Article
Urology & Nephrology
Kristen M. Meier, Jenna Demedis, Michael Edwards, Nicholas G. Cost
Summary: This article presents a rare and aggressive case of extracranial malignant rhabdoid tumors (MRT) and discusses an overview of extracranial MRT tumor biology and treatment considerations.
Review
Oncology
Victor Ho-Fun Lee, Raymond King-Yin Tsang, Anthony Wing Ip Lo, Sum-Yin Chan, Joseph Chun-Kit Chung, Chi-Chung Tong, To-Wai Leung, Dora Lai-Wan Kwong
Summary: SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare and aggressive malignancy with poor survival outcomes. The optimal treatment strategy for this disease is yet to be determined. T4b disease at diagnosis was found to be the only prognostic factor of overall survival.
Article
Pathology
Yu-Ju Su, Yi-Hsuan Lee, Min-Shu Hsieh
Summary: SMARCB1(INI1)-deficient sinonasal carcinoma is a recently recognized entity with unique cytomorphology, providing a valuable tool for identification and classification in the diagnosis of this specific type of carcinoma.
PATHOLOGY INTERNATIONAL
(2022)
Article
Pathology
Christian Thomas, Aniello Federico, Martin Sill, Susanne Bens, Florian Oyen, Karolina Nemes, Pascal D. Johann, Christian Hartmann, Wolfgang Hartmann, David Sumerauer, Vincenzo Paterno, Amir Samii, Uwe Kordes, Reiner Siebert, Michael C. Fruhwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Summary: In this study, three cases of malignant central nervous system tumors in children were reported, all located in the temporal lobe. These tumors exhibited molecular features of PXA, including homozygous SMARCB1 region deletions and BRAF V600E mutations. Interestingly, DNA methylation analysis did not group these tumors with AT/RT, highlighting the importance of molecular characterization in identifying such cases.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Oncology
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
Summary: This study performed histopathological, immunohistochemical, and molecular analyses on PDSNCs, revealing a correlation between SWI/SNF complex and IDH2 defects and abnormal methylation levels, which were associated with a worse prognosis.
Review
Oncology
Juri Fuchs, Anastasia Murtha-Lemekhova, Markus Kessler, Fabian Ruping, Patrick Guenther, Alexander Fichtner, Dominik Sturm, Katrin Hoffmann
Summary: Malignant rhabdoid tumors of the liver are rare pediatric liver tumors with a devastating prognosis. This study found that there is a large overlap between malignant rhabdoid liver tumors and small cell undifferentiated liver tumors, suggesting that they should be classified as one entity. Chemotherapy regimens initially used for soft tissue sarcoma were more effective in treating malignant rhabdoid tumors compared to hepatoblastoma-directed chemotherapy. Surgical tumor resection combined with intensive chemotherapy is the recommended treatment for these tumors.
Article
Cell Biology
Izumi Kinoshita, Kenichi Kohashi, Hidetaka Yamamoto, Yuichi Yamada, Takeshi Inoue, Koichi Higaki, Norihiro Teramoto, Yumi Oshiro, Yasuharu Nakashima, Yoshinao Oda
Summary: Complete loss of SMARCB1/INI1 in soft-tissue tumors is often associated with high-grade malignancy and poor prognosis. A novel subset named 'myxoepithelioid tumor with choroid features' (METC) was proposed, which represents an entity with intermediate malignancy that can be controlled with appropriate treatment.
