2,953 results match your criteria Malignant Rhabdoid Tumor


Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.

Brain Tumor Pathol 2022 Jun 24. Epub 2022 Jun 24.

Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities in SMARCB1 located in 22q11.2. We report a case of AT/RT associated with Phelan-McDermid syndrome (PMS) characterized by congenital developmental disorder, mental retardation, and ring chromosome 22 with 22q13. Read More

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Bromodomain and Extra-Terminal Protein Inhibitors: Biologic Insights and Therapeutic Potential in Pediatric Brain Tumors.

Pharmaceuticals (Basel) 2022 May 26;15(6). Epub 2022 May 26.

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, MA 02215, USA.

Pediatric brain tumors have surpassed leukemia as the leading cause of cancer-related death in children. Several landmark studies from the last two decades have shown that many pediatric brain tumors are driven by epigenetic dysregulation within specific developmental contexts. One of the major determinants of epigenetic control is the histone code, which is orchestrated by a number of enzymes categorized as writers, erasers, and readers. Read More

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Non-Wilms' renal tumors in children: experience with 139 cases treated at a single center.

BMC Urol 2022 Jun 22;22(1):89. Epub 2022 Jun 22.

Department of Urology, National Children's Medical Center, Beijing Children's Hospital of Capital Medical University, No. 56 Nanlishi St, Xicheng District, Beijing, 100045, China.

Background: Pediatric non-Wilms renal tumors (NWRTs), which comprise a small proportion of renal tumors, are a heterogeneous group of neoplasms with variable malignant potential, mortality, and response to treatment. We performed this study to determine the clinical characteristics, management and prognosis of children with Pediatric NWRTs.

Methods: Medical records of all patients (n = 139) treated for NWRTs over a 12-year period (2008. Read More

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Anatomical aspects and technical note of a modified retropharyngeal approach and reconstruction of the anterior occipitocervical junction.

Br J Neurosurg 2022 Jun 16:1-6. Epub 2022 Jun 16.

Advanced Center of Neurology and Neurosurgery (CEANNE), Grupo Hospitalar Conceicao, Porto Alegre, Brazil.

Surgery to expose the anterior occiptocervical junction (OCJ) is exacting, and optimal approaches are debatable. The close proximity of vital structures and difficult surgical access present a unique challenge to treat lesions in this area. Routine access to the upper anterior cervical spine remains limited. Read More

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The DNA methylation landscape of five pediatric-tumor types.

PeerJ 2022 10;10:e13516. Epub 2022 Jun 10.

Department of Biology, Brigham Young University, Provo, Utah, United States.

Fewer DNA mutations have been identified in pediatric tumors than in adult tumors, suggesting that alternative tumorigenic mechanisms, including aberrant DNA methylation, may play a prominent role. In one epigenetic process of regulating gene expression, methyl groups are attached at the 5-carbon of the cytosine ring, leading to 5-methylcytosine (5mC). In somatic cells, 5mC occurs mostly in CpG islands, which are often within promoter regions. Read More

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Wilms tumor reveals DNA repair gene hyperexpression is linked to lack of tumor immune infiltration.

J Immunother Cancer 2022 Jun;10(6)

Pathology, University of Chicago Department of Medicine, Chicago, Illinois, USA

Background: A T cell-rich tumor microenvironment has been associated with improved clinical outcome and response to immune checkpoint blockade therapies in several adult cancers. Understanding the mechanisms for lack of immune cell infiltration in tumors is critical for expanding immunotherapy efficacy. To gain new insights into the mechanisms of poor tumor immunogenicity, we turned to pediatric cancers, which are generally unresponsive to checkpoint blockade. Read More

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The immune landscape of solid pediatric tumors.

J Exp Clin Cancer Res 2022 Jun 11;41(1):199. Epub 2022 Jun 11.

College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.

Background: Large immunogenomic analyses have demonstrated the prognostic role of the functional orientation of the tumor microenvironment in adult solid tumors, this variable has been poorly explored in the pediatric counterpart.

Methods: We performed a systematic analysis of public RNAseq data (TARGET) for five pediatric tumor types (408 patients): Wilms tumor (WLM), neuroblastoma (NBL), osteosarcoma (OS), clear cell sarcoma of the kidney (CCSK) and rhabdoid tumor of the kidney (RT). We assessed the performance of the Immunologic Constant of Rejection (ICR), which captures an active Th1/cytotoxic response. Read More

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Application of Apparent Diffusion Coefficient Histogram Metrics for Differentiation of Pediatric Posterior Fossa Tumors : A Large Retrospective Study and Brief Review of Literature.

