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https://www.readbyqxmd.com/read/29758594/phox2b-is-a-reliable-immunomarker-in-distinguishing-peripheral-neuroblastic-tumors-from-cns-embryonal-tumors
#1
Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, Hart G Lidov
INTRODUCTION: The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function, and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumors, however no systematic evaluation of CNS embryonal tumors was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumor, and we hypothesized that PHOX2B immunostain would be helpful establishing the diagnosis...
May 14, 2018: Histopathology
https://www.readbyqxmd.com/read/29753057/histomorphologic-spectrum-of-germline-related-and-sporadic-bap-1-inactivated-melanocytic-tumors
#2
Erin M Garfield, Kara E Walton, Victor L Quan, Timothy VandenBoom, Bin Zhang, Betty Y Kong, Maria Cristina Isales, Elnaz Panah, Gene Kim, Pedram Gerami
BACKGROUND: BAP-1 inactivated melanocytic tumors (BIMTs) are often the earliest sign of the BAP-1 tumor predisposition syndrome. Identification of BIMTs and selection of patients for germline testing impacts the lives of patients with germline BAP-1 mutations. OBJECTIVE: We describe the spectrum of histomorphologic findings in BAP-1 inactivated melanocytic lesions to improve their recognition. We determined the frequency of sporadic versus germline cases in our cohort, assessing whether any features were statistically linked to germline status...
May 9, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29750397/fdg-pet-ct-in-the-evaluation-of-primary-and-secondary-pancreatic-malignancies
#3
Casey E Bohl, Sara M Federico, Giles W Robinson, Armita Bahrami, Barry L Shulkin
PURPOSE: Primary pancreatic carcinoma and pancreatic metastases are rare in the pediatric population. Pancreatoblastoma is the most common pancreatic malignant tumor in young children and solid-pseudopapillary tumor in teenagers. Pancreatic adenocarcinoma is extremely rare under the age of 40 and is usually associated with underlying genetic abnormalities. Secondary malignancies of the pancreas occur more frequently than primary pancreatic malignancies in children and are most commonly seen with non-Hodgkin lymphomas (NHL) and mesenchymal sarcomas...
May 11, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29748390/the-clinical-activity-of-pd-1-pd-l1-inhibitors-in-metastatic-non-clear-cell-renal-cell-carcinoma
#4
Rana R McKay, Dominick Bossé, Wanling Xie, Stephanie A M Wankowicz, Abdallah Flaifel, Raphael Brandao, Aly-Khan Lalani, Dylan J Martini, Xiao X Wei, David A Braun, Eliezer M Van Allen, Daniel Castellano, Guillermo de Velasco, J Connor Wells, Daniel Y C Heng, Andre P Fay, Fabio A Schutz, JoAnn Hsu, Sumanta Kumar Pal, Jae-Lyun Lee, James Hsieh, Lauren C Harshman, Sabina Signoretti, Robert J Motzer, Darren R Feldman, Toni K Choueiri
Programmed death 1 (PD-1) and PD ligand 1 (PD-L1) inhibitors have shown activity in metastatic clear cell renal cell carcinoma (ccRCC). Data on the activity of these agents in patients with non-clear cell RCC (nccRCC) or patients with sarcomatoid/rhabdoid differentiation is limited. In this multicenter analysis, we explored the efficacy of PD-1/PD-L1 inhibitors in patients with nccRCC or sarcomatoid/rhabdoid differentiation. Baseline and follow-up demographic, clinical, treatment, and radiographic data were collected...
May 10, 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29747250/-rare-primary-proximal-epithelioid-sarcoma-in-skull-base-clinical-analysis-of-four-cases
#5
Z J Duan, K Yao, Y M Qu, M Ren, Y L Zhang, X L Qi
Objective: To report the clinical and pathological features of primary proximal epithelioid sarcoma (PES) in skull base. Methods: The clinical and pathological features of four cases of PES in skull base from Sanbo Brain Institute of Capital Medical University and Kunming Sanbo Brain Institute were analysed retrospectively. Results: Three cases was female, and one male, the age ranged from 46 to 52 years.All cases occurred in skull base, and sellar region was the main site of involvement.Under the microscope, the tumor cells characterized by epithelioid cell changes, with or without rhabdoid tumor cells...
