A novel case of rhabdoid colon carcinoma associated with a positive CpG island methylator phenotype and BRAF mutation

Pancione, Massimo; Blasi, Arturo Di; Sabatino, Lina; Fucci, Alessandra; Dalena, Anna Maria; Palombi, Natalia; Carotenuto, Pietro; Aquino, Gabriella; Daniele, Bruno; Normanno, Nicola; Colantuoni, Vittorio

doi:10.1016/j.humpath.2010.10.016

Cited by 27 publications

(59 citation statements)

References 14 publications

(51 reference statements)

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“…This is in contrast to the pure type, where the tumors are composed exclusively of rhabdoid cells, without any other epithelial component. In total, five of the nine cases previously reported were composite type, and four cases were pure type (2–9). The present case was determined to be composite type RT, concurrent with mucinous adenoma of appendix.…”

Section: Discussionmentioning

confidence: 93%

“…Of these, RTs of the colon are extremely rare, and to the best of our knowledge, only nine cases have been previously reported in the English language literature (2–9). Histologically, RT is characterized by the unique morphological feature of proliferating rhabdoid cells, which have an abnormally located large nucleus and prominent nucleoli, and a typical eosinophilic inclusion of aggregated intermediate filament (12,15).…”

Section: Discussionmentioning

confidence: 96%

“…All rhabdoid colorectal tumors (RCTs), including those previously reported and the present case, are listed in Table I (2–9). All RCTs have similar clinicopathological features.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 89%

“…Tumors with similar clinicopathological characteristics have been subsequently reported in a number of extrarenal sites and associated with an unfavorable prognosis (2). Of these RTs, colorectal cancers with rhabdoid features are extremely rare, and to date, only nine cases have been previously reported (2–9). The most noteworthy morphological feature is the strongly and homogeneously acidophilic cytoplasm of the tumor cells (the result of packing by intermediate filament) with occasional lateral displacement of the nuclei (10).…”

Section: Introductionmentioning

confidence: 89%

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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

et al. 2015

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Extrarenal rhabdoid tumors (ERRTs) are extremely rare neoplasms; of these, colorectal ERRTs are the most rare, and only nine cases have been previously described in the English language literature. The current study reports the pathological features of a case of poorly differentiated cecal adenocarcinoma with prominent rhabdoid feature, which was combined with mucinous cystadenoma of the appendix in a 73-year-old male, and additionally reviews the previously reported cases. Microscopically, the majority of tumor cells were non-cohesive or loosely cohesive, with a polygonal morphology and prominent rhabdoid feature, showing eccentric vesicular nuclei, prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for cytokeratin (CK) and vimentin, but negative for CK20, CK7, desmin and smooth muscle actin. This indicated a diagnosis of poorly differentiated adenocarcinoma with prominent rhabdoid features, combined with appendiceal mucinous cystadenoma. At two months following surgery the patient succumbed to peritoneal seeding and metastasis of liver and bone The emergence of the rhabdoid phenotype is invariably associated with an aggressive and almost always fatal clinical course. The present case is the 10th example of such a tumor in the colon, and to the best of our knowledge, this is the first case of colonic rhabdoid tumor coinciding with appendiceal benign mucinous neoplasm.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 96%

“…All rhabdoid colorectal tumors (RCTs), including those previously reported and the present case, are listed in Table I (2–9). All RCTs have similar clinicopathological features.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 89%

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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

et al. 2015

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Supratentorial and spinal pediatric ependymomas display a hypermethylated phenotype which includes the loss of tumor suppressor genes involved in the control of cell growth and death

et al. 2011

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Epigenetic alterations, including methylation, have been shown to be an important mechanism of gene silencing in cancer. Ependymoma has been well characterized at the DNA copy number and mRNA expression levels. However little is known about DNA methylation changes. To gain a more global view of the methylation profile of ependymoma we conducted an array-based analysis. Our data demonstrated tumors to segregate according to their location in the CNS, which was associated with a difference in the global level of methylation. Supratentorial and spinal tumors displayed significantly more hypermethylated genes than posterior fossa tumors, similar to the ‘CpG island methylator phenotype’ (CIMP) identified in glioma and colon carcinoma. This hypermethylated profile was associated with an increase in expression of genes encoding for proteins involved in methylating DNA, suggesting an underlying mechanism. An integrated analysis of methylation and mRNA expression array data allowed us to identify methylation-induced expression changes. Most notably genes involved in the control of cell growth and death and the immune system were identified, including members of the JNK pathway and PPARG. In conclusion, we have generated a global view of the methylation profile of ependymoma. The data suggests epigenetic silencing of tumor suppressor genes is an important mechanism in the pathogenesis of supratentorial and spinal, but not posterior fossa ependymomas. Hypermethylation correlated with a decrease in expression of a number of tumor suppressor genes and pathways that could be playing an important role in tumor pathogenesis.Electronic supplementary materialThe online version of this article (doi:10.1007/s00401-011-0904-1) contains supplementary material, which is available to authorized users.

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Malignant Rhabdoid Tumor of the Colon: A Case Report

Barba

Pérez

et al. 2014

Cirugía Española (English Edition)

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A novel case of rhabdoid colon carcinoma associated with a positive CpG island methylator phenotype and BRAF mutation

Cited by 27 publications

References 14 publications

Poorly differentiated cecal adenocarcinoma showing prominent rhabdoid feature combined with appendiceal mucinous cystadenoma: A case report and review of the literature

Poorly differentiated cecal adenocarcinoma showing prominent rhabdoid feature combined with appendiceal mucinous cystadenoma: A case report and review of the literature

Supratentorial and spinal pediatric ependymomas display a hypermethylated phenotype which includes the loss of tumor suppressor genes involved in the control of cell growth and death

Malignant Rhabdoid Tumor of the Colon: A Case Report

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