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malignant rhabdoid tumor

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https://www.readbyqxmd.com/read/29324471/sellar-region-atypical-teratoid-rhabdoid-tumors-atrt-in-adults-display-dna-methylation-profiles-of-the-atrt-myc-subgroup
#1
Pascal D Johann, Susanne Bens, Florian Oyen, Rabea Wagener, Caterina Giannini, Arie Perry, Jack M Raisanen, Gerald F Reis, Sumihito Nobusawa, Kazunori Arita, Jörg Felsberg, Guido Reifenberger, Abbas Agaimy, Rolf Buslei, David Capper, Stefan M Pfister, Reinhard Schneppenheim, Reiner Siebert, Michael C Frühwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly encountered in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. A small group of ATRT stands out clinically, because these tumors are located in the sellar region of adults. To investigate if sellar region ATRT in adults represents a molecular distinct entity, we characterized molecular alterations in 7 sellar region ATRTs in adults as compared with 150 pediatric ATRTs and 47 pituitary adenomas using SMARCB1 sequencing, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization as well as DNA methylation profiling...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29316066/smarcb1-ini1-baf47-deficient-pleural-malignant-mesothelioma-with-rhabdoid-features
#2
Noriko Kimura, Masaru Hasegawa, Kenzo Hiroshima
Malignant mesothelioma (MM) with rhabdoid features is an MM variant. Fifteen cases have been reported previously, all of which were combined with other types of MM. Herein, we report an autopsy case of pleural MM with monomorphic rhabdoid features. The patient was a 62-year-old male without a history of asbestos exposure. An autopsy revealed a soft, granular tumor that replaced the entire left pleura and had invaded to the diaphragm and lower lobe of the lung. The tumor cells, which had eosinophilic plump cytoplasm and eccentric nuclei, were loosely cohesive...
January 5, 2018: Pathology International
https://www.readbyqxmd.com/read/29280680/smarcb1-deficient-tumors-of-childhood-a-practical-guide
#3
Bruce R Pawel
The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene transcription. SMARCB1 acts as a tumor suppressor gene, and loss of function of both alleles gives rise to SMARCB1-deficient tumors. The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT)...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29258531/malignant-rhabdoid-tumor-in-the-renal-allograft-of-an-adult-transplant-recipient-a-unique-case-of-a-rare-tumor
#4
Jing Xiong, Tiefen Su, Pengcheng Zhu, Qilin Ao, Qiurong Ruan, Guoping Wang
BACKGROUND: Renal transplant recipients have increased risk for developing malignant diseases because of immunosuppression or donor-to-recipient transmission. Malignant rhabdoid tumor (MRT) is a rare, highly aggressive and lethal tumor primarily affecting the kidney of infants and young children. MRT has not been reported in the renal allograft of an adult recipient after kidney transplantation. CASE PRESENTATION: In this report, a 47-year-old woman who received a kidney transplantation from an infant donor and developed a mass in the transplanted kidney is presented...
December 19, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29248378/atypical-teratoid-rhabdoid-tumor-of-the-sellar-region-in-adult-women-is-it-a-sex-related-disease
#5
REVIEW
Akihiro Nishikawa, Toshihiro Ogiwara, Alhusain Nagm, Kenji San, Maki Okada, Akihiro Chiba, Masahiro Agata, Tomoki Kaneko, Hisashi Tamada, Takeshi Uehara, Kazuhiro Hongo
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor in children and a rare entity. Although adult AT/RT is extremely rare, some cases of adult-onset AT/RT in the sellar region have been described. Here, we report an adult patient with AT/RT of the sellar region in whom it was difficult to make a definitive diagnosis and the clinical course was aggressive. This is the first report of autopsy findings that could confirm the clinical characteristics of this rare unresolved pathology, and will contribute to the improvement of prognosis...
