Journal of Pathology and Translational Medicine

Case Studies

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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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

Rhabdoid Colorectal Carcinomas: Reports of Two Cases: Sang Hwa Lee, Hyesil Seol, Wook Youn Kim, So Dug Lim, Wan Seop Kim, Tae Sook Hwang, Hye Seung Han; Korean J Pathol. 2013;47(4):372-377. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.372

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Abstract PDF

Rhabdoid colorectal carcinomas are very rare and only 10 cases have been previously reported. We report two cases of rhabdoid colorectal carcinoma, one arising in the sigmoid colon of a 62-year-old man and another in the rectum of an 83-year-old woman. In both cases, the patients had advanced tumors with lymph node metastases. The tumors mostly showed a diffuse arrangement with rhabdoid features and small glandular regions were combined. Transitional areas from the adenocarcinomas to the rhabdoid tumors were also noted. Adenocarcinoma cells were positive for mixed cytokeratin (CK), CK20 and epithelial membranous antigen (EMA), but focal positive for vimentin. The rhabdoid tumor cells were positive for mixed CK, but focal positive or negative for CK20 and EMA. In addition, they were diffusely positive for vimentin, but negative for desmin. The histological and immunohistologial findings of these two cases suggest that the rhabodid tumor cells originated from dedifferentiated adenocarcinomas.

Citations

Citations to this article as recorded by

SMARCB1/INI1-Deficient Poorly Differentiated Carcinoma of the Colon With Rhabdoid Features—A Rare Tumor With Serrated Phenotype: Case Report and Review of Literature
Shivali Maurya, Sujata Yadav, Subham Bhowmik, Jasmine Dhal, Lalita Mehra, Raju Sharma, Asuri Krishna, Atul Sharma, Adarsh Barwad, Prasenjit Das
International Journal of Surgical Pathology.2024; 32(1): 187. CrossRef
Emerging and under-recognised patterns of colorectal carcinoma morphologies: a comprehensive review
Yuho Ono, Osman Yilmaz
Journal of Clinical Pathology.2024; : jcp-2023-208816. CrossRef
A Rare Case of Undifferentiated Rhabdoid Carcinoma of the Colon
Syed Alishan Nasir, Ronak Patel, Lalaine Ruiz, Michael Bush
Cureus.2022;[Epub] CrossRef
INI1-negative colorectal undifferentiated carcinoma with rhabdoid features and postoperative rapidly growing liver metastases: a case report and review of the literature
Masatsugu Kojima, Toru Miyake, Tomoyuki Ueki, Hiroyuki Ohta, Ryoji Kushima, Masanori Shiohara, Hiroo Mizuta, Hiroya Iida, Tsuyoshi Yamaguchi, Sachiko Kaida, Katsushi Takebayashi, Hiromitsu Maehira, Yusuke Nishina, Tomoharu Shimizu, Eiji Mekata, Masaji Tan
Surgical Case Reports.2021;[Epub] CrossRef
Undifferentiated carcinoma of the transverse colon with rhabdoid features that developed during treatment of non-small cell lung carcinoma with pembrolizumab: a case report
Yuya Ashitomi, Mitsuhiro Yano, Michihisa Kono, Takefumi Suzuki, Ichiro Kawamura, Shinji Okazaki, Yukinori Kamio, Osamu Hachiya, Yuka Urano, Fuyuhiko Motoi
Surgical Case Reports.2020;[Epub] CrossRef
BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas
Bolzacchini, Digiacomo, Marrazzo, Sahnane, Maragliano, Gill, Albarello, Sessa, Furlan, Capella
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Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature
Francesco D’Amico, Alessandra Bertacco, Maurizio Cesari, Claudia Mescoli, Giorgio Caturegli, Gabriel Gondolesi, Umberto Cillo
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Poorly differentiated cecal adenocarcinoma showing prominent rhabdoid feature combined with appendiceal mucinous cystadenoma: A case report and review of the literature
IN-JU CHO, SUNG-SOO KIM, YOUNG-DON MIN, MUN-WHAN NOH, RAN HONG
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A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature
E. Moussaly, J. P. Atallah
Case Reports in Oncological Medicine.2015; 2015: 1. CrossRef
Case Report of Rhabdoid Colon Cancer and Review of Literature
Aparna Kalyan, Gurleen Pasricha, Dulabh Monga, Aatur Singhi, Nathan Bahary
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Malignant Rhabdoid Tumor of the Colon: A Case Report
Elena Romera Barba, Ainhoa Sánchez Pérez, Carlos Duque Pérez, José Antonio García Marcilla, José Luis Vázquez Rojas
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Tumor rabdoide maligno de colon: a propósito de un caso☆
Elena Romera Barba, Ainhoa Sánchez Pérez, Carlos Duque Pérez, José Antonio García Marcilla, José Luis Vázquez Rojas
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Original Article

Prognostic Significance and Nature of Rhabdoid Features in Renal Cell Carcinoma.: Misun Choe, Ji Young Park, Ilseon Hwang, Sang Pyo Kim; Korean J Pathol. 2011;45(4):371-378.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.4.371

