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JOURNAL ARTICLE
Chao-Yu Liu, Hsu-Hsin Chen
Transcriptome profiling at single-cell resolution allows us to identify and assess functional cell types and cellular states, including those within degenerating ocular tissues in retinitis pigmentosa. The technology is particularly valuable when studying tissues with high cellular heterogeneity, or when specific cell types are of interest. In this chapter, we introduce a detailed protocol of a medium-throughput single-nucleus RNA sequencing technique that utilizes frozen tissue as input sample. This protocol can be executed by any researcher with basic training in molecular biology techniques...
2023: Methods in Molecular Biology
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JOURNAL ARTICLE
Philipp Jurmeister, Stefanie Glöß, Renée Roller, Maximilian Leitheiser, Simone Schmid, Liliana H Mochmann, Emma Payá Capilla, Rebecca Fritz, Carsten Dittmayer, Corinna Friedrich, Anne Thieme, Philipp Keyl, Armin Jarosch, Simon Schallenberg, Hendrik Bläker, Inga Hoffmann, Claudia Vollbrecht, Annika Lehmann, Michael Hummel, Daniel Heim, Mohamed Haji, Patrick Harter, Benjamin Englert, Stephan Frank, Jürgen Hench, Werner Paulus, Martin Hasselblatt, Wolfgang Hartmann, Hildegard Dohmen, Ursula Keber, Paul Jank, Carsten Denkert, Christine Stadelmann, Felix Bremmer, Annika Richter, Annika Wefers, Julika Ribbat-Idel, Sven Perner, Christian Idel, Lorenzo Chiariotti, Rosa Della Monica, Alfredo Marinelli, Ulrich Schüller, Michael Bockmayr, Jacklyn Liu, Valerie J Lund, Martin Forster, Matt Lechner, Sara L Lorenzo-Guerra, Mario Hermsen, Pascal D Johann, Abbas Agaimy, Philipp Seegerer, Arend Koch, Frank Heppner, Stefan M Pfister, David T W Jones, Martin Sill, Andreas von Deimling, Matija Snuderl, Klaus-Robert Müller, Erna Forgó, Brooke E Howitt, Philipp Mertins, Frederick Klauschen, David Capper
The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum of various differential diagnoses as well as poorly defined, disputed entities such as sinonasal undifferentiated carcinomas (SNUCs). In this study, we apply a machine learning algorithm based on DNA methylation patterns to classify sinonasal tumors with clinical-grade reliability. We further show that sinonasal tumors with SNUC morphology are not as undifferentiated as their current terminology suggests but rather reassigned to four distinct molecular classes defined by epigenetic, mutational and proteomic profiles...
November 28, 2022: Nature Communications
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JOURNAL ARTICLE
Patrick J Hensley, Zhigang Duan, Kelly Bree, Akshay Sood, Hui Zhao, Niyati Lobo, Roberto Contieri, Matthew T Campbell, Charles C Guo, Neema Navai, Stephen B Williams, Colin P Dinney, Ashish M Kamat
INTRODUCTION: Muscle-invasive bladder cancer (BC) often occurs in patients with competing mortality risks, while also being associated with the highest rate of second primary nonurothelial cancers (SNUC) of all solid malignancies. We investigated the incidence, risk factors, and timing of SNUC as a competing mortality risk factor in patients with BC who were treated with curative intent radical cystectomy (RC). METHODS: We performed a retrospective cohort study assessing patients who underwent RC for cT2-4 N0M0 BC from January 1, 2005 to December 31, 2018 at a single, high volume tertiary care referral center...
February 2023: Urologic Oncology
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JOURNAL ARTICLE
Li Wang, Jie Wang, Tianci Tang, Li Yan, Xinmao Song
OBJECTIVE: The current study aimed to investigate the value of definitive-intent (chemo)radiotherapy in treating sinonasal undifferentiated carcinoma (SNUC) in a single institution. METHODS: The medical records of twenty-one patients with SNUC treated with definitive-intent (chemo)radiotherapy between 2011 and 2021 in one single institution were retrospectively reviewed. We analyzed the treatment efficiency and long-term survivals. RESULTS: A total of twenty-one patients were included in this cohort, twelve patients presented with T4 stage at diagnosis, and six in T1/T2, three in T3 stage...
