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https://www.readbyqxmd.com/read/27889018/posterior-fossa-tumors
#1
REVIEW
Lara A Brandão, Tina Young Poussaint
Pediatric brain tumors are the leading cause of death from solid tumors in childhood. The most common posterior fossa tumors in children are medulloblastoma, atypical teratoid/rhabdoid tumor, cerebellar pilocytic astrocytoma, ependymoma, and brainstem glioma. Location, and imaging findings on computed tomography (CT) and conventional MR (cMR) imaging may provide important clues to the most likely diagnosis. Moreover, information obtained from advanced MR imaging techniques increase diagnostic confidence and help distinguish between different histologic tumor types...
February 2017: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/27879517/dux4-immunohistochemistry-is-a-highly-sensitive-and-specific-marker-for-cic-dux4-fusion-positive-round-cell-tumor
#2
Bradford Siegele, Jon Roberts, Jennifer O Black, Erin Rudzinski, Sara O Vargas, Csaba Galambos
The histologic differential diagnosis of pediatric and adult round cell tumors is vast and includes the recently recognized entity CIC-DUX4 fusion-positive round cell tumor. The diagnosis of CIC-DUX4 tumor can be suggested by light microscopic and immunohistochemical features, but currently, definitive diagnosis requires ancillary genetic testing such as conventional karyotyping, fluorescence in situ hybridization, or molecular methods. We sought to determine whether DUX4 expression would serve as a fusion-specific immunohistochemical marker distinguishing CIC-DUX4 tumor from potential histologic mimics...
November 22, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27866340/the-hereditary-nature-of-small-cell-carcinoma-of-the-ovary-hypercalcemic-type-two-new-familial-cases
#3
Leora Witkowski, Nancy Donini, Rebecca Byler-Dann, James A Knost, Steffen Albrecht, Andrew Berchuck, W Glenn McCluggage, Martin Hasselblatt, William D Foulkes
Small cell carcinoma of the ovary, hypercalcemic type, (SCCOHT) is the most common undifferentiated ovarian cancer in women aged under 40 years. SCCOHT is a monogenic disease, characterized by germline and somatic SMARCA4 mutations. Recent studies have stressed its morphological and clinical similarity to malignant rhabdoid tumours, which are usually caused by mutations in the related gene, SMARCB1. While familial tumours are rare, the incidence of germline mutations is relatively high, with up to 43% of SCCOHTs and 35% of rhabdoid tumours caused by germline mutations in SMARCA4 and SMARCB1, respectively...
November 19, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27861763/assessment-of-the-treatment-approach-and-survival-outcomes-in-a-modern-cohort-of-patients-with-atypical-teratoid-rhabdoid-tumors-using-the-national-cancer-database
#4
Benjamin W Fischer-Valuck, Ishita Chen, Amar J Srivastava, John M Floberg, Yuan James Rao, Allison A King, Eric T Shinohara, Stephanie M Perkins
BACKGROUND: Atypical teratoid rhabdoid tumors (ATRTs) are rare brain tumors that occur primarily in children under the age of 3 years. This report evaluates the treatment approach and survival outcomes in a large cohort of patients treated in the United States. METHODS: Using the National Cancer Database, the analysis included all ATRT patients aged 0 to 18 years who were diagnosed between 2004 and 2012 and had complete treatment data. RESULTS: Three hundred sixty-one ATRT patients were evaluated...