December 13, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29228610/targeting-polo-like-kinase-1-in-smarcb1-deleted-atypical-teratoid-rhabdoid-tumor
#6
Irina Alimova, Angela M Pierce, Peter Harris, Andrew Donson, Diane K Birks, Eric Prince, Ilango Balakrishnan, Nicholas K Foreman, Marcel Kool, Lindsey Hoffman, Sujatha Venkataraman, Rajeev Vibhakar
Atypical teratoid rhabdoid tumor (ATRT) is an aggressive and malignant pediatric brain tumor. Polo-like kinase 1 (PLK1) is highly expressed in many cancers and essential for mitosis. Overexpression of PLK1 promotes chromosome instability and aneuploidy by overriding the G2-M DNA damage and spindle checkpoints. Recent studies suggest that targeting PLK1 by small molecule inhibitors is a promising approach to tumor therapy. We investigated the effect of PLK1 inhibition in ATRT. Gene expression analysis showed that PLK1 was overexpressed in ATRT patient samples and tumor cell lines...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29223518/synchronous-central-nervous-system-atypical-teratoid-rhabdoid-tumor-and-malignant-rhabdoid-tumor-of-the-kidney-case-report-of-a-long-term-survivor-and-review-of-the-literature
#7
Mohammad H Abu Arja, Priyal Patel, Summit H Shah, Jeffery J Auletta, Erin K Meyer, Suzanne E Conley, Jennifer H Aldrink, Jonathan A Pindrik, Mohamed S AbdelBaki
BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) with synchronous or metachronous extra-CNS disease is a rare childhood malignancy with a dismal prognosis. CASE DESCRIPTION: We report a seven-week-old female with metastatic AT/RT and synchronous malignant rhabdoid tumor of the kidney who received an intensive multimodal approach combining surgical resection, intrathecal chemotherapy, and high-dose chemotherapy with autologous peripheral blood stem cell transplant (PBSCT)...
December 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29218405/multimodal-treatments-combined-with-gamma-knife-surgery-for-primary-atypical-teratoid-rhabdoid-tumor-of-the-central-nervous-system-a-single-institute-experience-of-18-patients
#8
Yan-Ming Ren, Xia Wu, Chao You, Yue-Kang Zhang, Qiang Li, Yan Ju
OBJECTIVES: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system with poor prognosis. Nowadays, multimodal management, including surgery, chemotherapy (CMT), and radiation therapy (RT), is advocated. However, AT/RT treatment with gamma knife surgery (GKS) was rarely reported. The aim of this study was to assess the efficacy and safety of GKS for the treatment of AT/RT. PATIENTS AND METHODS: Medical records of AT/RT patients who underwent surgery from 2007 to 2014 at the West China Hospital were retrospectively reviewed and statistically analyzed...
December 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29204511/smarca4-germline-gene-mutation-in-a-patient-with-epithelial-ovarian-a-case-report
#9
Reshma Muppala, Talia Donenberg, Marilyn S Huang, Matthew P Schlumbrecht
Background: SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. To date, there are no data identifying an association with more common epithelial carcinomas of the ovary. Case: The patient is a 57-year-old female without any significant family history of cancer, diagnosed with high-grade serous carcinoma of the ovary...
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/29191969/olaratumab-exerts-anti-tumor-activity-in-preclinical-models-of-pediatric-bone-and-soft-tissue-tumors-through-inhibition-of-platelet-derived-growth-factor-receptor-alpha
#10
Caitlin D Lowery, Wayne Blosser, Michele Dowless, Shelby Knoche, Jennifer Stephens, Huiling Li, David Surguladze, Nick Loizos, Debra Luffer-Atlas, Gerard Joseph Oakley, Qianxu Guo, Seema Iyer, Brian P Rubin, Louis F Stancato
PURPOSE: Platelet-derived growth factor receptor alpha (PDGFRα) is implicated in several adult and pediatric malignancies, where activated signaling in tumor cells and/or cells within the microenvironment drive tumorigenesis and disease progression. Olaratumab (LY3012207/IMC-3G3) is a human monoclonal antibody that exclusively binds to PDGFRα and recently received accelerated FDA approval and conditional EMA approval for treatment of advanced adult sarcoma patients in combination with doxorubicin...