April 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29742888/atypical-teratoid-rhabdoid-tumour-from-tumours-to-therapies
#6
REVIEW
Elizabeth Anne Richardson, Ben Ho, Annie Huang
Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ≤1 year of age and represent approximately 1-2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival...
May 2018: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/29742885/malignant-brain-tumours-in-children-present-and-future-perspectives
#7
REVIEW
James T Rutka
In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma...
May 2018: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/29730815/pd-1-pd-l1-and-immune-related-gene-expression-pattern-in-pediatric-malignant-brain-tumors-clinical-correlation-with-survival-data-in-korean-population
#8
Kihwan Hwang, Eun Jung Koh, Eun Jin Choi, Tae Hee Kang, Jung Ho Han, Gheeyoung Choe, Sung-Hye Park, Jennifer Holmes Yearley, Lakshmanan Annamalai, Wendy Blumenschein, Manjiri Sathe, Terri McClanahan, Hun Jung, Kyu-Chang Wang, Seung-Ki Kim, Chae-Yong Kim
BACKGROUND: PD-L1 expression has been evaluated as a predictive biomarker for immunotherapy in numerous tumor types. However, very limited data are available in pediatric brain tumors. The aim of this study was to characterize PD-1 and PD-L1 expressions of four pediatric malignant brain tumors and gene expression profile. METHODS: This study included 89 pediatric patients receiving standard treatment at Seoul National University Children's Hospital and Seoul National University Bundang Hospital between 1990 and 2014: atypical teratoid/rhabdoid tumor (AT/RT) 20; ependymoma (EPN) 20; high grade glioma (HGG) 21; and medulloblastoma (MBL) 28...
May 5, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29726794/ectopic-rhabdoid-meningioma-of-the-orbit-in-a-child-case-report-and-review-of-the-literature
#9
Yağmur Seda Yeşiltaş, Kaan Gündüz, Aylin Okçu Heper, Esra Erden
In August 2016, an 11-year-old boy presented to the authors' institution with a right orbital tumor that was located superotemporally (superolaterally) and adherent to the sclera. The patient's past medical history revealed that he had undergone 2 previous craniotomies elsewhere in June 2008 and July 2010 for a superomedially located orbital lesion that had been histopathologically diagnosed as a neurothekeoma. After the second craniotomy, the patient underwent adjuvant intensity modulated radiotherapy (IMRT) to the right medial orbit...
May 4, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29700418/smarca4-deficient-undifferentiated-uterine-sarcoma-malignant-rhabdoid-tumor-of-the-uterus-a-clinicopathologic-entity-distinct-from-undifferentiated-carcinoma
#10
David L Kolin, Fei Dong, Michele Baltay, Neal Lindeman, Laura MacConaill, Marisa R Nucci, Christopher P Crum, Brooke E Howitt
Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive malignancy which usually occurs in young women and is characterized by mutations in SMARCA4, with few other alterations. We recently encountered uterine tumors with morphologic, immunohistochemical, and genetic similarities to small cell carcinoma of the ovary, hypercalcemic type. Herein we report the clinicopathologic and molecular features (using a targeted massively parallel sequencing [MPS] assay) of these tumors. The cases were diagnosed on cervical and endometrial biopsies (n = 2, 34, and 29 years) or hysterectomy and bilateral salpingo-oophorectomy (n = 3, 25, 33, and 58 years)...
