keyword
https://read.qxmd.com/read/38186431/a-rare-case-of-rhabdoid-pancreatic-carcinoma-prolonged-disease-free-survival-following-upfront-resection-and-adjuvant-chemotherapy
#1
Gabriel Land, Benjamin Van Haeringen, Caroline Cooper, Vladimir Andelkovic, Thomas O'Rourke
The rhabdoid subtype of undifferentiated pancreatic carcinoma is rarely reported. The clinical course of this disease is therefore poorly understood, although it is apparently an aggressive malignancy. We herein discuss the case of a 69-year-old man presenting with a rapidly enlarging mass of the pancreatic body and tail who was diagnosed with locally advanced SMARCB1-deficient undifferentiated pancreatic carcinoma with rhabdoid features, treated with radical resection and adjuvant chemotherapy, and has achieved 18-month disease-free survival ongoing at the time of article publication...
December 2023: Curēus
https://read.qxmd.com/read/37727617/atypical-teratoid-rhabdoid-tumour-with-cdk6-amplification-in-a-child-a-case-report-and-literature-review
#2
Zhibin Li, Yubo Wang, Yuanhao Liu, Yining Jiang, Xuefei Han, Liyan Zhao, Yunqian Li
Atypical teratoid/rhabdoid tumours (AT/RTs) are rare central nervous system neoplasms that frequently occur in infants and children and have a very poor prognosis. In recent years, molecular analysis of AT/RTs has shown that biallelic inactivation of SMARCB1 (INI1, SNF5, BAF47) or SMARCA4 (BRG1) frequently occurs. Here, we present a case of basal ganglia AT/RT with SMARCB1 gene deficiency and CDK6 gene amplification in a 5-year-old child. A 5-year-old boy was hospitalized due to a 1-week history of frontal and parietal headache...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/37219662/a-carboxy-terminal-smarcb1-point-mutation-induces-hydrocephalus-formation-and-affects-ap-1-and-neuronal-signalling-pathways-in-mice
#3
JOURNAL ARTICLE
Aliska K Brugmans, Carolin Walter, Natalia Moreno, Carolin Göbel, Dörthe Holdhof, Flavia W de Faria, Marc Hotfilder, Daniela Jeising, Michael C Frühwald, Boris V Skryabin, Timofey S Rozhdestvensky, Lydia Wachsmuth, Cornelius Faber, Martin Dugas, Julian Varghese, Ulrich Schüller, Thomas K Albert, Kornelius Kerl
The BAF (BRG1/BRM-associated factor) chromatin remodelling complex is essential for the regulation of DNA accessibility and gene expression during neuronal differentiation. Mutations of its core subunit SMARCB1 result in a broad spectrum of pathologies, including aggressive rhabdoid tumours or neurodevelopmental disorders. Other mouse models have addressed the influence of a homo- or heterozygous loss of Smarcb1, yet the impact of specific non-truncating mutations remains poorly understood. Here, we have established a new mouse model for the carboxy-terminal Smarcb1 c...
May 23, 2023: Cellular and Molecular Neurobiology
https://read.qxmd.com/read/35062870/malignant-rhabdoid-tumor-of-the-liver-in-a-middle-aged-woman-a-case-report-and-literature-review
#4
REVIEW
Haikun Ye, Zirong Liu, Yamin Zhang
BACKGROUND: Extrarenal malignant rhabdoid tumor (EMRT) is a rare and high-mortality malignant tumor, which is more common in infants and rarely seen in adults. We firstly report a case of liver malignant rhabdoid tumor (MRT) with a loss of SMARCB1 gene (alias INI1, SNF5, BAF47) expression in a middle-aged woman, and preliminarily summarize the clinical characteristics and discuss its potential treatment of liver MRT by reviewing 55 cases reported in the past. CASE PRESENTATION: We report a 40-year-old woman who was admitted to our hospital for right epigastric pain...