November 30, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29174934/primary-lesions-that-may-imitate-metastatic-tumors-histologically-a-selective-review
#11
REVIEW
Mark R Wick
Several primary pathologic entities in diverse anatomic locations have the potential to simulate metastatic neoplasms histologically. Their misinterpretation as such may result in needless and extensive clinical evaluations that are intended to detect a presumed malignancy at another site. More importantly, mistakes of this type can deprive patients of surgical excisions that could be curative. This presentation considers a review of selected primary lesions that can simulate metastases. They include hemangioblastoma, glioblastoma and meningioma with epithelial metaplasia, choroid plexus carcinomas, primary neuroendocrine carcinomas in unusual locations, special forms of sinonasal and salivary glandular adenocarcinoma, clear-cell thyroid carcinomas, unusual microscopic subtypes of pulmonary adenocarcinoma, epithelioid myomelanocytomas ("sugar tumors"), mesotheliomas, primary thymic carcinomas, endodermal choristomas of the interatrial myocardium, peripheral cholangiocarcinoma, adrenocortical carcinoma, adenocarcinomas of the urinary bladder, mucinous and "rhabdoid" tumors of the ovaries, rete testis adenocarcinomas, interdigitating dendritic-cell sarcoma of lymph nodes, selected sweat gland carcinomas, cutaneous Merkel cell carcinoma, primary dermal and subcutaneous melanoma, mucosal and visceral melanomas, epithelioid sarcoma, clear-cell sarcoma, and adamantinoma of long bones...
November 17, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29163174/sustained-complete-response-to-metronomic-chemotherapy-in-a-child-with-refractory-atypical-teratoid-rhabdoid-tumor-a-case-report
#12
Mahe Berland, Laetitia Padovani, Angélique Rome, Grégoire Pech-Gourg, Dominique Figarella-Branger, Nicolas André
Atypical teratoid rhabdoid tumor (ATRT) is a rare and highly aggressive embryonal tumor of the central nervous system with a dismal prognosis and no definitive guidelines for treatment, especially at relapse or in case of refractory disease. Metronomic chemotherapy (MC) has emerged as a new treatment option in solid malignancies, with lower toxicity and is frequently combined with drug repositioning. We report a case of ATRT in an 8-year-old boy who progressed during multimodal therapy including surgical resection, chemotherapy and radiotherapy...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29158936/smarca4-deficient-carcinoma-of-unknown-primary-presenting-with-fatal-paraneoplastic-hypercalcemia-in-a-heart-transplant-recipient-first-report-in-a-male-patient
#13
Abbas Agaimy, Deike Strobel, Thomas Strecker
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare SMARCA4-driven aggressive malignancy of young age characteristically associated with paraneoplastic hypercalcemia. Comparable neoplasms/presentations have not been reported in males. A 39-year-old male heart transplant recipient (HTX 40 months previously) presented with multiple liver nodules and hypercalcemic crisis. The serum parathyroid hormone-related protein (PTHrp) was significantly elevated (241 pg/ml; reference value < 57)...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/29156698/combined-brd4-and-cdk9-inhibition-as-a-new-therapeutic-approach-in-malignant-rhabdoid-tumors
#14
Natalia Moreno, Till Holsten, Julius Mertins, Annabelle Zhogbi, Pascal Johann, Marcel Kool, Michael Meisterernst, Kornelius Kerl
Rhabdoid tumors are caused by the deletion of SMARCB1, whose protein encodes the SMARCB1 subunit of the chromatin remodeling complex SWI/SNF that is involved in global chromatin organization and gene expression control. Simultaneously inhibiting the main players involved in the deregulated transcription machinery is a promising option for preventing exaggerated tumor cell proliferation and survival as it may bypass compensatory mechanisms. In support of this hypothesis, we report efficient impairment of cellular proliferation and strong induction of cell death elicited by inhibition of bromodomain protein BRD4 and transcription kinase CDK9 using small molecular compounds...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29141919/rare-tumors-in-kids-may-respond-to-tazemetostat
#15
(no author information available yet)
In a phase I trial of the EZH2 inhibitor tazemetostat, children with INI1-deficient tumors-including relapsed or refractory malignant rhabdoid tumors, atypical teratoid rhabdoid tumors, epithelioid sarcomas, and poorly differentiated chordomas-responded well to treatment, with some experiencing durable responses.