November 2, 2016: Cancer
https://www.readbyqxmd.com/read/27806786/-long-term-follow-up-report-of-multicenter-clinical-study-on-childhood-renal-tumor
#5
(no author information available yet)
Objective: To find the possibility of establishing multicenter cooperative group in China and to analyze the data and provide evidences for further revision of the protocol for improving the studies on renal tumor. Method: The multicenter renal tumor cooperative group was established under the Chinese Children Cancer Group. The diagnosis and staging criteria, the regulation for surgery, chemotherapy and radiation therapy were included in the protocol for renal tumor studies. Uniform data collection form was sent out to all the centers and collected data back by e-mail...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27783942/dual-targeting-of-pdgfr%C3%AE-and-fgfr1-displays-synergistic-efficacy-in-malignant-rhabdoid-tumors
#6
Jocelyn P Wong, Jason R Todd, Martina A Finetti, Frank McCarthy, Malgorzata Broncel, Simon Vyse, Maciej T Luczynski, Stephen Crosier, Karen A Ryall, Kate Holmes, Leo S Payne, Frances Daley, Patty Wai, Andrew Jenks, Barbara Tanos, Aik-Choon Tan, Rachael C Natrajan, Daniel Williamson, Paul H Huang
Subunits of the SWI/SNF chromatin remodeling complex are mutated in a significant proportion of human cancers. Malignant rhabdoid tumors (MRTs) are lethal pediatric cancers characterized by a deficiency in the SWI/SNF subunit SMARCB1. Here, we employ an integrated molecular profiling and chemical biology approach to demonstrate that the receptor tyrosine kinases (RTKs) PDGFRα and FGFR1 are coactivated in MRT cells and that dual blockade of these receptors has synergistic efficacy. Inhibitor combinations targeting both receptors and the dual inhibitor ponatinib suppress the AKT and ERK1/2 pathways leading to apoptosis...
October 25, 2016: Cell Reports
https://www.readbyqxmd.com/read/27769872/primary-epithelioid-sarcoma-of-the-kidney-and-adrenal-gland-report-of-2-cases-with-immunohistochemical-and-molecular-cytogenetic-studies
#7
Mir B Alikhan, Garrison Pease, William Watkin, Raymon Grogan, Thomas Krausz, Tatjana Antic
Epithelioid sarcoma (ES) is a malignant mesenchymal neoplasm with some morphologic or immunophenotypic evidence of epithelial differentiation. The "classical" subtype occurs in younger patients, often in distal extremities as compared to the "proximal" type. Tumors of the proximal type primarily arising in solid organs are rare with only few case reports in the literature. We report two cases of primary ES in the kidney of a 27-year-old female and the adrenal gland of a 73-year-old male. Clinical exam and imaging, including computer tomography and positron emission tomography did not reveal tumor elsewhere in both cases...
October 18, 2016: Human Pathology
https://www.readbyqxmd.com/read/27756662/mutational-analysis-of-recurrent-meningioma-progressing-from-atypical-to-rhabdoid-subtype
#8
Mateusz Bujko, Marcin M Machnicki, Emilia Grecka, Natalia Rusetska, Ewa Matyja, Paulina Kober, Tomasz Mandat, Małgorzata Rydzanicz, Rafał Płoski, Romuald Krajewski, Wieslaw Bonicki, Tomasz Stokłosa, Janusz A Siedlecki
BACKGROUND: Rhabdoid meningioma is rare aggressive meningioma histological subtype, which develops predominantly through progression from less malignant tumors. Due to a low incidence the biological background is unknown. The aim of this study was to profile somatic mutations in four meningioma samples from the same patient, derived previously from four subsequent tumor resections. CASE DESCRIPTION: 58-year-old woman suffering from recurrent meningioma progressing from atypical to rhabdoid subtype...
October 15, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27751600/pediatric-soft-tissue-tumor-pathology-a-happy-morpho-molecular-union
#9
Maureen O'Sullivan
Since its foundation by remarkably talented and insightful individuals, prominently including Pepper Dehner, pediatric soft tissue tumor pathology has developed at an immense rate. The morphologic classification of tumoral entities has extensively been corroborated, but has also evolved with refinement or realignment of these classifications, through accruing molecular data, with many derivative ancillary diagnostic assays now already well-established. Tumors of unclear histogenesis, classically morphologically undifferentiated, are prominent amongst pediatric sarcomas, however, the classes of undifferentiated round- or spindle-cell-tumors-not-otherwise-specified are being dismantled gradually with the identification of their molecular underpinnings...