November 1, 2022: British Journal of Radiology
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JOURNAL ARTICLE
Yusaku Miyata, Naoya Murakami, Yoshitaka Honma, Taisuke Mori, Seiichi Yoshimoto, Tairo Kashihara, Mihiro Takemori, Yuko Nakayama, Jun Itami, Etsuyo Ogo, Hiroshi Igaki
Sinonasal undifferentiated carcinoma (SNUC) is a highly aggressive and uncommon neoplasm that arises from the mucosa of the nasal cavity or paranasal sinuses. The multidisciplinary approach that includes surgery, radiation therapy (RT), and chemotherapy has been proven to improve survival rates. However, there is no established evidence for the efficacy of further (boost) irradiation following definitive RT in SNUC patients with residual primary tumor. We describe a successful case of a patient with SNUC who had an uncontrolled primary tumor following induction chemotherapy and radical concurrent chemoradiotherapy (CCRT) and underwent a high-dose-rate interstitial brachytherapy (HDR-ISBT) boost...
September 22, 2022: Journal of Radiation Research
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JOURNAL ARTICLE
Elias Antoniades, Angeliki Cheva, Jannis Constantinidis, Evangelia Kalloniati, Ioannis Patsalas
BACKGROUND Sinonasal undifferentiated carcinomas (SNUC) are highly malignant and rare lesions. Therapeutic efforts often provide frustrating results. Their course is characterized by indolent progression, until it culminates in extensive local infiltration of adjacent anatomical structures or cervical lymphadenopathy in approximately one-third of patients upon admission. It most frequently affects males, with a sex ratio of 3: 1. The age at manifestation tends to be about 40-50 years. CASE REPORT We report the case of a 41-year-old man with intracranial expansion of SNUC...
August 1, 2022: American Journal of Case Reports
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JOURNAL ARTICLE
Michael R Papazian, Alex J Gordon, Michael Chow, Aneek Patel, Donato Pacione, Seth Lieberman, Babak Givi
Sinonasal undifferentiated carcinoma (SNUC) is a rapidly growing malignancy with a propensity for extensive local invasion. Multimodal therapy, including surgery, radiotherapy, and chemotherapy, is the standard approach to treatment, but the optimal sequence and combination of these modalities are uncertain. Induction chemotherapy is being increasingly utilized based on recent reports that show better outcomes for patients who respond to chemotherapy and the ability to determine further course of treatment...
July 2022: Journal of Neurological Surgery Reports
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JOURNAL ARTICLE
Huiwen Yang, Liuqing Zhou, Gang Zhong, Xiangxiang Li, Yanjun Wang
Background: SWItch/Sucrose Non-Fermentable related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1)-deficient sinonasal carcinoma (SDSC) is a malignant tumor classified as sinonasal undifferentiated carcinoma (SNUC). Purpose: Owing to the high aggressiveness and poor prognosis reported in recent literature, patients diagnosed with SNUC should consider further immunohistochemical examination to screen for SDSC. Timely diagnosis is critical and will contribute to follow-up targeted therapy and improved patient prognosis...
May 21, 2022: Ear, Nose, & Throat Journal
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JOURNAL ARTICLE
Aanchal Kakkar, Amber Rathor, Subiyathul Farah Ashraf, Varsha Singh, Kapil Sikka, Deepali Jain
Sinonasal undifferentiated carcinoma (SNUC) is a rare, poorly defined sinonasal epithelial neoplasm from which several genetically defined entities are emerging.IDH1/2mutations were recently identified in a subset of SNUC. However, the ideal method for the detection of these mutations remains to be established. Cases diagnosed as SNUC between 2010 and 2020 were retrieved. Immunohistochemistry was performed using IDH1/2 mutant-specific antibody MsMab-1. Quantitative real-time polymerase chain reaction (qPCR) was performed on genomic DNA extracted from formalin-fixed paraffin-embedded tissue using 2 kits to detectIDH1/2mutations...
May 2, 2022: American Journal of Surgical Pathology
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JOURNAL ARTICLE
Abbas Agaimy
The pathology of poorly differentiated sinonasal malignancies has been the subject of extensive studies during the last decade, which resulted into significant developments in the definitions and histo-/pathogenetic classification of several entities included in the historical spectrum of "sinonasal undifferentiated carcinomas (SNUC)" and poorly differentiated unclassified carcinomas. In particular, genetic defects leading to inactivation of different protein subunits in the SWI/SNF chromatin remodeling complex have continuously emerged as the major (frequently the only) genetic player driving different types of sinonasal carcinomas...