Clin Neuroradiol 2022 Jun 8. Epub 2022 Jun 8.

Department of Radiology, Division of Neuroradiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Purpose: This study aimed to evaluate the application of apparent diffusion coefficient (ADC) histogram analysis to differentiate posterior fossa tumors (PFTs) in children.

Methods: A total of 175 pediatric patients with PFT, including 75 pilocytic astrocytomas (PA), 59 medulloblastomas, 16 ependymomas, and 13 atypical teratoid rhabdoid tumors (ATRT), were analyzed. Tumors were visually assessed using DWI trace and conventional MRI images and manually segmented and post-processed using parametric software (pMRI). Read More

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Meningioma with rhabdoid features: Pathologic findings in dogs.

Vet Pathol 2022 Jun 8:3009858221100436. Epub 2022 Jun 8.

University of Minnesota, St. Paul, MN.

Rhabdoid meningioma is a rare type of meningeal neoplasm in humans. This study reports the clinical, pathological, and ultrastructural features of 4 cases of canine meningioma with rhabdoid features. The cases were female and 8 to 12 years of age. Read More

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Pituitary Stalk Thickening: Causes and Consequences. The Children's Memorial Health Institute Experience and Literature Review.

Front Endocrinol (Lausanne) 2022 20;13:868558. Epub 2022 May 20.

Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland.

Background: Pituitary stalk thickening (PST) is a rare abnormality in the pediatric population. Its etiology is heterogeneous. The aim of the study was to identify important clinical, radiological and endocrinological manifestations of patients with PST and follow the course of the disease. Read More

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Trastuzumab deruxtecan, antibody-drug conjugate targeting HER2, is effective in pediatric solid tumors: A report by the Pediatric Preclinical Testing Consortium.

Mol Cancer Ther 2022 Jun 2. Epub 2022 Jun 2.

The University of Texas MD Anderson Cancer Center, Houston, TX, United States.

HER2 is expressed in many pediatric solid tumors and is a target for innovative immune therapies including CAR-T cells and antibody-drug conjugates (ADCs). We evaluated preclinical efficacy of trastuzumab deruxtecan (T-DXd, DS-8201a), a humanized monoclonal HER2-targeting antibody conjugated to a topoisomerase 1 inhibitor, DXd, in patient and cell line-derived xenograft (PDX/CDX) models. HER2 mRNA expression was determined using RNA seq and protein expression via immunohistochemistry across multiple pediatric tumor PDX models. Read More

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Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: a report of two cases with novel genetic findings.

Genes Chromosomes Cancer 2022 Jun 2. Epub 2022 Jun 2.

Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, 251 East Huron St, Chicago, Illinois, United States.

Inflammatory leiomyosarcoma (ILMS) is a malignant neoplasm showing smooth muscle differentiation, a prominent inflammatory infiltrate, and near-haploidization. These tumors have significant pathologic and genetic overlap with the recently described "inflammatory rhabdomyoblastic tumor (IRT)", suggesting that ILMS and IRT may belong to one entity. Herein, we describe two cases of ILMS/IRT with attention to new cytogenetic and sequencing findings. Read More

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Phase II study of alisertib as a single agent for treating recurrent or progressive atypical teratoid/rhabdoid tumor.

Neuro Oncol 2022 Jun 2. Epub 2022 Jun 2.

Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Background: Recurrent atypical teratoid/rhabdoid tumor (AT/RT) is, most often, a fatal pediatric malignancy with limited curative options.

Methods: We conducted a phase II study of Aurora kinase A inhibitor alisertib in patients aged <22 years with recurrent AT/RT. Patients received alisertib once daily (80 mg/m 2 as enteric-coated tablets or 60 mg/m 2 as liquid formulation) on Days 1-7 of a 21-day cycle until progressive disease (PD) occurred. Read More

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The SWI/SNF ATPase BRG1 facilitates multiple pro-tumorigenic gene expression programs in SMARCB1-deficient cancer cells.

Oncogenesis 2022 Jun 1;11(1):30. Epub 2022 Jun 1.

Department of Biology, Middle Tennessee State University, Murfreesboro, TN, 32132, USA.