September 5, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/27748279/diagnostic-utility-of-wilms-tumour-1-protein-wt-1-immunostaining-in-paediatric-renal-tumours
#10
Surbhi Goyal, Kiran Mishra, Urvee Sarkar, Satendra Sharma, Anita Kumari
BACKGROUND & OBJECTIVES: Renal tumours constitute about 7 per cent of all neoplasms in children. It is important to differentiate Wilms' tumour (commonest tumour) from non-Wilms' tumours. The aim of this study was to evaluate the immunoexpression and diagnostic role of Wilms' tumour-1 protein (WT1) in paediatric renal tumours. METHODS: A total of 53 cases of renal tumours in children (below 18 yr) who underwent total nephrectomy were included in this retrospective study...
May 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27745735/all-things-rhabdoid-and-smarc-an-enigmatic-exploration-with-dr-louis-p-dehner
#11
Christine E Fuller
Over the past several decades, our understanding of malignant rhabdoid tumors (MRT) and the central nervous system equivalent atypical teratoid/rhabdoid tumor (ATRT) has undergone considerable refinement, particularly in terms of genetic characterization. MRT (both renal and extra-renal) and ATRT share phenotypic similarities and a common genetic signature, that being inactivating alterations of the SWI/SNF complex component SMARCB1 (or rarely SMARCA4). Unfortunately, a wide array of tumors bears significantly overlapping phenotypic characteristics to MRT/ATRT, posing a formidable diagnostic challenge...
August 31, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/27734605/description-of-a-new-oncogenic-mechanism-for-atypical-teratoid-rhabdoid-tumors-in-patients-with-ring-chromosome-22
#12
Heather M Byers, Margaret P Adam, Amy LaCroix, Sarah E S Leary, Bonnie Cole, William B Dobyns, Heather C Mefford
Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant, embryonal tumors most often occurring in children under age 3 years. Most are due to a somatic change in tumor suppressor gene SMARCB1 followed by a second-hit, typically loss of heterozygosity, best detected on immunohistochemical staining. Despite the noteworthy genetic homogeneity of atypical teratoid rhabdoid tumors, relatively little is known about the oncogenic mechanisms that lead to biallelic inactivation of SMARCB1...
October 12, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27733182/an-xp11-2-translocation-renal-cell-carcinoma-with-smarcb1-ini1-inactivation-in-adult-end-stage-renal-disease-a-case-report
#13
Lu Yu, Jun Li, Sanpeng Xu, Mariajose Navia Miranda, Guoping Wang, Yaqi Duan
BACKGROUND: Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. CASE PRESENTATION: Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity...
October 12, 2016: Diagnostic Pathology
https://www.readbyqxmd.com/read/27732747/meningeal-smarcb1-deficient-tumors-an-emerging-group-of-meningeal-tumors
#14
Bérengère Dadone, Denys Fontaine, Lydiane Mondot, Gaël Cristofari, Anne Jouvet, Catherine Godfraind, Pascale Varlet, Dominique Ranchère-Vince, Jean-Michel Coindre, Lauris Gastaud, Christian Baudoin, Annie-Claude Peyron, Antoine Thyss, Michael Coutts, Jean-François Michiels, Florence Pedeutour, Fanny Burel-Vandenbos
AIMS: Bi-allelic inactivation of SMARCB1 (also known as INI1) and loss of immunohistochemical expression of SMARCB1 defines the group of SMARCB1-deficient tumors. Initially highlighted in malignant rhabdoid tumors, this inactivation has subsequently been observed in several intra and extracranial tumors. To date, primary meningeal SMARCB1-deficient tumors have not been described. We report two cases of meningeal SMARCB1-deficient tumors occurring in adults. METHODS: We performed immunohistochemical analyses, comparative genomic hybridization, fluorescence in situ hybridization and targeted next generation sequencing...
October 12, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27721283/incidentally-detected-clear-cell-renal-cell-carcinoma-with-rhabdoid-differentiation
#15
Venkatesh Krishnamoorthy, Kiran Krishne Gowda, Raman Narayana Rao
Renal cell carcinoma with rhabdoid differentiation (RCC-R) has an aggressive biologic behavior and poor prognosis. A recent consensus statement of the International Society of Urological Pathology (ISUP) proposed a nucleolar grading system (ISUP grade) for RCC to replace Fuhrman system and recommended reporting the presence of rhabdoid differentiation and considering tumors with rhabdoid differentiation to be ISUP Grade 4. We report a case of incidentally detected clear cell RCC-R in a 52-year-old man. This is one of the earliest cases of RCC-R (pT1b) detected and first such case from Indian subcontinent...
