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malignant rhabdoid tumor

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https://www.readbyqxmd.com/read/28180935/clinicopathological-features-and-microsurgical-outcomes-for-giant-pediatric-intracranial-tumor-in-60-consecutive-cases
#1
Ailing Guo, Vigneyshwar Suresh, Xianzhi Liu, Fuyou Guo
PURPOSE: Giant pediatric intracranial tumor (GPIT) remains to be a challenging disease with high morbidity and mortality. METHODS: The clinical data of 60 patients under 18 years of age operated on with GPIT (≥5 cm in diameter) were retrospectively analyzed. RESULTS: Gross total resection was achieved in 46 cases (77%) and subtotal resection was obtained in 14 cases (23%). Ninety percent (47/52) of the cases with obstructive hydrocephalus were resolved remarkably and only 10% (5/52) of the patients needed a ventriculoperitoneal shunt after tumor resection...
February 8, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28179970/atypical-teratoid-rhabdoid-tumor-of-the-sellar-region-in-an-adult-with-long-survival-case-report-and-review-of-the-literature
#2
Mussa Hussain Almalki, Ashjan Alrogi, Abdulkarim Al-Rabie, Sadeq Al-Dandan, Abdullah Altwairgi, Yasser Orz
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm usually diagnosed in young children, although it can occur in adults. Prognosis for AT/RT is poor, with a median survival of 10 - 11 months. We report a rare case of adult sellar and suprasellar AT/RT in a 36-year-old female patient. She was treated with multi-modalities including surgery, chemotherapy and radiation. She markedly improved following treatment with no recurrence in 3 years follow-up. To our knowledge, this is the 11th case of an adult-onset AT/RT in the sellar or suprasellar region with favorable long-term outcome...
March 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28152587/malignant-solitary-fibrous-tumor-with-heterologous-rhabdomyosarcomatous-differentiation-a-case-report
#3
Jeong-Hwa Kwon, Joon Seon Song, Hye Won Jung, Jong-Seok Lee, Kyung-Ja Cho
Malignant solitary fibrous tumor (MSFT) is a well-described entity, from which heterologous differentiation is extremely rare. We encountered a case of MSFT with rhabdomyosarcomatous differentiation in a 56-year-old man. This patient presented with a large mass in his posterior thigh. He had been treated with chemoradiation for sarcoma involving the cervical spine, right femoral head, and both lungs 6 months earlier. A wide excision was performed. The mass measured 10.6 cm and showed a fish-flesh cut surface with necrotic foci...
February 3, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28126270/evisceration-and-ocular-tumors-what-are-the-consequences
#4
S Lemaître, A Lecler, C Lévy-Gabriel, C Reyes, L Desjardins, D Gentien, M Zmuda, P V Jacomet, L Lumbroso-Le Rouic, R Dendale, A Vincent-Salomon, G Pierron, O Galatoire, N Cassoux
PURPOSE: Evisceration can be performed for blind, painful eyes. This surgery can promote the dissemination of tumor cells within the orbit if an ocular tumor has been missed preoperatively. METHODS: We reviewed the medical records of patients who were eviscerated for blind, painful eyes between 2009 and 2014 and who were referred after the surgery to the Institut Curie or the Rothschild Foundation in Paris. We included the patients with a histological diagnosis of ocular tumor or orbital recurrence...
January 23, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28111898/concurrent-myeloid-sarcoma-atypical-teratoid-rhabdoid-tumor-and-hypereosinophilia-in-an-infant-with-a-germline-smarcb1-mutation
#5
Jonathan L Metts, Sunita I Park, Bruno P Soares, Cindy Fong, Jaclyn A Biegel, Kelly C Goldsmith
We report a 1-year-old female child presenting with hypereosinophilia who was found to have concurrent myeloid sarcoma and a central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT). She was later found to have a germline mutation in SMARCB1. Concurrent hematologic malignancy and CNS AT/RT have not previously been described in the context of a SMARCB1 loss-of-function germline mutation.
January 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28109176/oncogenic-roles-of-smarcb1-ini1-and-its-deficient-tumors
#6
Kenichi Kohashi, Yoshinao Oda
SMARCB1/INI1 is one of the core subunit proteins of the ATP-dependent SWI/SNF chromatin remodeling complex, and is identified as a potent and bona fide tumor suppressor. Interactions have been demonstrated between SMARCB1/INI1 and key proteins in various pathways related to tumor proliferation and progression: the p16-RB pathway, WNT signaling pathway, sonic hedgehog signaling pathway and Polycomb pathway. Initially, no detectable SMARCB1/INI1 protein expression was found in malignant rhabdoid tumor cells, whereas all other kinds of tumor cells and non-tumorous tissue showed SMARCB1/INI1 protein expression...