April 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29696793/kbg-syndrome-patient-due-to-16q24-3-microdeletion-presenting-with-a-paratesticular-rhabdoid-tumor-coincidence-or-cancer-predisposition
#11
Astrid Behnert, Bernd Auber, Doris Steinemann, Michael C Frühwald, Carolin Huisinga, Kais Hussein, Christian Kratz, Tim Ripperger
KBG syndrome is a rare autosomal dominant disorder caused by constitutive haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11) being the result of either loss-of-function gene variants or 16q24.3 microdeletions. The syndrome is characterized by a variable clinical phenotype comprising a distinct facial gestalt and variable neurological involvement. ANKRD11 is frequently affected by loss of heterozygosity in cancer. It influences the ligand-dependent transcriptional activation of nuclear receptors and tumor suppressive function of tumor protein TP53...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29693073/extracranial-congenital-malignant-rhabdoid-tumor-in-infant-with-disseminated-disease-an-uncommon-entity-and-diagnostic-challenge
#12
Emily A Dunn, Bruno P Soares, Monica S Pearl, Richard Redett, Caitlin J Alexander, Katherine B Puttgen
No abstract text is available yet for this article.
May 2018: JAAD Case Reports
https://www.readbyqxmd.com/read/29684361/high-frequency-of-ovarian-cyst-development-in-vhl-2b-snf5-mice
#13
Yasumichi Kuwahara, Leslie M Kennedy, Anthony N Karnezis, E Lorena Mora-Blanco, Arlin B Rogers, Christopher D Fletcher, David G Huntsman, Charles W M Roberts, W Kimryn Rathmell, Bernard E Weissman
The new paradigm of mutations in chromatin modifying genes as driver events in the development of cancers has proved challenging to resolve the complex influences over disease phenotypes. In particular, impaired activities of members of the SWI/SNF chromatin remodeling complex have appeared in an increasing variety of tumors. Mutations in SNF5, a member of this ubiquitously expressed complex, arise in almost all cases of malignant rhabdoid tumor in the absence of additional genetic alterations. Therefore, we studied how activation of additional oncogenic pathways might shift the phenotype of disease driven by SNF5 loss...
April 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29684225/primary-intraocular-malignant-rhabdoid-tumor-without-extrascleral-compromise
#14
Eva Ayala Barroso, Alejandra Tapia Bahamondes, Juan Carlos Sánchez España, Llúcia Alós, Ramón Medel Jiménez
Primary intraocular malignant rhabdoid tumor is classified as a malignant extrarenal rhabdoid tumor. It is extremely rare, highly aggressive, and, so far, only one case (in a newborn) has been described in the medical literature. The authors report a second case of primary intraocular malignant rhabdoid tumor, this time without extrascleral involvement and in a teenager, and describe its histological, immunohistochemical, and radiological characteristics along with clinical correlations. [J Pediatr Ophthalmol...
April 23, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29682040/widespread-intra-abdominal-carcinomatosis-from-a-rhabdoid-meningioma-after-placement-of-a-ventriculoperitoneal-shunt-a-case-report-and-review-of-the-literature
#15
Jun Jie Ng, Kok Ann Teo, Asim Shabbir, Tseng Tsai Yeo
Intra-abdominal metastasis (IAM) of central nervous system (CNS) tumors through ventriculoperitoneal shunt (VPS) is rare but has been previously reported (e.g., germinomas and medulloblastomas). However, there has been no previous reports in literature involving meningiomas. A case of primary rhabdoid meningioma with widespread intra-abdominal carcinomatosis after placement of a VPS in a 36-year-old man is described. The patient underwent preoperative angioembolization of the tumor, craniotomy, and surgical excision, followed by postoperative gamma knife radiosurgery...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29670784/ultrasound-presentation-of-a-disseminated-fetal-and-neonatal-rhabdoid-tumor
#16
Yolaine Joueidi, Aline Rousselin, Céline Rozel, Philippe Loget, Dominique Ranchere Vince, Sylvie Odent, Franck Bourdeaut, Vincent Lavoue, Maela Le Lous
This is a case report of a disseminated fetal rhabdoid tumor discovered at 32 weeks of gestation in a 29-year-old woman on immunosuppressive therapy. The mother consulted for a decrease in fetal movement. Fetal ultrasound showed signs of a disseminated tumor affecting the left armpit, liver, spleen, and limbs. A caesarian section was performed because of signs of fetal distress. Immunohistochemical analysis of a fetal biopsy showed deletion of the SMARCB1 gene. Pathological analysis of the placenta showed a rhabdoid tumor invading both fetal and maternal compartments...