March 21, 2022: Head and Neck Pathology
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JOURNAL ARTICLE
Hyun-Sik Yang, Daniel Kang, Vilas Menon, Hans-Ulrich Klein, Tian Ge, Hilary Finucane, Lori B Chibnik, Timothy J Hohman, Richard Mayeux, Philip L De Jager, Reisa A Sperling
BACKGROUND: Conventional polygenic risk score (PRS) summarizes genetic risk throughout the genome and lacks biological specificity. Here, leveraging human brain single nucleus RNA sequencing (sNuc-Seq) data, we introduce a new method to capture cell-type specific Alzheimer's disease (AD) PRS, and implicate different cell types in distinct disease processes in preclinical AD. METHOD: Cognitively unimpaired (CU) older adults of European descent who participated in the Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) study screening PET were included in this study...
December 2021: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#32
JOURNAL ARTICLE
Stefano Suzzi, Tommaso Croese, Adi Ravid, Abbe R Clark, Sedi Medina, Sara P Colaiuta, Katherine Vernon, Or Gold, Sergey Malitsky, Maxim Itkin, Liora Cahalon, Anna Greka, Naomi Habib, Michal Schwartz
BACKGROUND: Emerging studies in Alzheimer's disease (AD) have identified, among numerous risk factors, immune dysfunction and midlife obesity. Here, we hypothesized that these two elements might be linked. METHOD: AD-prone 5xFAD mice at 2 months of age were switched to a high-fat diet (HFD, 60% calories from fat) for 28 weeks to induce obesity. As controls, we used 5xFAD mice fed a control diet (CD, 20% calories from fat). WT littermates for both diet groups were included in the study...
December 2021: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
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REVIEW
Mario Turri-Zanoni, Giacomo Gravante, Paolo Castelnuovo
PURPOSE OF REVIEW: Sinonasal tumors are rare and heterogeneous diseases which pose challenges in diagnosis and treatment. Despite significant progress made in surgical, oncological, and radiotherapy fields, their prognosis still remains poor. Therefore, alternative strategies should be studied in order to refine diagnosis and improve patient care. RECENT FINDINGS: In recent years, in-depth molecular studies have identified new biological markers, such as genetic abnormalities and epigenetic variations, which have allowed to refine diagnosis and predict prognosis...
January 20, 2022: Current Oncology Reports
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REVIEW
Diana C Lopez, Andrew E Wadley, Nyall R London
PURPOSE OF REVIEW: Sinonasal malignancies are rare and understudied, often diagnosed at late stages, and may behave aggressively. This review explores investigative diagnostic, therapeutic, and scientific advances specific to sinonasal undifferentiated carcinoma (SNUC), intestinal-type adenocarcinoma (ITAC), and olfactory neuroblastoma (ONB). RECENT FINDINGS: A number of studies have recently contributed more robust knowledge of the genetic and molecular landscapes of SNUC, ITAC, and ONB...
February 1, 2022: Current Opinion in Otolaryngology & Head and Neck Surgery
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JOURNAL ARTICLE
Aanchal Kakkar, Subiyathul Farah Ashraf, Amber Rathor, Amit Kumar Adhya, Suresh Mani, Kapil Sikka, Deepali Jain
CONTEXT.—: Molecular analysis of poorly differentiated/undifferentiated sinonasal neoplasms has resulted in identification of a growing number of genetically defined tumors. SMARCA4-deficient sinonasal carcinoma is one such recently described entity that emerged from within sinonasal undifferentiated carcinoma (SNUC), neuroendocrine carcinoma (NEC), and teratocarcinosarcoma (TCS). OBJECTIVE.—: To identify SMARCA4-deficient sinonasal carcinomas from a large institutional cohort of poorly differentiated/undifferentiated carcinomas and evaluate their clinicopathologic features...