January 21, 2022: BMC Gastroenterology
https://read.qxmd.com/read/34193249/primary-pulmonary-epithelioid-sarcoma-a-case-report
#5
JOURNAL ARTICLE
Eiki Mizutani, Riichiro Morita, Keiko Abe, Makoto Kodama, Shogo Kasai, Yasumi Okochi, Noriko Motoi
BACKGROUND: Epithelioid sarcoma most frequently occurs in the dermal or subcutaneous area of the distal extremities. To date, there have been three cases of primary pulmonary epithelioid sarcoma reported. We report a case of epithelioid sarcoma that is considered a primary lung tumor. CASE PRESENTATION: A 65-year-old asymptomatic Asian male patient underwent chest radiography during a routine health examination, and an abnormal mass was detected. His past medical history was unremarkable...
July 1, 2021: Journal of Medical Case Reports
https://read.qxmd.com/read/34078620/a-role-for-smarcb1-in-synovial-sarcomagenesis-reveals-that-ss18-ssx-induces-canonical-baf-destruction
#6
JOURNAL ARTICLE
Jinxiu Li, Timothy S Mulvihill, Li Li, Jared J Barrott, Mary L Nelson, Lena Wagner, Ian C Lock, Amir Pozner, Sydney Lynn Lambert, Benjamin B Ozenberger, Michael B Ward, Allie H Grossmann, Ting Liu, Ana Banito, Bradley R Cairns, Kevin B Jones
Reduced protein levels of SMARCB1 (also known as BAF47, INI1, SNF5) have long been observed in synovial sarcoma. Here, we show that combined Smarcb1 genetic loss with SS18-SSX expression in mice synergized to produce aggressive tumors with histomorphology, transcriptomes, and genome-wide BAF-family complex distributions distinct from SS18-SSX alone, indicating a defining role for SMARCB1 in synovial sarcoma. Smarcb1 silencing alone in mesenchyme modeled epithelioid sarcomagenesis. In mouse and human synovial sarcoma cells, SMARCB1 was identified within PBAF and canonical BAF (CBAF) complexes, coincorporated with SS18-SSX in the latter...
October 2021: Cancer Discovery
https://read.qxmd.com/read/34003336/inhibition-of-nuclear-export-restores-nuclear-localization-and-residual-tumor-suppressor-function-of-truncated-smarcb1-ini1-protein-in-a-molecular-subset-of-atypical-teratoid-rhabdoid-tumors
#7
JOURNAL ARTICLE
Rajiv Pathak, Francesca Zin, Christian Thomas, Susanne Bens, Tenzin Gayden, Jason Karamchandani, Roy W Dudley, Karolina Nemes, Pascal D Johann, Florian Oyen, Uwe Kordes, Nada Jabado, Reiner Siebert, Werner Paulus, Marcel Kool, Michael C Frühwald, Steffen Albrecht, Ganjam V Kalpana, Martin Hasselblatt
Loss of nuclear SMARCB1 (INI1/hSNF5/BAF47) protein expression due to biallelic mutations of the SMARCB1 tumor suppressor gene is a hallmark of atypical teratoid/rhabdoid tumors (ATRT), but the presence of cytoplasmic SMARCB1 protein in these tumors has not yet been described. In a series of 102 primary ATRT, distinct cytoplasmic SMARCB1 staining on immunohistochemistry was encountered in 19 cases (19%) and was highly over-represented in cases showing pathogenic sequence variants leading to truncation or mutation of the C-terminal part of SMARCB1 (15/19 vs...
August 2021: Acta Neuropathologica
https://read.qxmd.com/read/33723763/proceedings-of-the-north-american-society-of-head-and-neck-pathology-baltimore-md-march-17-2021-the-mistakes-i-made-when-i-stepped-out-of-my-neck-of-the-woods
#8
JOURNAL ARTICLE
Mohammad S Khan, Ajay Malhotra, Manju L Prasad
Rapidly growing, symptomatic, non-hematological, malignant neck masses are unusual in young adults. We report a case of a 34-year-old African American male with sickle cell trait who presented with a large left supraclavicular/cervical mass comprising of poorly differentiated malignant epithelial cells consistent with metastatic carcinoma of unknown origin. Upon immunohistochemistry, the tumor showed loss of INI1 (BAF47) and retained PAX-8 expression. After extensive clinical and radiological work-up the primary tumor was found to be a 2...
