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Case Study
Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene
Eunkyung Han, Jiyoon Kim, Min Jung Jung, Susie Chin, Sang Wook Lee, Ahrim Moon
J Pathol Transl Med. 2021;55(2):145-153.   Published online March 9, 2021
DOI: https://doi.org/10.4132/jptm.2021.01.26
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  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDF
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.

Citations

Citations to this article as recorded by  
  • Supratentorial ATRT in a young Infant: Expanding the diagnostic spectrum beyond medulloblastoma
    Ali Msheik, Mohamad Aoun, Youssef Fares
    Interdisciplinary Neurosurgery.2024; 35: 101857.     CrossRef
  • Malignant rhabdoid tumor of kidney in an adult patient with positive family history of rhabdoid tumor: A case report and review of literature
    Farhood Khaleghi mehr, Nasrollah Abian, Mandana Rahimi, Yasaman Moradi
    International Journal of Surgery Case Reports.2023; 113: 109053.     CrossRef
Case Report
Minimal Deviation Endometrioid Adenocarcinoma of the Uterine Cervix: A Case Report.
Kye Won Kwon, Susie Chin, Hee Kyung Kim, Eun Seok Koh, Kyu Rae Kim, Kye Hyun Nam
Korean J Pathol. 2008;42(4):240-243.
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  • 19 Download
AbstractAbstract PDF
We describe here a case of minimal deviation endometrioid adenocarcinoma (MDEA) of the uterine cervix that was initially suspected according to the abnormal cytologic findings in a 39-year-old woman. The Papanicolaou (pap) smear showed many neoplastic glandular cells in monolayered sheets, rosettes, and clusters with palisading and feathering borders. The tumor cells had oval, hyperchromatic nuclei, with chromatin clumping and small nucleoli. Histologic examination disclosed endometrial-type glands with a bland, isolated, mainly rounded appearance and these glands were widely scattered deep into the cervical stroma with only scant stromal reaction. An association of MDEA with tubo-endometrioid metaplasia or cervical endometriosis has been suggested by identifying the tubo-endometrioid glands in the vicinity of the MDEA.

J Pathol Transl Med : Journal of Pathology and Translational Medicine