Rhabdoid colonic tumors are very rare lesions with just a few publications describing such neoplasms. Even more unusual for these lesions are their primary rectal locations, with only two brief case reports having been published on that subject to date. We present a case of a composite rhabdoid rectal carcinoma in a 49-year-old male. The tumor behaved very aggressively, with rapid patient demise despite radical surgery and intensive postoperative chemotherapy (FOLFIRI [folinic acid {leucovorin}, fluorouracil {5-fluorouracil}, and irinotecan] and FOLFOX4 [folinic acid {leucovorin}, fluorouraci {5-fluorouracil}, and oxaliplatin]). Pathologic examination was supportive of a rhabdoid carcinoma, with a compatible immunohistochemical profile, demonstrating synchronous expression of vimentin and epithelial markers in the tumor cells. In addition, BRAF V600E gene mutation, together with a wild-type KRAS gene, was identified, and no evidence of microsatellite instability based on MLH1, MSH2, MSH6, and PMS2 immunophenotypes, i.e., no loss of expression for all 4 markers, was observed. Our reported case confirms previously published observations of the clinical aggressiveness and the poor therapeutic response for rhabdoid tumors.

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• Undifferentiated Rhabdoid Carcinoma of the Gastrointestinal Tract: A Rare and Aggressive Malignancy
  Justin M Hsieh, Zara Summers, Shinn Yeung
  Cureus.2025;[Epub]     CrossRef
• 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
• Elusive and Aggressive: Unraveling SMARCB1/INI1-Deficient Undifferentiated Carcinoma With Rhabdoid Features Arising From the Colon: A Case Report and Comprehensive Literature Review
  Xiaoqin (Lucy) Liu, Diana Agostini-Vulaj
  International Journal of Surgical Pathology.2024; 32(8): 1582.     CrossRef
• A Case of Ascending Colon Carcinoma with Rhabdoid Features
  Masanari YAMADA, Masanori ICHINOSE, Atsushi HIRATA, Yoshihiro KURATA, Kimiaki FUKASAWA, Hisahiro MATSUBARA
  Nihon Rinsho Geka Gakkai Zasshi (Journal of Japan Surgical Association).2024; 85(6): 755.     CrossRef
• Case report: administration of immune checkpoint inhibitor for SMARCB1 (INI1)-negative rhabdoid carcinoma with microsatellite instability (MSI)-high in the right colon
  Toshinori Kobayashi, Yuki Matsui, Hisanori Miki, Masahiko Hatta, Mitsuaki Ishida, Hironaga Satake, Mitsugu Sekimoto
  Surgical Case Reports.2023;[Epub]     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
• BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas
  Elena Bolzacchini, Nunzio Digiacomo, Cristina Marrazzo, Nora Sahnane, Roberta Maragliano, Anthony Gill, Luca Albarello, Fausto Sessa, Daniela Furlan, Carlo Capella
  Cancers.2019; 11(9): 1252.     CrossRef
• Pathologic complete response to bevacizumab-FOLFIRI in metastatic colonic undifferentiated carcinoma with rhabdoid features
  Tien-Chan Hsieh, Hung-Wei Liu, Chao-Wen Hsu
  Journal of Cancer Research and Practice.2019; 6(3): 140.     CrossRef
• 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
  Journal of Medical Case Reports.2018;[Epub]     CrossRef
• SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior
  Jennifer L Sauter, Rondell P Graham, Brandon T Larsen, Sarah M Jenkins, Anja C Roden, Jennifer M Boland
  Modern Pathology.2017; 30(10): 1422.     CrossRef
• Case Report of Rhabdoid Colon Cancer and Review of Literature
  Aparna Kalyan, Gurleen Pasricha, Dulabh Monga, Aatur Singhi, Nathan Bahary
  Clinical Colorectal Cancer.2015; 14(1): e5.     CrossRef