Since the first publication of a rhabdoid cancer, described as an infrequent variant of Wilms' tumor, several cases of extrarenal rhabdoid tumor have been reported in the literature. Here, we report on a primary rhabdoid cancer of the small intestine, and give a review of the data available in the literature. An 81-year-old male patient was admitted to the Department of Internal Medicine with subileus and bloody stools. While gastroscopy and colonoscopy failed to identify a neoplastic disease, abdominal US and CT raised the suspicion of a malignancy involving the descending colon. Ileus-mandated laparotomy disclosed an obstructive tumor of the ileum. This segment was resected, followed by several relapses, and the patient died after a 7-month-period of non-relenting deterioration. Histological work-up of the numerous biopsies disclosed a cellular, solid, necrotic, hemorrhagic, and invasive tumor. The cancer cells were round-to-polygonal, and scattered bizarre pleomorphic cells with prominent nucleoli were common. The overall appearance of the neoplasm was highly similar in every specimen. The immunohistochemical phenotype of the malignant cells indicated rhabdoid characteristics. A thorough search of the literature revealed additional 22 cases of primary rhabdoid GI cancers. This report aims to call the pathologist's attention to the differential diagnostic importance of this entity.
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http://dx.doi.org/10.1016/j.prp.2009.02.013 | DOI Listing |
J Pathol
January 2025
SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Université Paris Cité, Paris, France.
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
The Geoffrey Jefferson Brain Research Centre, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Background: Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.
View Article and Find Full Text PDFVirchows Arch
January 2025
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Liver masses are common in children, however primary malignant neoplasms are rare, representing only 1% of all pediatric cancers. Hepatocellular neoplasms are the most common primary liver malignancies and hepatoblastoma (HB) is the most frequently diagnosed. The incidence of HB, which is increasing, is approximately of 2 cases per million in the United States, followed by hepatocellular carcinoma (HCC).
View Article and Find Full Text PDFBackground: Atypical teratoid rhabdoid tumor (ATRT) is the most common malignant brain tumor in infants, and more than 60% of children with ATRT die from their tumor. ATRT is associated with mutational inactivation/deletion of , a member of the SWI/SNF chromatin remodeling complex, suggesting that epigenetic events play a critical role in tumor development and progression. Moreover, disruption of SWI/SNF allows unopposed activity of epigenetic repressors, which contribute to tumorigenicity.
View Article and Find Full Text PDFAdv Anat Pathol
November 2024
Department of Radiology, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil.
Horseshoe kidney is a rare congenital anomaly with an unusually higher frequency of neuroendocrine tumors. Symptoms are rare, and, in most of the cases, are incidentally diagnosed. The clinical behavior of these tumors is heterogeneous and can be difficult to predict based on histology alone.
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