Malignant rhabdoid tumor (MRT) is driven by the loss of the SNF5 subunit of the SWI/SNF chromatin remodeling complex and then thought to be maintained by residual SWI/SNF (rSWI/SNF) complexes that remain present in the absence of SNF5. rSWI/SNF subunits colocalize extensively on chromatin with the transcription factor MYC, an oncogene identified as a novel driver of MRT. Currently, the role of rSWI/SNF in modulating MYC activity has neither been delineated nor has a direct link between rSWI/SNF and other oncogenes been uncovered. Read More

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Circulating rhabdoid tumor cells in the peripheral blood of a neonate.

Am J Hematol 2022 May 31. Epub 2022 May 31.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

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Cyclic Metronomic Chemotherapy for Pediatric Tumors: Six Case Reports and a Review of the Literature.

J Clin Med 2022 May 18;11(10). Epub 2022 May 18.

Border Biomedical Research Center, University of Texas at El Paso (UTEP), El Paso, TX 79968, USA.

We report a retrospective case series of six Hispanic children with tumors treated with metronomic chemotherapy. The six cases comprised one rhabdoid tumor of the kidney, one ependymoma, two medulloblastomas, one neuroblastoma, and a type II neurocytoma of the spine. Treatment included oral cyclophosphamide daily for 21 days alternating with oral etoposide daily for 21 days in a backbone of daily valproic acid and celecoxib. Read More

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NUT carcinoma, an under-recognized malignancy: a clinicopathologic and molecular series of 6 cases showing a subset of patients with better prognosis and a rare ZNF532::NUTM1 fusion.

Hum Pathol 2022 May 24;126:87-99. Epub 2022 May 24.

Department of Pathology, A.C.Camargo Cancer Center, Sao Paulo, 01509-010, Brazil. Electronic address:

NUT carcinoma (NC) is a rare malignancy with aggressive clinical behavior, defined by rearrangements involving the NUTM1 gene locus. This entity is often under-recognized and its diagnosis may be challenging. In this study, we describe a subset of patients that, despite the molecularly proven diagnosis of NC, show improved outcomes. Read More

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Commentary on: SMARCB1 as a novel diagnostic and prognostic biomarker for osteosarcoma.

Biosci Rep 2022 Jun;42(6)

AP Division/Pathology Laboratories, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Rd, Ottawa, Ontario K1H 8L1, Canada.

In the last couple of decades, biomarkers have been on the rise for diagnostic and predictive value. There has been a rush to identify new markers using new technologies and drug repurposing approaches. SMARCB1 acronym arises from the SWI/SNF (SWItch/Sucrose Non-Fermentable)-related Matrix-associated Actin-dependent Regulator of Chromatin subfamily B member 1 (SMARCB1). Read More

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Analysis on diagnosis and treatments of 16 cases of extracranial malignant rhabdoid tumor in children.

Transl Cancer Res 2022 Apr;11(4):629-638

Department of Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Background: To explore the clinical features, treatment and early prognosis of malignant rhabdoid tumor (MRT) of kidney and extrarenal extracranial soft tissue in children.

Methods: From January 2011 to July 2021, a total of 16 patients, who were diagnosed with MRTs of the kidney and extrarenal soft tissue were retrospectively analyzed and were divided into MRT of the kidney (MRTK) and extrarenal extracranial MRT (EERT).

Results: Sixteen patients were followed up for at least 15 months. Read More

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Molecular pathological insights reveal a high number of unfavorable risk patients among children treated for medulloblastoma and CNS-PNET in Oslo 2005-2017.

Pediatr Blood Cancer 2022 May 15:e29736. Epub 2022 May 15.

Department of Oncology, Oslo University Hospital, Oslo, Norway.

Background: An unexplained regional difference in survival was observed in previous publications on outcome for children treated for medulloblastoma and supratentorial primitive neuroectodermal tumor (CNS-PNET) in Norway. We aimed now to reevaluate and perform a retrospective molecular-based risk stratification of all embryonal brain tumors (excluding atypical teratoid rhabdoid tumors [ATRT]) in pediatric patients, who underwent surgery and treatment at Oslo University Hospital between 2005 and 2017.

Procedure: Specimens from all patients <20 years of age with initial diagnosis of medulloblastoma or CNS-PNET were reviewed. Read More

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Clinical Significance of Molecular Alterations and Systemic Therapy for Meningiomas: Where Do We Stand?

Cancers (Basel) 2022 Apr 30;14(9). Epub 2022 Apr 30.

