Case Report of Rhabdoid Colon Cancer and Review of Literature

Kalyan, Aparna; Pasricha, Gurleen; Monga, Dulabh; Singhi, Aatur D.; Bahary, Nathan

doi:10.1016/j.clcc.2014.09.013

Cited by 7 publications

(7 citation statements)

References 11 publications

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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%

“…Fluoropyrimidine- and oxaliplatin-based chemotherapy were the regimens mostly used as first line therapy in a metastatic setting. Other chemotherapy regimens used comprehended irinotecan (FOLFIRI scheme) [6] and anthracycline/platinum (EOX scheme) [9]. Only two patients [6,12] received more than one line of chemotherapy in a metastatic setting and only one patient received monoclonal antibody (both antivascular endothelial growth factor (anti-VEGF) and anti–epidermal growth factor (anti-EGFR)) with no benefit [12].…”

Section: Resultsmentioning

confidence: 99%

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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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Section: Resultsmentioning

confidence: 99%

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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“…Malignant rhabdoid tumors (MRTs) are aggressive neoplasms that were first described in young children with renal primary neoplasms [ 10 , 11 ]. MRTs were later seen to arise at different locations, such as the central nervous system (CNS) [ 5 ], liver [ 6 ], genitourinary tract [ 7 ], and GI tract [ 8 ], known with the name of extrarenal rhabdoid tumors (MERTs). The histologic hallmark of MERTs is a centrically located and large nucleus, prominent nucleoli, abundant and eosinophilic cytoplasm, and paranuclear inclusions of intermediate filaments and abundant mitotic figures.…”

Section: Discussionmentioning

confidence: 99%

“…2010 [ 9 ] 23 F Rectum 6×5 Miles resection Pure Alive (17 mo) None Yes + RT Remo, et al 2012 [ 5 ] 73 F Right colon 10×4 R hemicolectomy Composite Dead (6 mo) Nodes Yes Pancione, et al . 2011 [ 6 ] 71 F Ascending colon 10×10 R hemicolectomy Pure Dead (8 mo) Liver, peritoneum nodes Yes Agaimy, et al 2014 [ 23 ] 79 M Cecum 9×5×2 R hemicolectomy Pure Dead (6 mo) 1 regional node Romera Barba, et al 2014 [ 24 ] 77 M Descending colon - L hemicolectomy Pure Dead (2 mo) None Baba, et al 2014 [ 25 ] 45 F - - Resection Composite Dead (6 wk) Not reported Cho, et al 2015 [ 26 ] 73 M Cecum 4×x3 R hemicolectomy Composite Alive (1 mo) Nodes Kalyan, et al 2015 [ 7 ] 31 F Cecum 7 R hemicolectomy Composite Dead (4 mo) Nodes Yes Samalavicius, et al . 2013 [ 8 ] 49 M Rectum 7 …”

Section: Literature Reviewmentioning

confidence: 99%

“…A third patient received a trial of bevacizumab and cetuximab and had an 8-month survival [ 6 ]. A fourth patient received one cycle of 5-flurouracil, leucovorin, and oxaliplatin (mFOLFOX6), palliative radiosurgery to the rib, and three cycles of epirubicin, capecitabine and oxaliplatin (EOX), but she expired within 4 months of her diagnosis [ 7 ]. Samalavicius et al treated their patient with FOLFOX4 and leucovorin, flurouracil, and irinotecan (FOLFIRI) regimen, with a survival of 7 months [ 8 ].…”

Section: Literature Reviewmentioning

confidence: 99%

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Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature

et al. 2018

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BackgroundMalignant extrarenal rhabdoid tumor of the gastrointestinal tract is rarely reported in the literature. It is characterized by poor prognosis and aggressive metastatic features.A literature review evidenced only 19 cases, with poor outcome.Case presentationWe report a case of a colonic “pure” malignant extrarenal rhabdoid tumor with metastatic nodes in a 65-year-old Caucasian man. He was treated surgically with no recurrence, no adjuvant chemotherapy, and with 4-year survival without disease at the time of the submission of this article.ConclusionsWe present an extraordinary case of long-term survival due to the extended surgical treatment.We believe that the absence of organ metastasis at presentation is a positive prognostic factor, although pathology confirmed node involvement (13/38 positive) on microscopy.

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SMARCB1/INI1-Deficient Poorly Differentiated Carcinoma of the Colon With Rhabdoid Features—A Rare Tumor With Serrated Phenotype: Case Report and Review of Literature

et al. 2023

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Poorly differentiated colonic carcinoma with rhabdoid features is a rarely described entity. Our knowledge regarding the molecular phenotype of the tumor is evolving. We herein report a similar tumor with rhabdoid differentiation identified in the splenic flexure, which on histological examination showed a poorly differentiated phenotype with epithelioid to spindled morphology, tumor giant cells, and rhabdoid differentiation. The tumor was mismatch repair-proficient, deficient of INI1/SMARCB1, KRAS mutated (A146×), BRAFV600E mutated (c.1799T > A), and NRAS wild-type, indicating serrated differentiation in the tumor. The patient died after 3.5 months post-surgery. INI1-deficient poorly differentiated carcinoma of the colon is a rare, aggressive colonic malignancy showing a serrated phenotype. Routine identification and subtyping are important keeping in mind the distinct tumor phenotype, resistance to conventional chemotherapy, and dismal prognosis.

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Case Report of Rhabdoid Colon Cancer and Review of Literature

Cited by 7 publications

References 11 publications

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature

SMARCB1/INI1-Deficient Poorly Differentiated Carcinoma of the Colon With Rhabdoid Features—A Rare Tumor With Serrated Phenotype: Case Report and Review of Literature

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