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malignant rhabdoid tumor

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https://www.readbyqxmd.com/read/27879517/dux4-immunohistochemistry-is-a-highly-sensitive-and-specific-marker-for-cic-dux4-fusion-positive-round-cell-tumor
#1
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/27783942/dual-targeting-of-pdgfr%C3%AE-and-fgfr1-displays-synergistic-efficacy-in-malignant-rhabdoid-tumors
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/27732747/meningeal-smarcb1-deficient-tumors-an-emerging-group-of-meningeal-tumors
#9
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/27720562/pediatric-renal-and-genitourinary-tract-tumors-and-the-contributions-of-dr-louis-pepper-dehner-therewith
#10
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
#11
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
#12
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/27632188/disseminated-malignant-rhabdoid-tumor-of-the-head-and-neck
#13
Daniel Thomas Ginat, Nicole A Cipriani, Alixandra Purakal, Carrie Fitzpatrick, Kristen Paral, Thomas Krausz, Peter Pytel
Disseminated extrarenal malignant rhabdoid tumors of the head and neck are very rare, but aggressive tumors. Although the features on radiological imaging may be nonspecific, the imaging is useful for assessing the extent of tumor involvement. Key pathologic features are those of a cellular "blue cell tumor" with variable rhabdoid appearance. These cells express a combination of markers usually viewed as characteristic of diverse lines of differentiation, including EMA, cytokeratins, smooth muscle markers, and GFAP, and occasionally synaptophysin...
September 8, 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/27595391/-malignant-rhabdoid-tumor-of-the-lung
#14
M Zysman, C Clement-Duchene, C Bastien, P Vaillant, Y Martinet
INTRODUCTION: Rhabdoid tumours usually develop in brain and spinal cord or kidney; they are highly malignant neoplasms that typically arise in infancy and early childhood. However, rare cases of pulmonary localization have been described, particularly among young adults. CASE REPORT: A 26-year-old man, smoker, had a right apical lung mass associated with a Pancoast syndrome leading to haemoptysis. There was also a tumour of the left thigh and scalp. Histological samples taken at these three locations were in favour of an undifferentiated carcinoma...
August 29, 2016: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/27530312/redirecting-t-cells-to-glypican-3-with-4-1bb-zeta-chimeric-antigen-receptors-results-in-th1-polarization-and-potent-antitumor-activity
#15
Wenpeng Li, Linjie Guo, Purva Rathi, Ekaterina Marinova, Xiuhua Gao, Meng-Feng Wu, Hao Liu, Gianpietro Dotti, Stephen Gottschalk, Leonid S Metelitsa, Andras Heczey
T cells engineered to express CD19-specific chimeric antigen receptors (CARs) have shown breakthrough clinical successes in patients with B-cell lymphoid malignancies. However, similar therapeutic efficacy of CAR T cells in solid tumors is yet to be achieved. In this study we systematically evaluated a series of CAR constructs targeting glypican-3 (GPC3), which is selectively expressed on several solid tumors. We compared GPC3-specific CARs that encoded CD3ζ (Gz) alone or with costimulatory domains derived from CD28 (G28z), 4-1BB (GBBz), or CD28 and 4-1BB (G28BBz)...
August 16, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27472468/atypical-teratoid-rhabdoid-tumor-arising-in-a-malignant-glioma
#16
Barbara Bozzai, Martin Hasselblatt, Eszter Turányi, Michael C Frühwald, Reiner Siebert, Susanne Bens, Reinhard Schneppenheim, Marcel Kool, Gábor Stelczer, Tibor Hortobágyi, Peter Hauser
Atypical teratoid/rhabdoid tumor (AT/RT), a highly malignant brain tumor in young children, usually arises de novo and has only rarely been described as a secondary malignancy. Here, we present a case of a child with glioblastoma, who was treated postoperatively by a combination of temozolomide, irradiation, and bevacizumab. AT/RT was diagnosed as a secondary tumor, 2.5 years following primary diagnosis. The child died 13 months after the diagnosis of AT/RT. This case demonstrates that malignant gliomas may give rise to AT/RT...
July 29, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27467095/ewing-sarcoma-and-atypical-teratoid-rhabdoid-tumor-a-fish-and-immunohistochemical-comparison
#17
M Cristina Pacheco, Michelle Dolan, Anne Bendel
Ewing sarcoma (ES)/primitive neuroectodermal tumor (PNET) and atypical teratoid rhabdoid tumor (ATRT) are high-grade malignancies of childhood, each of which is associated with genetic abnormalities on chromosome 22. ES is typically characterized by rearrangement of the EWSR1 locus and ATRT by deletion of SMARCB1. We report a case with an unusual FISH signal pattern consistent with EWSR1 rearrangement that was shown to have loss of INI1 expression by immunohistochemistry due to deletion in the long arm of one chromosome 22...
July 28, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27466490/preclinical-evaluation-of-combined-targeted-approaches-in-malignant-rhabdoid-tumors
#18
Natalia Moreno, Kornelius Kerl
BACKGROUND/AIM: Rhabdoid tumors (RT) are aggressive pediatric tumors, which show poor prognosis despite use of multimodal intensive therapy. In these tumors, several different oncogenic pathways and epigenetic regulators (like CDK4/6-cyclinD-Rb-signaling, EZH2, histone deacetylases) are contemporaneously deregulated as a consequence of biallelic SMARCB1/SNF5/INI1 alterations. Since these tumors are highly resistant to current therapies, alternative treatment strategies are urgently required...
August 2016: Anticancer Research
https://www.readbyqxmd.com/read/27462229/small-cell-carcinoma-of-the-ovary-hypercalcemic-type-malignant-rhabdoid-tumor
#19
Peter Kascak, Michal Zamecnik, Branislav Bystricky
We present a rare case of malignant rhabdoid tumor (ovarian small cell carcinoma of hypercalcemic type) in a 24-year-old female with fulminant course. Clinically, hypercalcemia was not found at the time of primary diagnosis. However, it appeared later during the course of tumor progression. Histologically, the tumor showed classical features of small cell carcinoma of hypercalcemic type. Therapy included radical surgery with adjuvant chemotherapy. Despite this intensive therapy, the disease recurred and the patient died 10 months after the diagnosis...
May 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27444297/ultra-early-recurrence-in-giant-congenital-malignant-rhabdoid-tumor-of-spine
#20
Navneet Singla, Ankur Kapoor, Debajyoti Chatterjee, B D Radotra
BACKGROUND: Malignant rhabdoid tumor (MRT) is an aggressive tumor of infancy and childhood that rarely presents as a primary spinal or spinal cord tumor. There are only three reported cases of spinal MRT in infants. OBJECTIVE: We present a similar case in a 3-month male child who developed ultra-early recurrence, 4 weeks after complete excision. The diagnosis was confirmed by immunohistochemistry showing inactivation of the INI1 gene. RESULT: Despite surgical excision and adjuvant chemoradiotherapy, these tumors have a progressive course and recurrence is a common phenomenon...
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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