A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature

Moussaly, Elias; Atallah, Jean-Paul

doi:10.1155/2015/531348

Cited by 10 publications

(9 citation statements)

References 29 publications

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“…Diagnostic terminologies and definition for undifferentiated carcinomas were not consistent in the upper GI and lower GI tracts according to the fifth edition of the World Health Organization Classification of Digestive Tumours, as they occurred in the esophagus, stomach, small intestine, and pancreases, which may have variable glandular components or areas of transition to adenocarcinoma 1. The terminology “carcinomas with sarcomatoid components and undifferentiated carcinoma” was used when referring to the colon and rectum 2,43,44. Indeed, spindle cell components were present in the undifferentiated carcinomas in our series, as well as in the results of Agaimy et al2 The similar tumor in the endometrium is termed undifferentiated and dedifferentiated carcinoma according to whether it contains an additional component of differentiated adenocarcinoma 26.…”

Section: Discussionsupporting

confidence: 54%

SWI/SNF Complex-deficient Undifferentiated Carcinoma of the Gastrointestinal Tract

Chang

Sheng

Wang

et al. 2021

American Journal of Surgical Pathology

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Undifferentiated carcinoma of the gastrointestinal tract has variable rhabdoid features. Expression of switch/sucrose nonfermenting (SWI/SNF) complex subunits is reportedly lost in a portion of cases; however, the prognostic significance of this loss remains unknown. Herein, 30 undifferentiated carcinoma cases were assessed for the expression of 4 SWI/SNF complex subunits (SMARCB1, SMARCA2, SMARCA4, and ARID1A). Tumor origin sites comprised stomach (40.0%), large intestine (20.0%), small intestine (16.7%), lower esophagus and stomach fundus (13.3%), ileocecal junction (3.3%), rectum (3.3%), and pancreas (3.3%). The tumors were composed of epithelioid neoplastic cells arranged in diffuse solid or discohesive sheets, nests, cords, poor cohesive pseudoglandular, and trabecular patterns. Rhabdoid tumor cells were identified in 66.7% (20/30) of cases. In total, 29/30 (96.7%) showed complete loss of at least 1 SWI/SNF subunit: SMARCA4 − /SMARCA2 − (11), isolated SMARCA4 − (2), SMARCA4 − /SMARCA2 unknown (6), isolated SMARCA2 − (7), SMARCA2 − /ARID1A − (1), and isolated ARID1A − (2). Negative or decreased expression ( ≤ 10% positive) of pan-cytokeratin was observed in 58.6% (17/29) of cases. In addition, 66.7% (20/30) of patients were late-stage (III or IV), and 65.2% (15/23) of stage IIB to IV patients succumbed to the disease at a mean clinical follow-up of 12.7 months. Specifically, patients with loss of SMARCA4 expression had the worst overall survival (P = 0.028) and disease-free survival (P = 0.006) rates, compared with those with SMARCA4 expression. The loss or decreased expression of epithelial markers is thus common in SWI/SNF complex-deficient undifferentiated carcinoma of the gastrointestinal tract, and loss of SMARCA4 correlates with poor prognosis.

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Section: Discussionsupporting

confidence: 54%

SWI/SNF Complex-deficient Undifferentiated Carcinoma of the Gastrointestinal Tract

Chang

Sheng

Wang

et al. 2021

American Journal of Surgical Pathology

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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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“…There is no standard therapeutic protocol for these tumors, and previous reports indicate a poor prognosis [17,18]. Moussaly et al reported that most patients with colorectal rhabdoid tumors died within 6 months after surgery [19]. However, there were few reports of cases involving long-term survival of more than 1 year [1,16,20,21].…”

Section: Discussionmentioning

confidence: 99%

Undifferentiated carcinoma of the transverse colon with rhabdoid features that developed during treatment of non-small cell lung carcinoma with pembrolizumab: a case report

et al. 2020

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Background: Undifferentiated carcinoma of the colon is rare, and its prognosis is very poor. We report a case of undifferentiated carcinoma of the colon with rhabdoid features developed during treatment of non-small lung carcinoma (NSCLC) with pembrolizumab. Case presentation: A 58-year-old man was diagnosed with transverse colon cancer during chemotherapy with pembrolizumab for NSCLC. Laparoscopic right hemicolectomy was performed. The histopathological diagnosis was undifferentiated carcinoma with rhabdoid features and lymph node metastasis. Immunohistochemically, programmed death ligand 1 (PD-L1) showed positivity. The microsatellite instability (MSI) status was low. He continued to receive pembrolizumab for NSCLC, and there have been no signs of colon cancer recurrence and progression of NSCLC for 15 months. Conclusion: We present the case of an undifferentiated carcinoma of the transverse colon with rhabdoid features. The development of the tumor with the expression of PD-L1 during pembrolizumab might have been associated with the low MSI.

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A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature

Cited by 10 publications

References 29 publications

SWI/SNF Complex-deficient Undifferentiated Carcinoma of the Gastrointestinal Tract

SWI/SNF Complex-deficient Undifferentiated Carcinoma of the Gastrointestinal Tract

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Undifferentiated carcinoma of the transverse colon with rhabdoid features that developed during treatment of non-small cell lung carcinoma with pembrolizumab: a case report

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