March 2021: Head and Neck Pathology
https://read.qxmd.com/read/33625734/primary-cutaneous-smarcb1-deficient-carcinoma
#9
JOURNAL ARTICLE
Yiang Hui, Paolo Cotzia, Satshil Rana, Brie E Kezlarian, Oscar Lin, Travis J Hollmann, Snjezana Dogan
BACKGROUND: SMARCB1-deficient malignancies can arise in various sites. We describe a novel primary SMARCB1-deficient carcinoma of skin (SDCS) and characterize SMARCB1 mutations in non-melanoma skin cancers (NMSC). METHODS: Cases underwent immunophenotyping and targeted exome sequencing (MSK-IMPACT) assay interrogating somatic mutations in 468 cancer-related genes. The MSK-IMPACT database from 2014-2020 encompassing 55,000 cases was searched for NMSC with SMARCB1 mutations...
February 24, 2021: Journal of Cutaneous Pathology
https://read.qxmd.com/read/32651128/renal-medullary-carcinoma-involving-serous-cavity-fluids-a-cytomorphologic-study-of-12-cases
#10
JOURNAL ARTICLE
Daniel L Miller, Efrain A Ribeiro, Sinchita Roy-Chowdhuri, Peter B Illei, Momin T Siddiqui, Syed Z Ali
INTRODUCTION: Renal medullary carcinoma (RMC) is a highly lethal adenocarcinoma with a propensity for widespread metastatic disease in young patients. It is strongly associated with sickle cell trait and shows the loss of SMARCB1 (also known as INI1 or BAF47) protein expression. In the present study, we reviewed a series of 12 patients for whom the cytology specimens played a significant role in patient treatment. MATERIALS AND METHODS: We performed a retrospective case review of patients with a history of RMC from 3 large tertiary care pathology practices...
June 9, 2020: Journal of the American Society of Cytopathology
https://read.qxmd.com/read/32264965/targeting-epigenetics-in-sarcomas-through-ezh2-inhibition
#11
EDITORIAL
Antoine Italiano
Soft-tissue sarcomas represent a heterogeneous group of diseases with distinct genetic and clinical features accounting for up to 1% of cancer in adults and 15% of cancer in children. Epithelioid sarcoma is an extremely rare and aggressive tumor affecting young adults that is characterized by loss of INI1 expression. INI1 (SMARCB1, SNF5, BAF47) is a subunit of the SWI/SNF chromatin remodeling complex that opposes the enzymatic function of EZH2. When INI1 loses its regulatory function, EZH2 activity is de-regulated, allowing EZH2 to play a driving, oncogenic role...
April 7, 2020: Journal of Hematology & Oncology
https://read.qxmd.com/read/32188938/cryo-em-structure-of-swi-snf-complex-bound-to-a-nucleosome
#12
JOURNAL ARTICLE
Yan Han, Alexis A Reyes, Sara Malik, Yuan He
The chromatin-remodelling complex SWI/SNF is highly conserved and has critical roles in various cellular processes, including transcription and DNA-damage repair1,2 . It hydrolyses ATP to remodel chromatin structure by sliding and evicting histone octamers3-8 , creating DNA regions that become accessible to other essential factors. However, our mechanistic understanding of the remodelling activity is hindered by the lack of a high-resolution structure of complexes from this family. Here we report the cryo-electron microscopy structure of Saccharomyces cerevisiae SWI/SNF bound to a nucleosome, at near-atomic resolution...