2018: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29661713/review-with-novel-markers-facilitates-precise-categorization-of-41-cases-of-diagnostically-challenging-undifferentiated-small-round-cell-tumors-a-clinicopathologic-immunophenotypic-and-molecular-analysis
#17
Isidro Machado, Akihiko Yoshida, María Gema Nieto Morales, Lucas Faria Abrahão-Machado, Samuel Navarro, Julia Cruz, Javier Lavernia, Antonina Parafioriti, Piero Picci, Antonio Llombart-Bosch
BACKGROUND: Despite extensive immunohistochemical (IHC) and molecular studies combined with morphologic findings, a group of round/ovoid cell tumors histologically similar to Ewing sarcomas (ES) but lacking EWSR1-rearrangements may remain unclassifiable. DESIGN: We retrospectively analyzed 41 Ewing-like tumors (formalin-fixed, paraffin-embedded) previously determined as negative or non-informative for EWSR1-rearrangements by FISH and/or RT-PCR. A new histopathology revision and additional IHC and molecular analyses were carried out in order to investigate whether additional IHC and/or molecular testing in combination with the morphological findings may help in reaching a definitive diagnosis...
November 29, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29661121/urothelial-carcinomas-of-the-urinary-bladder-with-plasmacytoid-or-rhabdoid-features-and-tendency-of-epithelial-mesenchymal-transition-in-3-dogs
#18
Susanne Je-Han Lin, Chi-Fei Kao, Fun-In Wang, Chian-Ren Jeng, Jih-Jong Lee, Lei-Ya Wang, Hui-Wen Chang, Yi-Jiun Chen, Chen-Hsuan Liu, Victor Fei Pang
Plasmacytoid and rhabdoid variants of urothelial carcinomas (UCs) of the urinary bladder have been described in humans with plasma cell-like or rhabdoid cellular appearance and aggressive clinical outcome. Canine UC of the bladder is generally classified as papillary/nonpapillary and infiltrating/noninfiltrating with limited information regarding other histological patterns. We report 3 cases of UC of the urinary bladder showing a unique discohesive cellular morphology with malignant behavior resembling the human plasmacytoid and rhabdoid variants of UC, which may raise some difficulties in diagnosis...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29629905/presurgical-pazopanib-for-renal-cell-carcinoma-with-inferior-vena-caval-thrombus-a-single-institution-study
#19
Tomoaki Terakawa, Ahmed A Hussein, Yukari Bando, Khurshid A Guru, Junya Furukawa, Katsumi Shigemura, Kenichi Harada, Nobuyuki Hinata, Yuzou Nakano, Masato Fujisawa
The aim of this study was to investigate the clinical benefit of presurgical therapy with pazopanib in renal cell carcinoma (RCC) patients with a tumor thrombus extending to a high level in the vena cava. A retrospective review was performed for seven consecutive patients with RCC and tumor thrombus involving the vena cava above the hepatic vein (level 3-4, Mayo Clinic classification) treated with pazopanib without initial cytoreductive nephrectomy at our institution. The effect of pazopanib was assessed in terms of the primary site response, thrombus diameter, and height (before and after treatment) on computed tomography or MRI...
April 6, 2018: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29625594/the-first-case-of-smarcb1-ini1-deficient-squamous-cell-carcinoma-of-the-pleura-a-case-report
#20
Kazushi Yoshida, Yutaka Fujiwara, Yasushi Goto, Takashi Kohno, Akihiko Yoshida, Koji Tsuta, Yuichiro Ohe
BACKGROUND: SMARCB1 (INI1) is a tumor-suppressor gene located at 22q11.2. Loss of SMARCB1 protein expression has been reported to be associated with atypical teratoid/rhabdoid tumors and malignant rhabdoid tumors of the kidney and extrarenal tissues. To date, however, SMARCB1-deficient carcinoma of the pleura has not been reported. We report the first case of SMARCB1- deficient squamous cell carcinoma of the pleura. CASE PRESENTATION: The case was a 33-year-old female...
April 7, 2018: BMC Cancer
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