Malignant rhabdoid tumour in an adult kidney: A case report

Abstract

Malignant rhabdoid tumours (MRTs) in the kidney are rare paediatric tumours that are extremely rare in adults. We herein report the case of an adult patient with a renal MRT. A 79-year-old Japanese woman was found to have a tumour sized 63x48 mm in the left kidney, in addition to multiple metastatic bone and lymph node lesions. The needle biopsy specimen obtained from the patient's kidney revealed tumour cells with rhabdoid characteristics: The cells appeared large, round or polygonal, with eccentrically located nuclei and prominent nucleoli. Immunohistochemically, the tumour cells were positive for vimentin, epithelial membrane antigen, CAM 5.2, and p53, and negative for INI1, cytokeratin (CK)7, CK20, α-methylacyl-CoA racemase, S100, CD45, renal cell carcinoma marker, anaplastic lymphoma kinase, α-smooth muscle actin, desmin, MyoD, myogenin, human melanoma black 45 and melan A. Therefore, the tumour was diagnosed as an MRT located in the kidney. Although the patient was treated with axitinib, a tyrosine kinase inhibitor, the renal tumour and its metastatic lesions continued to progress, and the number of metastatic lesions increased. The patient succumbed to the disease 5 months after the first hospital visit. The disease progression was rapid, with a poor prognosis, consistently with previous reports that of MRTs in the adult kidney.

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

“…To obtain papers on MRT of the adult kidney, we searched for previously published case reports in PubMed. Among the results, we found eight case reports of pure MRT of the native kidney arising in an adult patient that was written in English [2][3][4][5][6][7][8][9]. Clinicopathologic characteristics of the cases are summarized in Tables 2 and 3 [2][3][4][5][6][7][8][9].…”

“…It was thought of as a tumor of the pediatric group until recently. Since the first reported case by Lowe et al [2] in 1990, only limited case reports have been published on MRT of the kidney in adult patients [2][3][4][5][6][7][8][9].…”

Integrase Interactor 1 (INI-1) Deficient Renal Cell Carcinoma

“…In another study, pediatric patients who were diagnosed with ATRTs and non-central nervous system MRTs were found to exhibit heterozygous germline INI-1 abnormalities [6]. In a study involving mice, researchers found that homozygous knockout of the INI-1 gene resulted in embryonic death, while heterozygous knockout resulted in normal appearance at birth but was found to later develop tumors histologically similar to MRT in later life [7].…”

Expressão de Ber-EP4 e sua correlação com prognóstico em carcinomas de células escamosas de cabeça e pescoço

“…de Ber-EP4 pode ser uma ferramenta válida no estabelecimento do diagnóstico de CCB intraoral (Del Rosario et al, 2001 (Liu et al, 2019), carcinoma adenoide cístico de glândula salivar (Yang et al, 2019a), carcinoma de células renais (Yang et al, 2019b), sarcoma epitelióide (Chen et al, 2019), tumor rabdóide maligno (Okumura et al, 2019). Além disso, carcinomas de células escamosas de endométrio com vírus do papiloma humano também apresentou a expressão de EMA (Darre et al, 2019).…”