December 6, 2021: Archives of Pathology & Laboratory Medicine
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Maizatul Nadia Hassan, Wan Hazabbah Wan Hitam, Nurul Ain Masnon, Subash Govindasamy, Ahmad Razif Omar
Sinonasal undifferentiated carcinoma (SNUC) is an extremely aggressive malignancy. Extension to the orbit and adjacent structures is common, but isolated visual loss as a presenting symptom is rare. We report a rare case of SNUC with bilateral visual loss as the initial manifestation. A 34-year-old gentleman was presented with acute onset loss of vision in both eyes for one week. It was followed by recurrent headaches and epistaxis. Visual acuity in the right eye was 2/60 and 3/60 in the left eye. Funduscopy showed a bilateral swollen disc...
October 2021: Curēus
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JOURNAL ARTICLE
J Y Wang, Y P Bai, L Xing, Y S Piao, X J He, C L Yue, X L Zhao, H G Liu
Objective: To investigate the clinicopathological characteristics, diagnosis, differential diagnosis and prognostic factors of SMARCB1 (INI1)-deficient sinonasal carcinoma (SDSC). Methods: Sixteen cases of SDSC diagnosed in the Department of Pathology, Beijing Tongren Hospital from January 2016 to September 2020 were enrolled. Ninety-nine cases of small round cell malignant tumors of the head and neck were selected as the control, including poorly-differentiated squamous cell carcinoma ( n= 10), poorly-differentiated adenocarcinoma ( n= 5), undifferentiated carcinoma (SNUC, n= 4), NUT carcinoma ( n= 5), neuroendocrine carcinoma ( n= 10), and other non-epithelial tumors [olfactory neuroblastoma ( n= 10), rhabdomyosarcoma ( n= 10), NK/T-cell lymphoma ( n= 10), malignant melanoma ( n= 10), Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET, n= 5)] and non-keratinizing undifferentiated nasopharyngeal carcinoma ( n= 20)...
November 8, 2021: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
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JOURNAL ARTICLE
N Mladkova, S Dogan, A Yaney, M Snuderl, J D Palmer, M E Gamez, M Bonomi, D Prevedello, R Raval, A Chakravarti, R Carrau, D M Blakaj
PURPOSE/OBJECTIVE(S): Olfactory neuroblastoma (ONB) and sinonasal undifferentiated carcinoma (SNUC) are rare sinonasal cancers with distinct clinical courses. Methylomic differences between these entities have not been previously explored. The aims of this study were to compare genome-wide methylomes of ONB and SNUC, and to explore candidate tissue of origin of SNUC using a comparative methylomics approach. MATERIALS/METHODS: We included a total of 87 sinonasal malignancy samples...
November 1, 2021: International Journal of Radiation Oncology, Biology, Physics
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JOURNAL ARTICLE
Laura Libera, Giorgia Ottini, Nora Sahnane, Fabiana Pettenon, Mario Turri-Zanoni, Alessia Lambertoni, Anna Maria Chiaravalli, Federico Leone, Paolo Battaglia, Paolo Castelnuovo, Silvia Uccella, Daniela Furlan, Carla Facco, Fausto Sessa
BACKGROUND: Poorly differentiated sinonasal carcinomas (PDSNCs) are rare and aggressive malignancies, which include squamous cell carcinoma (SCC), sinonasal undifferentiated carcinoma (SNUC), and neuroendocrine carcinomas (NEC). Several epigenetic markers have been suggested to support the histopathological classification, predict prognosis, and guide therapeutic decision. Indeed, molecularly distinct subtypes of sinonasal carcinomas, including SMARCB1-INI1 or SMARCA4 deficient sinonasal carcinoma, isocitrate dehydrogenase (IDH)-mutant SNUC, ARID1A mutant PDSNCs, and NUT carcinomas, have recently been proposed as separate entities...
October 8, 2021: Cancers
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JOURNAL ARTICLE
Juliane Fischer, Thomas Ayers
Single nuclei RNA-sequencing (sNuc-Seq) is a methodology which uses isolated nuclei instead of whole cells to profile gene expression. By using droplet microfluidic technologies, users are able to profile thousands of single transcriptomes at high throughput from their chosen tissue. This article aims to introduce sNuc-Seq as a method and its utility in multiple tissue types. Furthermore, we discuss the risks associated with the use of nuclei, which must be considered before committing to a methodology.
November 12, 2021: Emerging Topics in Life Sciences
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