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Aanchal Kakkar, Vijay Mariadas Antony, Raja Pramanik, Pirabu Sakthivel, Chirom Amit Singh, Deepali Jain
A significant proportion of sinonasal malignancies is comprised of poorly differentiated/undifferentiated carcinomas that defy accurate histological classification, and behave aggressively. Recent years have seen a refinement of this spectrum by inclusion of novel entities harboring specific genetic alterations, including SMARCB1 (INI1)-deficient sinonasal carcinoma (SDSC), characterized by inactivating alterations in SMARCB1 gene, as demonstrated by loss of INI1 immunoexpression. Cyclin D1 is a cell-cycle regulatory protein downstream of INI1...
August 15, 2018: Human Pathology
Dóra Mihály, Gergő Papp, Zsolt Mervai, Andrea Reszegi, Péter Tátrai, Gábor Szalóki, Johanna Sápi, Zoltán Sápi
MiR-206 is a remarkable miRNA because it functions as a suppressor miRNA in rhabdomyosarcoma while at the same time, as previously showed, it can act as an oncomiRNA in SMARCB1 immunonegative soft tissue sarcomas. The aim of this study was to investigate the effect of miR-206 on its several target genes in various human tumorous and normal cell lines. In the current work, we created miR-206-overexpressing cell lines (HT-1080, Caco2, iASC, and SS-iASC) using permanent transfection. mRNA expression of the target genes of miR-206 (SMARCB1, ACTL6A, CCND1, POLA1, NOTCH3, MET, and G6PD) and SMARCB1 protein expression were examined with quantitative real-time polymerase chain reaction, immunoblotting, immunocytochemistry, and flow cytometry...
August 15, 2018: Experimental Biology and Medicine
Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa-Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe, Tatiana Cajuso, Ulrika A Hänninen, Kimmo Palin, Heikki Ristolainen, Riku Katainen, Eevi Kaasinen, Tomas Tanskanen, Mervi Aavikko, Minna Taipale, Jussi Taipale, Laura Renkonen-Sinisalo, Anna Lepistö, Selja Koskensalo, Jan Böhm, Jukka-Pekka Mecklin, Halit Ongen, Emmanouil T Dermitzakis, Outi Kilpivaara, Pia Vahteristo, Mikko Turunen, Sampsa Hautaniemi, Sari Tuupanen, Auli Karhu, Niko Välimäki, Markku Varjosalo, Esa Pitkänen, Lauri A Aaltonen
Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CRCs and respective normals were utilized...
August 14, 2018: EMBO Molecular Medicine
Giovanny Soca-Chafre, Norma Hernández-Pedro, Alejandro Aviles-Salas, Carmen Alaez Versón, Karol Carrillo Sánchez, Andrés F Cardona, Federico Avila-Moreno, Pedro Barrios-Bernal, Diana Flores-Estrada, Oscar Arrieta
Background: Wood smoke exposure (WSE) has been associated with an increased risk of lung cancer development. WSE has been related with high frequency of EGFR mutations and low frequency of KRAS mutations. The aim of this study was to evaluate large scale genomic alterations in lung adenocarcinomas associated with WSE using targeted next generation sequencing. Methods: DNA multi-targeted sequencing was performed in 42 fresh-frozen samples of advanced lung adenocarcinomas...
July 17, 2018: Oncotarget
Neda Stjepanovic, Tracy L Stockley, Philippe L Bedard, Jeanna M McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B Leighl, Raymond Jang, Monika K Krzyzanowska, Amit M Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid, Lillian L Siu, Raymond H Kim
BACKGROUND: Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for the return of additional germline results, and describe various gMAV scenarios delivered through a clinical genetics service. METHODS: Tumor profiling was offered to 1960 advanced cancer patients, of which 1556 underwent tumor-normal sequencing with multigene hotspot panels containing 20 cancer predisposition genes...
August 9, 2018: BMC Medical Genomics
Kristina Khazeni, Hannah LaBove, Breelyn Wilky, Andrew E Rosenberg, Elizabeth Paulus, Harvey Chim, Joseph M Pearson, Danny Yakoub
INTRODUCTION: Myoepithelial carcinoma and proximal-type epithelioid sarcoma of the vulva are two rare malignancies with known aggressive behavior. In addition to a similar clinical course, these two disease entities also have significant histologic and pathologic overlap. Given the rarity of these malignancies, there is limited literature on the appropriate treatment regimen. Nevertheless, there is a consensus that early surgical resection is beneficial in both cases. PRESENTATION: We present a case of a patient who was initially diagnosed with myoepithelial carcinoma of the vulva with a differential later expanded to include possible epithelioid sarcoma...
