Malignant rhabdoid tumor of the large intestine

Mastoraki, Aikaterini; Kotsilianou, Olympia; Papanikolaou, Ioannis S.; Foukas, Periklis; Sakorafas, George H.; Safioleas, Michael

doi:10.1007/s00384-009-0717-z

Cited by 12 publications

(6 citation statements)

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“…Although the histogenesis of rhabdoid tumors is unknown, all reported cases share similar histological, immunohistochemical, and ultrastructural findings 3. The ultrastructural findings of the reported cases showed that the rhabdoid cells had eccentric nuclei containing prominent nucleoli and paranuclear inclusions composed of intermediate filaments of the mesenchymal cytoskeleton 8,9,12,13. Although the percentage of tumor cells with a rhabdoid morphology that are needed in a carcinoma to constitute a composite rhabdoid tumor is still up for debate, the percentage of rhabdoid tumor cells in previously reported cases have been greater than 60% 10,17.…”

Section: Discussionmentioning

confidence: 79%

Rhabdoid Colorectal Carcinomas: Reports of Two Cases

et al. 2013

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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.

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Section: Discussionmentioning

confidence: 79%

Rhabdoid Colorectal Carcinomas: Reports of Two Cases

et al. 2013

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“…A careful review of the MEDLINE literature revealed 39 cases of CRbCs that should be added to our seven cases for a total of 46 cases [1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26] (Table S3). The patients were 22 males and 24 females aged 23–87 years (mean age: 64 years; median 69 years).…”

Section: Resultsmentioning

confidence: 99%

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Bolzacchini

Digiacomo

Marrazzo³

et al. 2019

Cancers

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Colorectal rhabdoid carcinomas (CRbCs) are very rare and aggressive cancers. The BRAF mutation and CpG island methylator phenotype have been reported to be common features of CRbCs. This study reviews the literature about CRbCs and analyzes the clinicopathological and molecular profiles of seven CRbCs characterized by large discohesive cells with abundant eosinophilic cytoplasm, showing hyaline inclusions and large rounded to bean-shaped nuclei. For comparison, we included four poorly differentiated medullary carcinomas (PDMCs) with focal aspects mimicking rhabdoid features. Overall survival was poor in both subsets, with 78% of patients dying of disease within 2–11 months. The main features of CRbCs were: Loss of/reduced SMARCB1/INI expression, intense vimentin immunostaining, and dense neutrophilic infiltration. The PDMCs were positive for pancytokeratin but negative for vimentin and showed moderate peritumoral/intratumoral CD8+ lymphocytes. All PDMCs showed SMARCB1(INI-1) expression. The coexistence of BRAF and TP53 mutations was observed in 80% of CRbCs and PDMCs. PDMCs always showed microsatellite instability and CpG island methylator phenotype (CIMP), while CRbCs were CIMP negative and exhibited microsatellite instability (MSI) in two out of seven cases. CRbCs are characterized by BRAF and TP53 mutations. Loss/reduced expression of nuclear SMARCB1/INI, intense vimentin immunostaining, dense neutrophilic infiltration, and low frequency of CIMP are useful markers to recognize these rare aggressive tumors.

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“…Even though it is a well-defined entity in kidneys and central nervous system in the pediatric age, it is seen rather rarely in soft tissues (3)(4)(5). Since it does not have specific symptoms, the disease is diagnosed at advanced stages (6). The disease is rarely observed in the stomach.…”

Section: Discussionmentioning

confidence: 99%

“…In most patients, remote metastasis develops shortly after diagnosis. The metastatic invasion pattern is multiple and in the form of transmural tumor implants in the duodenum and small intestine (6).…”

Section: Discussionmentioning

confidence: 99%