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Abstract PDF: BACKGROUND
Recent reports have indicated that renal cell carcinoma (RCC) with rhabdoid features follows an aggressive clinical course. We investigated the prognostic significance and nature of the rhabdoid component.
METHODS
We retrospectively analyzed the incidence and clinicopathologic characteristics of RCC with rhabdoid features in 174 radical nephrectomy cases. The specimens were examined histologically and immunohistochemically.
RESULTS
Twelve of the 174 RCC cases (6.9%) showed rhabdoid features. Histologically, all the tumors with rhabdoid features were of the clear cell type. The presence of rhabdoid features was significantly associated with higher Fuhrman's nuclear grade and higher pathologic tumor stage at presentation. Among the 12 patients who showed the rhabdoid component, nine (75%) developed metastasis and seven (58.3%) died of disease-related causes. The presence of rhabdoid features was independently associated with metastasis and disease-related mortality. The rhabdoid cells were positive for vimentin; variably positive for pan-cytokeratin, epithelial membrane antigen, and CD10; and negative for cytokeratin 7, smooth muscle actin, desmin, E-cadherin, and c-Kit. No case showed loss of integrase interactor-1; one was p53 positive, and five were insulin-like growth factor mRNA binding protein 3 positive. The Ki-67 labeling index was 1-25% (mean, 5.5%).
CONCLUSIONS
The rhabdoid component is an independent prognostic factor for metastasis of RCC; therefore, identification of this component is critical.

Case Reports

Malignant Rhabdoid Tumor of the Kidney in an Adult: A case report.: Sang Yong Lee, Dae Cheol Kim, Seo Hee Rha, Sook Hee Hong; Korean J Pathol. 1996;30(6):539-543.

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Abstract PDF: Malignant rhabdoid tumor is a distinct renal tumor in pediatric age group and extremely rare in adults. It was originally described as a rhabdomyosarcomatoid variant of Wilms' tumor. But subsequent studies failed to confirm myogenous differentiation, so the rhabdoid tumor is now considered to be a distinct and unique disease type of highly malignant renal tumor, histogenetically unrelated to Wilms' tumor. However the histogenesis have not been clearly defined until now. We report a case of malignant rhabdoid tumor of the kidney in a 34-year-old man who represented with a left abdominal mass. Grossly, a large mass occupying most of the left kidney except for a part of upper pole was invading beyond renal capsule and the perirenal soft tissue. It measured 18x14 cm in dimension and was soft, lobulated and yellowish gray with large areas of hemorrhage and necroses. Microscopically, the tumor mass was composed of sheets of round or polygonal neoplastic cells growing in a solid pattern. These tumor cells were medium to large in size with ample cytoplasm containing recognizable eosinophilic inclusion and had an eccentrically located, large nucleus with one or a few prominent nucleoli. Mitotic figures were frequently observed. Ultrastructurally, the tumor cells contained whorled filamentous inclusions corresponding to vimentin, epithelial membrane antigen and cytokeratin in immunostaining.

Malignant Rhabdoid Tumor of the Kidney: A report of two cases: An immunohistochemical and ultrastructural study.: Seung Sam Paik, Moon Hyang Park; Korean J Pathol. 1996;30(8):706-714.

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Abstract PDF: Malignant rhabdoid tumor of the kidney(MRTK), an uncommon renal tumor found in children, is one of the most lethal neoplasms of early life. It was first recognized during a review of the first National Wilms' Tumor Study(NWTS) as an extremely aggressive neoplasm whose appearance often mimicks those of skeletal muscle tumors, but without histological, immunohistochemical, and ultrastructural markers of rhabdomyogenesis. Herein we present two cases of malignant rhabdoid tumor of the kidney, one occurring in a 6-month-old male baby, and the other in a 123-month-old girl. They presented a huge tender mass on the left upper quadrant of the abdomen. Microscopically, each case was very cellular and composed of sheets of round or polygonal cells with ample cytoplasm often containing eosinophilic filamentous inclusions and round vesicular nuclei with prominent nucleoli. Case 1 showed lymphomatoid pattern, but case 2 showed foci of several variant patterns associated with classic appearances. The tumor cells showed a strong reactivity for vimentin in both cases. Unusually, case 2 showed focal reactivity for epithelial membrane antigen(EMA), muscle specific actin, and smooth muscle actin. Ultrastructural study confirmed the presence of whorled bundles of intermediate filaments in paranuclear position, and a prominent nucleolus.

Malignant Rhabdoid Tumor of the Cerebellum in an Adult: A case report.: Young Min Kim, Jae Hee Suh, Tae Sook Kim, Shin Kwang Khang; Korean J Pathol. 1998;32(6):460-465.