2018: International Journal of Surgery Case Reports
Iikki Donner, Riku Katainen, Lauri J Sipilä, Mervi Aavikko, Eero Pukkala, Lauri A Aaltonen
OBJECTIVES: Although the primary cause of lung cancer is smoking, a considerable proportion of all lung cancers occur in never smokers. Gender influences the risk and characteristics of lung cancer and women are overrepresented among never smokers with the disease. Young age at onset and lack of established environmental risk factors suggest genetic predisposition. In this study, we used population-based sampling of young patients to discover candidate predisposition variants for lung adenocarcinoma in never-smoking women...
August 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
Hildegard Kehrer-Sawatzki, Lan Kluwe, Reinhard E Friedrich, Anna Summerer, Eleonora Schäfer, Ute Wahlländer, Cordula Matthies, Isabel Gugel, Said Farschtschi, Christian Hagel, David N Cooper, Victor-Felix Mautner
Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. Here, we studied 15 sporadic patients with multiple non-intradermal schwannomas, but lacking vestibular schwannomas and ophthalmological abnormalities, who fulfilled the clinical diagnostic criteria for schwannomatosis. None of them harboured germline NF2 or SMARCB1 mutations as determined by the analysis of blood samples but seven had germline LZTR1 variants predicted to be pathogenic...
July 13, 2018: Human Genetics
Moatasem El-Ayadi, Kristof Egervari, Doron Merkler, Thomas A McKee, Fabienne Gumy-Pause, Damian Stichel, David Capper, Torsten Pietsch, Marc Ansari, André O von Bueren
Isocitrate Dehydrogenase-1 ( IDH1) is a driver gene in several cancers including brain tumors such as low-grade and high-grade gliomas. Mutations of SMARCB1 were described in atypical teratoid rhabdoid tumors and to date have not been associated with the pathogenesis of medulloblastoma. We report concurrent IDH1 and SMARCB1 mutations in a medulloblastoma patient. We searched the catalog of somatic mutations in cancer (COSMIC) database and other mutation databases and -to our knowledge- this is the first reported case of medulloblastoma harboring both mutations together...
2018: Frontiers in Neurology
Julia Velz, Abbas Agaimy, Karl Frontzek, Marian Christoph Neidert, Oliver Bozinov, Ulrich Wagner, Christine Fritz, Roland Coras, Silvia Hofer, Beata Bode-Lesniewska, Elisabeth Rushing
Primary intracranial neoplasms with features of extraskeletal myxoid chondrosarcomas (EMC) are extremely rare and poorly characterized tumors with only ∼12 cases described, the majority lacking molecular confirmation. There is an urgent need for the integration of molecular studies for correct subclassification of these tumors in order to predict clinical behavior, guide therapeutic decision-making, and provide novel targets for therapy. Clinical and pathologic data of 3 intracranial EMC-like myxoid neoplasms were retrospectively reviewed...
August 1, 2018: Journal of Neuropathology and Experimental Neurology
D Gareth Evans, Naomi L Bowers, Simon Tobi, Claire Hartley, Andrew J Wallace, Andrew T King, Simon K W Lloyd, Scott A Rutherford, Charlotte Hammerbeck-Ward, Omar N Pathmanaban, Simon R Freeman, John Ealing, Mark Kellett, Roger Laitt, Owen Thomas, Dorothy Halliday, Rosalie Ferner, Amy Taylor, Chris Duff, Elaine F Harkness, Miriam J Smith
OBJECTIVES: Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2. METHODS: Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics...
