopathologyJournal of Pathology and Translational Medicine2383-78372383-78452021-03-0155214515310.4132/jptm.2021.01.2616958Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 geneEunkyung Han0Jiyoon Kim1Min Jung Jung2Susie Chin3Sang Wook Lee4Ahrim Moon5 Department of Pathology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea Department of Pathology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea Department of Pathology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea Department of Pathology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea Department of Urology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea Department of Pathology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, KoreaA 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.http://www.jpatholtm.org/upload/pdf/jptm-2021-01-26.pdfrhabdoid tumorkidneyadultini-1smarcb1 |
| spellingShingle | Eunkyung Han Jiyoon Kim Min Jung Jung Susie Chin Sang Wook Lee Ahrim Moon Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene Journal of Pathology and Translational Medicine rhabdoid tumor kidney adult ini-1 smarcb1 |
| title | Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene |
| title_full | Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene |
| title_fullStr | Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene |
| title_full_unstemmed | Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene |
| title_short | Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene |
| title_sort | malignant rhabdoid tumor of the kidney in an adult with loss of ini1 expression and mutation in the smarcb1 gene |
| topic | rhabdoid tumor kidney adult ini-1 smarcb1 |
| url | http://www.jpatholtm.org/upload/pdf/jptm-2021-01-26.pdf |
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