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Abstract: Malignant rhabdoid tumor (MRT) is a rare and highly aggressive neoplasm of infancy and childhood. Although it was originally described and most frequently reported in the kidney, it may occur in various extra-renal sites such as the liver, thymus, and soft tissue. In the last decade primary central nervous system (CNS) MRTs have been reported in both the supra- and infratentorial compartments. Patients with CNS MRT were generally below the age of two and reports in adults are extremely rare. This is a case of primary cerebellar MRT in a 24-year-old woman, who had presented with intermittent headache, vocal cord palsy, and cerebellar dysfunctions such as abnormal finger to nose test and tandem gait. By magnetic resonance imaging scan, a well-enhancing solid mass was demonstrated at the posterior fossa filling the 4th ventricle, which extended into the medulla and cervical cord via the foramen of Magendie. Histologically, the monotonous polygonal tumor cells were arranged in diffuse sheet with occasional hemorrhagic necrosis. The nuclei were vesicular and eccentrically located due to eosinophilic, PAS-positive, intracytoplasmic inclusions with prominent nucleoli. They were diffusely or focally immunoreactive for vimentin, neurofilament, cytokeratin, GFAP, synaptophysin, and smooth muscle actin, while epithelial membrane antigen and desmin were negative. Ultrastructurally, the polyhedral tumor cells were densely packed with primitive intercellular junctions. Scanty fibrillar intermediate filaments were intermingled with cellular organelles. Postoperatively, craniospinal irradiation and systemic chemotherapy have been done and she has been free of tumor recurrence during the 13 months' follow-up periods.

Desmoplastic Small Round Cell Tumor of the Sigmoid Colon.: Kwang Il Kim, Jung Yeol Kim, Insun Kim; Korean J Pathol. 2001;35(5):451-454.

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Abstract PDF: Desmoplastic small round cell tumor (DSRCT) is a distinctive disease with a multidirectional differentiation and an aggressive clinical course. It mostly occurs in mesothelial-lined sites, and tumors originating in the paratesticular region, pleura and central nervous system are rarely reported. We report a case of DSRCT occurring in the sigmoid colon of a 39-year-old man, which was difficult to distinguish from small cell neuroendocrine carcinoma. The tumor was characterized by small round cells with irregular nests, cords, or rosette-like structures in the striking desmoplastic stroma. Some tumor cells had a rhabdoid feature with eosinophilic cytoplasmic globules. The tumor cells showed immunoreactivity for cytokeratin, epithelial membrane antigen, vimentin, desmin, neuron-specific enolase and Leu-7. Electron microscopic finding revealed perinuclear globoid whorls of intermediate filaments pushing the nucleus eccentrically.

Extrarenal Malignant Rhabdoid tumor: A Case Report.: Sang Yong Lee, Dae Cheol Kim, Seo Hee Rha, Sook Hee Hong, Tae Hun Kang, Young Ho Lee, Kyoung Jin Nam, Jin Sook Jeong; Korean J Cytopathol. 1996;7(1):69-74.

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Abstract PDF: Malignant rhabdoid tumor is a distinct renal tumor in the pediatric age group. It was originally described as a rhabdomyosarcomatoid variant of Wilms tumor. However, subsequent studies failed to confirm myogenous differentiation, so it is now considered to be a distinct and unique type of highly malignant tumor, histogenetically unrelated. Although extrarenal forms of this tumor are rare, several examples have been described in other sites, especially the liver, prostate, paravertebral area, urinary bladder and soft tissue. We experienced a case of malignant rhabdiod tumor located in the intraabdominal cavity in a 10 month-old boy. Smear of peritoneal fluid showed round, polygonal and irregular shaped cells with large nuclei, ample cytoplasm containing Jight pink "to purple cytoplasmic inclusions, and one or a few prominent nucleoli. Immunocytochemistry revealed positivity to cytokeratin, epithelial membrane antigen and vimentin, and negativity to desmin and neuron-specific enolase. These distinct cytologic appearance and immunophenotypes were most consistent with a diagnosis of extrarenal malignant rhabdoid tumor. The cytoplasmic inclusions were correlated with eosinophilic inclusions seen in histologic section and electron microscopy confirmed this interpretation, showing filamentous aggregations in the cytoplasms of the tumor cells.

Adenocarcinoma of the Sigmoid Colon with Prominent Rhabdoid Features: A Case Report.: Hoon Kyu Oh, Chang Ho Cho, Yoon Seup Kum; Korean J Pathol. 2008;42(1):63-65.

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Abstract PDF: Colorectal adenocarcinoma with rhabdoid features is extremely rare and only two cases have been previously reported. We report here on a case of colorectal adenocarcinoma with prominent rhabdoid features in a 69-year-old female. The specimen was an ulcerative mass from the sigmoid colon, and it measured 3.5x3 cm. Microscopic examination of the tumor showed mostly rhabdoid cells that had eccentrically located large nuclei and foci of glandular formation. A transitional area from the poorly differentiated adenocarcinoma to the rhabdoid tumor was also noted. Immunohistochemical studies showed strong reactivity of the glandular forming cells for pan-cytokeratin, and the cells were occasionally positive for vimentin. The cells with rhabdoid features were diffusely positive for vimentin and focally positive for pan-cytokeratin. These results suggested that the cells with rhabdoid features originated from dedifferentiated primary adenocarcinoma. Since colorectal adenocarcinoma with rhabdoid features is highly aggressive and unresponsive to conventional therapy, making the preoperative diagnosis is important to facilitate the treatment.

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