January 21, 2017: Cancer Science
https://www.readbyqxmd.com/read/28108836/smad-dependent-signaling-plays-a-detrimental-role-in-a-fly-model-of-smarcb1-deficiency-and-the-biology-of-atypical-teratoid-rhabdoid-tumors
#7
Astrid Jeibmann, Jacqueline Schulz, Kristin Eikmeier, Pascal D Johann, Katharina Thiel, Isabel Tegeder, Oliver Ambrée, Michael C Frühwald, Stefan M Pfister, Marcel Kool, Werner Paulus, Martin Hasselblatt
Atypical teratoid/rhabdoid tumors (ATRT) are highly malignant brain tumors arising in young children. The majority of ATRT is characterized by inactivation of the chromatin remodeling complex member SMARCB1 (INI1/hSNF5). Little is known, however, on downstream pathways involved in the detrimental effects of SMARCB1 deficiency which might also represent targets for treatment. Using Drosophila melanogaster and the Gal4-UAS system, modifier screens were performed in order to identify the role of SMAD dependent signaling in the lethal phenotype associated with knockdown of snr1, the fly homolog of SMARCB1...
January 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28025236/otx2-defines-a-subgroup-of-atypical-teratoid-rhabdoid-tumors-with-close-relationship-to-choroid-plexus-tumors
#8
Anna Sophia Japp, Ludger Klein-Hitpass, Dorota Denkhaus, Torsten Pietsch
Atypical teratoid rhabdoid tumors (ATRT) are highly malignant brain tumors of early childhood that have been regarded as a homogenous entity characterized by inactivation of the SMARCB1/INI1 or SMARCA4/BRG1 genes as the only characteristic alteration. Recent studies suggest that similar to other embryonal tumors ATRT can also be divided into subgroups based on their mRNA or methylation profiles. Using microarray-based expression analysis of 12 patient ATRT specimens we demonstrated the existence of 2 subgroups of ATRT...
December 26, 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27966820/overexpression-of-tead4-in-atypical-teratoid-rhabdoid-tumor-new-insight-to-the-pathophysiology-of-an-aggressive-brain-tumor
#9
Mario Suzuki, Akihide Kondo, Ikuko Ogino, Hajime Arai, Tadanori Tomita, Simone Treiger Sredni
BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal brain tumor that occurs mainly in early childhood. Although most of the tumors are characterized by inactivating mutations of the tumor suppressor gene, SMARCB1, the biological basis of its tumorigenesis and aggressiveness is still unknown. PROCEDURE: We performed high-throughput copy number variation analysis of primary cell lines generated from primary and relapsed tumors from one of our patients to identify new genes involved in AT/RT biology...
December 14, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27923836/the-swi-snf-complex-protein-snr1-is-a-tumor-suppressor-in-drosophila-imaginal-tissues
#10
Gengqiang Xie, Hanqing Chen, Dongyu Jia, Zhiqiang Shu, William Hunt Palmer, Yi-Chun Huang, Xiankun Zeng, Steven X Hou, Renjie Jiao, Wu-Min Deng
Components of the SWI/SNF chromatin-remodeling complex are among the most frequently mutated genes in various human cancers, yet only SMARCB1/hSNF5, a core member of the SWI/SNF complex, is mutated in malignant rhabdoid tumors (MRT). How SMARCB1/hSNF5 functions differently from other members of the SWI/SNF complex remains unclear. Here, we use Drosophila imaginal epithelial tissues to demonstrate that Snr1, the conserved homolog of human SMARCB1/hSNF5, prevents tumorigenesis by maintaining normal endosomal trafficking-mediated signaling cascades...
December 6, 2016: Cancer Research
https://www.readbyqxmd.com/read/27879517/dux4-immunohistochemistry-is-a-highly-sensitive-and-specific-marker-for-cic-dux4-fusion-positive-round-cell-tumor
#11
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...
March 2017: 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
#12
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
#13
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
#14
Mateusz Bujko, Marcin M Machnicki, Emilia Grecka, Nataliia 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 that develops predominantly through progression from less malignant tumors. Owing to its low incidence, this tumor's biological background is unknown. The aim of this study was to profile somatic mutations in 4 meningioma samples from the same patient, derived previously from 4 subsequent tumor resections. CASE DESCRIPTION: A 58-year-old woman presented with recurrent meningioma progressing from atypical to rhabdoid subtype...
January 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27751600/pediatric-soft-tissue-tumor-pathology-a-happy-morpho-molecular-union
#15
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...
November 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
#16
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
#17
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...
November 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
#18
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...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27732747/meningeal-swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-b-member-1-smarcb1-deficient-tumours-an-emerging-group-of-meningeal-tumours
#19
B Dadone, D Fontaine, L Mondot, G Cristofari, A Jouvet, C Godfraind, P Varlet, D Ranchère-Vince, J-M Coindre, L Gastaud, C Baudoin, A-C Peyron, A Thyss, M Coutts, J-F Michiels, F Pedeutour, F Burel-Vandenbos
AIMS: Bi-allelic inactivation of SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily B member 1 (SMARCB1; also known as INI1) and loss of immunohistochemical expression of SMARCB1 define the group of SMARCB1-deficient tumours. Initially highlighted in malignant rhabdoid tumours, this inactivation has subsequently been observed in several intra and extracranial tumours. To date, primary meningeal SMARCB1-deficient tumours have not been described. We report two cases of meningeal SMARCB1-deficient tumours occurring in adults...
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
#20
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...
November 2016: Seminars in Diagnostic Pathology
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