June 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Illja J Diets, Trine Prescott, Neena L Champaigne, Grazia M S Mancini, Bård Krossnes, Radek Frič, Kristina Kocsis, Marjolijn C J Jongmans, Tjitske Kleefstra
PURPOSE: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three conditions. Heterozygous loss-of-function germline PV cause rhabdoid tumor predisposition syndrome and schwannomatosis. Missense PV and small in-frame deletions in exons 8 and 9 result in Coffin-Siris syndrome, which is characterized by intellectual disability (ID), coarse facial features, and fifth digit anomalies. METHODS: By a gene matching approach, individuals with a similar SMARCB1 PV were identified...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Leonardo Horbach, Marialva Sinigaglia, Camila Alves Da Silva, Danielly Brufatto Olguins, Lauro José Gregianin, Algemir Lunardi Brunetto, André Tesainer Brunetto, Rafael Roesler, Caroline Brunetto De Farias
Ewing Sarcoma (ES) is a highly aggressive bone and soft tissue childhood cancer. The development of resistance to chemotherapy is common and remains the main cause of treatment failure. We herein evaluated the expression of genes associated with chemotherapy resistance in ES cell lines. A set of genes (CCAR1, TUBA1A, POLDIP2, SMARCA4 and SMARCB1) was data-mined for resistance against doxorubicin and vincristine, which are the standard drugs used in the treatment of patients with ES. The expression of each gene in SK-ES-1 ES cells was reported before and after exposure to a drug resistance-inducing protocol...
June 2018: Molecular and Clinical Oncology
Shoko Takeuchi, Manami Doi, Naoki Ikari, Masakazu Yamamoto, Toru Furukawa
Mutations in genes of the breast cancer susceptibility gene (BRCA) pathway, namely, BRCA1, BRCA2, and PALB2, can provide useful information for the efficacy of platinum-based or poly ADP-ribose polymerase inhibitors chemotherapeutic regimens. Pancreatic ductal adenocarcinoma (PDAC) is an important target for such precision chemotherapies because of its dismal prognosis. We analyzed mutations in the entire coding regions of the BRCA pathway genes, expression of breast cancer 2 (BRCA2), and mutations in hotspots of 50 cancer-associated genes in 42 surgically resected PDACs, and evaluated their associations with clinicopathological features...
May 25, 2018: Scientific Reports
Felicia D Allard, Diana Bell, Edward B Stelow
BACKGROUND: SMARCB1 (INI-1)-deficient sinonasal carcinoma (IDSNC) is a newly described, poorly differentiated carcinoma. Herein, the authors describe the cytopathologic features of IDSNC in fine-needle aspiration (FNA) samples. METHODS: The pathology archives of 2 academic institutions were searched for cases of IDSNC with available cytologic materials. All available slides were reviewed and a detailed morphological analysis was performed. RESULTS: Six cases were identified from 6 patients...
May 24, 2018: Cancer Cytopathology
Mohammed Babgi, Alaa Samkari, Abeer Al-Mehdar, Shaker Abdullah
INTRODUCTION: Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is characterized by SMARCB1/INI deletion or mutation in the long arm of chromosome 22 11(22q11.2), also resulting in loss of nuclear expression of INI1 protein immunohistochemically. AT/RT tumors usually occur in children below 3 years. The tumor is usually seen in the cerebellum or the cerebrum, with an extremely rare incidence in the spinal cord. MATERIALS AND METHODS: We report a rare case of AT/RT in a 6-year-old boy who had a primary spinal cord lesion in the thoracolumbar junction...
2018: Pediatric Neurosurgery
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor-Felix Mautner
BACKGROUND: The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co-occurrence of rhabdoid tumor and schwannomas in the same patient has not so far been reported. METHODS: We investigated a family with members harboring a germline SMARCB1 deletion by means of whole-body MRI as well as high-resolution microstructural magnetic resonance neurography (MRN)...
May 20, 2018: Molecular Genetics & Genomic Medicine
C Linder, M J Smith, M Bulman, A Wallace, A J Freemont, D C Mangham, D G R Evans
Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1...
May 14, 2018: Familial Cancer
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
Till Holsten, Susanne Bens, Florian Oyen, Karolina Nemes, Martin Hasselblatt, Uwe Kordes, Reiner Siebert, Michael C Frühwald, Reinhard Schneppenheim, Ulrich Schüller
Germline variants that affect function are found in seven genes of the BAF chromatin-remodeling complex. They are linked to a broad range of diseases that, according to the gene affected, range from non-syndromic or syndromic neurodevelopmental disorders to low-grade tumors and malignancies. In the current meta-analysis, we evaluate genetic and clinical data from more than 400 families and 577 patients affected by BAF germline alterations. We focus on SMARCB1, including 43 unpublished patients from the EU-RHAB registry and our institution...
August 2018: European Journal of Human Genetics: EJHG
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