March 2020: Nature
https://read.qxmd.com/read/32129445/advancing-biology-based-therapeutic-approaches-for-atypical-teratoid-rhabdoid-tumors
#13
JOURNAL ARTICLE
Lindsey M Hoffman, Elizabeth Anne Richardson, Ben Ho, Ashley Margol, Alyssa Reddy, Lucie Lafay-Cousin, Susan Chi, Irene Slavc, Alexander Judkins, Martin Hasselblatt, Franck Bourdeaut, Michael C Frühwald, Rajeev Vibhakar, Eric Bouffet, Annie Huang
Atypical teratoid rhabdoid tumor (ATRT) is a rare, highly malignant central nervous system cancer arising in infants and younger children, historically considered to be homogenous, monogenic and incurable. Recent use of intensified therapies has modestly improved survival for ATRT, however, a majority of patients will still succumb to their disease. While ATRTs almost universally exhibit loss of SMARCB1 (BAF47/INI1/SNF5), recent whole genome, transcriptome and epigenomic analyses of large cohorts reveal previously under-appreciated molecular heterogeneity...
March 4, 2020: Neuro-oncology
https://read.qxmd.com/read/31759698/recurrent-smarcb1-mutations-reveal-a-nucleosome-acidic-patch-interaction-site-that-potentiates-mswi-snf-complex-chromatin-remodeling
#14
JOURNAL ARTICLE
Alfredo M Valencia, Clayton K Collings, Hai T Dao, Roodolph St Pierre, Yung-Chih Cheng, Junwei Huang, Zhen-Yu Sun, Hyuk-Soo Seo, Nazar Mashtalir, Dawn E Comstock, Olubusayo Bolonduro, Nicholas E Vangos, Zoe C Yeoh, Mary Kate Dornon, Crystal Hermawan, Lee Barrett, Sirano Dhe-Paganon, Clifford J Woolf, Tom W Muir, Cigall Kadoch
Mammalian switch/sucrose non-fermentable (mSWI/SNF) complexes are multi-component machines that remodel chromatin architecture. Dissection of the subunit- and domain-specific contributions to complex activities is needed to advance mechanistic understanding. Here, we examine the molecular, structural, and genome-wide regulatory consequences of recurrent, single-residue mutations in the putative coiled-coil C-terminal domain (CTD) of the SMARCB1 (BAF47) subunit, which cause the intellectual disability disorder Coffin-Siris syndrome (CSS), and are recurrently found in cancers...
November 27, 2019: Cell
https://read.qxmd.com/read/31672915/structure-of-the-rsc-complex-bound-to-the-nucleosome
#15
JOURNAL ARTICLE
Youpi Ye, Hao Wu, Kangjing Chen, Cedric R Clapier, Naveen Verma, Wenhao Zhang, Haiteng Deng, Bradley R Cairns, Ning Gao, Zhucheng Chen
The RSC complex remodels chromatin structure and regulates gene transcription. We report the cryoEM structure of yeast RSC bound to the nucleosome. RSC is delineated into the ATPase motor, the actin-related-protein (ARP) module, and the substrate-recruitment module (SRM). RSC binds the nucleosome mainly through the motor, with the auxiliary subunit Sfh1 engaging the H2A-H2B acidic patch to enable nucleosome ejection. SRM is organized into three substrate-binding lobes poised to bind their respective nucleosomal epitopes...
October 31, 2019: Science
https://read.qxmd.com/read/31617267/a-case-of-renal-cell-carcinoma-unclassified-with-medullary-phenotype-without-detectable-gene-deletion
#16
Sadatoshi Tsuzuki, Tatsuki R Kataoka, Hiroaki Ito, Chiyuki Ueshima, Satsuki Asai, Hideaki Yokoo, Hironori Haga
Renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) is a rare variant of renal medullary carcinoma (RMC) characterized by loss of SMARCB1 (INI1 / SNF5 / BAF47) protein expression in patients without sickle cell trait. Here, we report a case of RCCU-MP in a Japanese patient who had experienced colon cancer 13 years ago, gastric cancer 11 years ago and lung cancer 9 years ago and had received hemodialysis for 15 years. This is the first report of RCCU-MP in Japan. The patient was not of African descent, and did not have SCT or any other hereditary blood abnormality typical of RMC...