Division of Neuro-Oncology, Department Neuroscience, University and City of Health and Science Hospital, 10126 Turin, Italy.

Meningiomas are common intracranial tumors that can be treated successfully in most cases with surgical resection and/or adjuvant radiotherapy. However, approximately 20% of patients show an aggressive clinical course with tumor recurrence or progressive disease, resulting in significant morbidity and increased mortality. Despite several studies that have investigated different cytotoxic agents in aggressive meningiomas in the past several years, limited evidence of efficacy and clinical benefit has been reported thus far. Read More

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Embryonal tumors in the WHO CNS5 classification: A Review.

Indian J Pathol Microbiol 2022 May;65(Supplement):S73-S82

Department of Radiological, Oncological and Anatomo-pathological Sciences, University Sapienza of Rome, Rome; IRCCS Neuromed, Pozzilli (IS), Italy.

Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). However, the application of DNA methylation/gene expression profiling in large series of neoplasms histologically defined as PNET, revealed tumors, which showed genetic events associated with glial tumors. Read More

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Identification of Prognostic Biomarkers in Patients With Malignant Rhabdoid Tumor of the Kidney Based on mTORC1 Signaling Pathway-Related Genes.

Front Mol Biosci 2022 26;9:843234. Epub 2022 Apr 26.

Department of Urology, Kunming Children's Hospital, Kunming, China.

Malignant rhabdoid tumor of the kidney (MRTK) is an infrequent malignant tumor in childhood, accounting for approximately 2% of all childhood kidney tumors. Although the development of current treatments, the overall survival (OS) rate of MRTK patients is only 25%. The aim of this research was to explore the prognostic value of genes associated with the mTORC1 signaling pathway in MRTK. Read More

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Giant Pediatric Supratentorial Tumor: Clinical Feature and Surgical Strategy.

Front Pediatr 2022 26;10:870951. Epub 2022 Apr 26.

Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.

Purpose: To analyze the clinical character of giant pediatric supratentorial tumor (GPST) and explore prognostic factors.

Materials And Methods: We analyzed the clinical data comprising of 35 cases of GPST from a single center between January 2015 and December 2020. The tumor volume was measured by 3D slicer software based on preoperative magnetic resonance imaging (MRI). Read More

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NSD1 mediates antagonism between SWI/SNF and polycomb complexes and is required for transcriptional activation upon EZH2 inhibition.

Mol Cell 2022 May 4. Epub 2022 May 4.

Division of Molecular Oncology, Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA; St. Jude Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA. Electronic address:

Disruption of antagonism between SWI/SNF chromatin remodelers and polycomb repressor complexes drives the formation of numerous cancer types. Recently, an inhibitor of the polycomb protein EZH2 was approved for the treatment of a sarcoma mutant in the SWI/SNF subunit SMARCB1, but resistance occurs. Here, we performed CRISPR screens in SMARCB1-mutant rhabdoid tumor cells to identify genetic contributors to SWI/SNF-polycomb antagonism and potential resistance mechanisms. Read More

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Extrarenal malignant rhabdoid tumor infiltrating the brachial plexus and spinal canal.

Neuroradiol J 2022 May 9:19714009221098368. Epub 2022 May 9.

Departments of Radiology and Imaging Sciences, 14434University of Utah, Salt Lake City, UT, USA.

Extrarenal malignant rhabdoid tumors are rare, aggressive lesions that primarily affect infants and children with characteristic SMARCB1/INI1 mutations. While rhabdoid tumors are most commonly found in the kidneys and central nervous system, they have been reported in virtually every soft tissue in the body. A 20-year-old previously healthy male presented with a 4-month history of left upper extremity weakness and pain and a 1-week history of lower extremity weakness. Read More

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The identification of miRNA and mRNA expression profiles associated with pediatric atypical teratoid/rhabdoid tumor.

BMC Cancer 2022 May 6;22(1):499. Epub 2022 May 6.

Department of Neurosurgery, The First Affiliated Hospital of Jinan University, Guangzhou, China.

Background: Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant pediatric tumor of the central nervous system (CNS) with high recurrence and low survival rates that is often misdiagnosed. MicroRNAs (miRNAs) are involved in the tumorigenesis of numerous pediatric cancers, but their roles in AT/RT remain unclear.

Methods: In this study, we used miRNA sequencing and gene expression microarrays from patient tissue to study both the miRNAome and transcriptome traits of AT/RT. Read More

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