November 15, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29141209/high-throughput-drug-screening-identifies-pazopanib-and-clofilium-tosylate-as-promising-treatments-for-malignant-rhabdoid-tumors
#16
Céline Chauvin, Amaury Leruste, Arnault Tauziede-Espariat, Mamy Andrianteranagna, Didier Surdez, Aurianne Lescure, Zhi-Yan Han, Elodie Anthony, Wilfrid Richer, Sylvain Baulande, Mylène Bohec, Sakina Zaidi, Marie-Ming Aynaud, Laetitia Maillot, Julien Masliah-Planchon, Stefano Cairo, Sergio Roman-Roman, Olivier Delattre, Elaine Del Nery, Franck Bourdeaut
Rhabdoid tumors (RTs) are aggressive tumors of early childhood characterized by SMARCB1 inactivation. Their poor prognosis highlights an urgent need to develop new therapies. Here, we performed a high-throughput screening of approved drugs and identified broad inhibitors of tyrosine kinase receptors (RTKs), including pazopanib, and the potassium channel inhibitor clofilium tosylate (CfT), as SMARCB1-dependent candidates. Pazopanib targets were identified as PDGFRα/β and FGFR2, which were the most highly expressed RTKs in a set of primary tumors...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29131102/a-case-of-a-4-year-old-female-with-a-primary-spinal-malignancy-presenting-with-froin-s-syndrome
#17
Andrew T Hale, Gregory P Fricker, Travis W Crook
We report the case of a 4-year-old female with a primary extradural intramedullary atypical teratoid/rhabdoid tumor (AT/RT) leading to a middle cerebral artery (MCA) infarct and Froin's syndrome. She presented with a 6-pound weight loss over the previous week, as well as a decreased urinary output and an altered mental status. She underwent a brain MRI that revealed a left MCA infarct, mild ventriculomegaly, and bilateral internal carotid artery, M1, and A1 stenosis. An external ventricular drain (EVD) was placed due to increased intracranial pressure...
2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28966010/rhabdoid-tumor-of-the-liver-report-of-6-pediatric-cases-treated-at-a-single-institute
#18
Marianna Cornet, Guénolée De Lambert, Danièle Pariente, Julien Masliah Planchon, Catherine Guettier, Hélène Martelli, Florent Guérin, Sophie Branchereau
BACKGROUND: Rhabdoid tumors (RTs) of the liver are rare, aggressive and nonsecreting malignancies occurring mainly during the first year of life. Definition of RT relies on characteristic morphology and on the inactivation of the SMARCB1 tumor suppressor gene. The aim of this study was to analyze clinical data, treatments and outcomes in our patients. PATIENTS AND METHODS: 6 cases of patients treated in our institution for RT of the liver between January 2007 and January 2015 are reported...
September 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28945250/smarcb1-is-required-for-widespread-baf-complex-mediated-activation-of-enhancers-and-bivalent-promoters
#19
Robert T Nakayama, John L Pulice, Alfredo M Valencia, Matthew J McBride, Zachary M McKenzie, Mark A Gillespie, Wai Lim Ku, Mingxiang Teng, Kairong Cui, Robert T Williams, Seth H Cassel, He Qing, Christian J Widmer, George D Demetri, Rafael A Irizarry, Keji Zhao, Jeffrey A Ranish, Cigall Kadoch
Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by which this alteration contributes to tumorigenesis remains poorly understood. We find that BAF47 loss destabilizes BAF complexes on chromatin, absent significant changes in complex assembly or integrity...
November 2017: Nature Genetics
https://www.readbyqxmd.com/read/28877071/uncommon-localization-of-extrarenal-xp11-2-translocation-associated-renal-cell-carcinoma-rcc-case-report
#20
Jaudah Ahmed Al-Maghrabi, Mohamad Nidal Khabaz
The World Health Organization has recognized Xp11.2 translocation-associated renal cell carcinoma (RCC) as a distinct neoplasm that arises within the kidney. Although many reports of extrarenal carcinoma may be found in the literature, to the best of our knowledge, Xp11 translocation-associated RCC with intact kidneys has not been documented. This report describes a multilobulated right retroperitoneal soft tissue mass (7.9×5.3×12.6 cm) of a 37-year-old man complaining of abdominal pain in the right side...
September 4, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
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