October 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/27720562/pediatric-renal-and-genitourinary-tract-tumors-and-the-contributions-of-dr-louis-pepper-dehner-therewith
#16
Jason A Jarzembowski
Dr. Louis "Pepper" Dehner is an internationally renowned surgical pathologist, especially in the subspecialty of pediatric pathology. Although his clinical and academic expertise are broad, with over 400 published articles, some of his most intriguing contributions have been in the area of pediatric renal and genitourinary pathology. This review focuses on the entities in these following organ systems where he has focused his efforts: malignant rhabdoid tumor, renal medullary carcinoma, Ewing sarcoma/peripheral neuroectodermal tumor, and the DICER1-related lesions cystic nephroma, embryonal rhabdomyosarcoma of the uterine cervix, and Sertoli-Leydig cell tumor...
August 31, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/27695363/atypical-teratoid-rhabdoid-tumors-challenges-and-search-for-solutions
#17
Ahitagni Biswas, Lakhan Kashyap, Aanchal Kakkar, Chitra Sarkar, Pramod Kumar Julka
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal central nervous system tumor commonly affecting children <3 years of age. It roughly constitutes 1%-2% of all pediatric central nervous system tumors. Recent data show that it is the most common malignant central nervous system tumor in children <6 months of age. Management of this aggressive tumor is associated with a myriad of diagnostic and therapeutic challenges. On the basis of radiology and histopathology alone, distinction of AT/RT from medulloblastoma or primitive neuroectodermal tumor is difficult, and hence this tumor has been commonly misdiagnosed as primitive neuroectodermal tumor for decades...
2016: Cancer Management and Research
https://www.readbyqxmd.com/read/27672680/a-molecular-take-on-malignant-rhabdoid-tumors
#18
COMMENT
Ming Tang, Roel Gw Verhaak
The molecular basis for the clinical heterogeneity observed in patients with malignant rhabdoid tumors is unknown. Recently, two reports revealed molecular inter-tumor heterogeneity in teratoid/rhabdoid tumors (ATRTs) and extra-cranial MRTs (ecMRTs) using genomic, transcriptomic and epigenomic profiling. Distinct molecular subgroups were identified and new therapeutic targets were revealed.
May 2016: Trends in Cancer
https://www.readbyqxmd.com/read/27650817/initial-testing-stage-1-of-the-curaxin-cbl0137-by-the-pediatric-preclinical-testing-program
#19
Richard Lock, Hernan Carol, John M Maris, E Anders Kolb, Richard Gorlick, C Patrick Reynolds, Min H Kang, Stephen T Keir, Jianrong Wu, Andrei Purmal, Andrei Gudkov, Dias Kurmashev, Raushan T Kurmasheva, Peter J Houghton, Malcolm A Smith
BACKGROUND: CBL0137 is a novel drug that modulates FAcilitates Chromatin Transcription (FACT), resulting in simultaneous nuclear factor-κB suppression, heat shock factor 1 suppression and p53 activation. CBL0137 has demonstrated antitumor effects in animal models of several adult cancers and neuroblastoma. PROCEDURES: CBL0137 was tested against the Pediatric Preclinical Testing Program (PPTP) in vitro cell line panel at concentrations ranging from 1.0 nM to 10...
September 21, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27644951/ini1-smarcb1-deficient-sinonasal-carcinoma-a-clinicopathologic-report-of-2-cases
#20
Jason K Wasserman, Brendan C Dickson, Bayardo Perez-Ordonez, John R de Almeida, Jonathan C Irish, Ilan Weinreb
Poorly differentiated sinonasal malignancies are amongst the hardest differential diagnoses in pathology, owing to the large number of rare entities that arise there. Complicating the matter is that most pathologists, including those with experience in head and neck pathology, have little experience in any one of these rare entities. Most patients with sinonasal carcinoma present with locally advanced disease and in the past a combination of chemotherapy, radiotherapy, and surgery would usually be recommended without the specific disease subtype playing a large part of the decision making...
September 19, 2016: Head and Neck Pathology
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