October 15, 2019: Pathology International
https://read.qxmd.com/read/31543342/smarcb1-maintains-the-cellular-identity-and-the-chromatin-landscapes-of-mouse-embryonic-stem-cells
#17
JOURNAL ARTICLE
Megumi Sakakura, Sho Ohta, Masaki Yagi, Akito Tanaka, Jo Norihide, Knut Woltjen, Takuya Yamamoto, Yasuhiro Yamada
ES cell (ESC) identity is stably maintained through the coordinated regulation of transcription factors and chromatin structure. SMARCB1, also known as INI1, SNF5, BAF47, is one of the subunits of SWI/SNF (BAF) complexes that play a crucial role in regulating gene expression by controlling chromatin dynamics. Genetic ablation of Smarcb1 in mice leads to embryonic lethality at the peri-implantation stage, indicating that Smarcb1 is important for the early developmental stages. However, the role of SMARCB1 in the maintenance of the ESC identity remains unknown...
September 19, 2019: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/31160308/the-achilles-heel-of-malignant-rhabdoid-tumors
#18
COMMENT
Jing Huang, Ji Luo
Malignant rhabdoid tumors (MRT) are rare but deadly pediatric tumors characterized by mutations in the SMARCB1 / SNF5/INI1/BAF47 gene. Currently, there are no targeted therapies for MRTs. In a previous issue of Cancer Research , Howard and colleagues utilize the power of genome-wide RNAi and CRISPR screening to identify MDM2 and MDM4 as potential drug targets for MRTs. Most MRTs retain an intact p53 pathway and the authors show that these cells are particularly sensitive to MDM2 and MDM4 inhibition due to SMARCB1's role in regulating p53-depedent apoptotic genes...
June 1, 2019: Cancer Research
https://read.qxmd.com/read/30222246/the-structure-of-ini1-hsnf5-rpt1-and-its-interactions-with-the-c-myc-max-heterodimer-provide-insights-into-the-interplay-between-myc-and-the-swi-snf-chromatin-remodeling-complex
#19
JOURNAL ARTICLE
Susan Sammak, Mark D Allen, Najoua Hamdani, Mark Bycroft, Giovanna Zinzalla
c-MYC and the SWI/SNF chromatin remodeling complex act as master regulators of transcription, and play a key role in human cancer. Although they are known to interact, the molecular details of their interaction are lacking. We have determined the structure of the RPT1 region of the INI1/hSNF5/BAF47/SMARCB1 subunit of the SWI/SNF complex that acts as a c-MYC-binding domain, and have localized the interaction regions on both INI1 and on the c-MYC:MAX heterodimer. c-MYC interacts with a highly conserved groove on INI1, while INI1 binds to the c-MYC helix-loop-helix region...
September 17, 2018: FEBS Journal
https://read.qxmd.com/read/30178299/modulating-the-expression-strength-of-the-baculovirus-insect-cell-expression-system-a-toolbox-applied-to-the-human-tumor-suppressor-smarcb1-snf5
#20
JOURNAL ARTICLE
Monika M Golas, Sakthidasan Jayaprakash, Le T M Le, Zongpei Zhao, Violeta Heras Huertas, Ida S Jensen, Juan Yuan, Bjoern Sander
The human tumor suppressor SMARCB1/INI1/SNF5/BAF47 (SNF5) is a core subunit of the multi-subunit ATP-dependent chromatin remodeling complex SWI/SNF, also known as Brahma/Brahma-related gene 1 (BRM/BRG1)-associated factor (BAF). Experimental studies of SWI/SNF are currently considerably limited by the low cellular abundance of this complex; thus, recombinant protein production represents a key to obtain the SWI/SNF proteins for molecular and structural studies. While the expression of mammalian proteins in bacteria is often difficult, the baculovirus/insect cell expression system can overcome limitations of prokaryotic expression systems and facilitate the co-expression of multiple proteins...
November 2018: Molecular Biotechnology
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