Article
Otorhinolaryngology
Kevin J. Contrera, Nasim Shakibai, Shirley Y. Su, Maria K. Gule-Monroe, Dianna Roberts, Bledi Brahimaj, Michelle D. Williams, Renata Ferrarotto, Jack Phan, Brandon Gunn, Shaan Raza, Franco DeMonte, Ehab Y. Hanna
Summary: The objective of this study was to report outcomes of 19 consecutive patients with SMARCB1 (INI-1)-deficient sinonasal carcinoma. Patients were treated from 2014 to 2021 and followed for a median of 22.3 months. The median overall survival (OS) and disease-free survival (DFS) were 31.8 and 9.9 months, respectively. Patients with nasal cavity or maxillary sinus tumors had significantly better disease-specific survival (DSS) and DFS compared to patients with other sinonasal sites. Additionally, induction chemotherapy was associated with a lower risk of disease-related death.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Review
Oncology
Huy Gia Vuong, Thoa Le, Trang T. B. Le, Hieu Trong Le, Edward T. El-Rassi, Kibwei A. McKinney, Ian F. Dunn
Summary: Introduction: We investigated the clinicopathological features and prognoses of the new molecularly defined entities in the latest edition of the WHO classification of SNC. Methods: Integrated data were combined into an IPD meta-analysis. Results: NUT carcinoma was associated with younger age and inferior disease-specific survival. SMARCB1-deficient tumors presented later in life and had a higher rate of radiotherapy administration. SMARCA4-deficiency was mostly found in teratocarcinosarcoma.
FRONTIERS IN ONCOLOGY
(2023)
Article
Clinical Neurology
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. Fruhwald, Steffen Albrecht, Ganjam V. Kalpana, Martin Hasselblatt
Summary: Mutations in the tumor suppressor gene SMARCB1 can lead to cytoplasmic localization of the SMARCB1 protein in certain tumors, impacting tumor suppressor function. Inhibiting the nuclear export of mutant SMARCB1 protein may be a potential targeted therapy in these cases.
ACTA NEUROPATHOLOGICA
(2021)
Review
Clinical Neurology
Ru Wang, Lingwa Wang, Jugao Fang, Qi Zhong, Lizhen Hou, Hongzhi Ma, Ling Feng, Shizhi He, Chengshuo Wang, Luo Zhang
Summary: Sinonasal carcinoma with SMARCB1 deficiency predominantly affects males, with common symptoms of epistaxis and headache, and frequent involvement of the ethmoid sinus. Early diagnosis of SDSC through immunohistochemical analysis and treatment with radical surgery resection combined with chemoradiotherapy may offer better outcomes.
WORLD NEUROSURGERY
(2022)
Review
Pathology
Zhonghua Liu, Mukund Seshadri, Vishal Gupta, Antonios Papanicolau-Sengos, Mihai Merzianu
Summary: INI1-deficient thyroid carcinoma, though extremely rare, shares similar phenotype, genotype, and biology with other INI1-deficient tumors, exhibiting aggressive behavior. Characterized by epithelioid and plasmacytoid/rhabdoid morphology, absence of INI1 nuclear expression, and potential for targeted therapy identification through INI1 protein expression testing.
HEAD & NECK PATHOLOGY
(2021)
Article
Medicine, Research & Experimental
Sanna Viitasalo, Taru Ilmarinen, Leena-Maija Aaltonen, Jaana Hagstrom, Maija Hytonen, Sari Hammaren-Malmi, Petra Pietarinen, Pia Jarvenpaa, Teemu Kinnari, Ahmed Geneid, Markus Lilja
Summary: This retrospective study assessed the epidemiological information of patients treated for sinonasal inverted papilloma (SNIP) at Helsinki University Hospital between 1984 and 2014, and found a very low malignant transformation rate of SNIP. The study also revealed that SNIP patients were not prone to HPV-associated non-sinonasal malignancies. Additionally, endoscopic resection and attachment-oriented surgery have become the predominant approaches in SNIP treatment, with a reduced recurrence rate.
Article
Oncology
Alberto Righi, Stefania Cocchi, Margherita Maioli, Matteo Zoli, Federica Guaraldi, Elisa Carretta, Giovanna Magagnoli, Ernesto Pasquini, Sofia Melotti, Gianfranco Vornetti, Caterina Tonon, Diego Mazzatenta, Sofia Asioli
Summary: This study aimed to analyze the expression of SMARCB1 protein in skull base chordomas and its association with clinicopathological parameters and patient survival. The results showed that partial loss of SMARCB1 protein was observed in 32.3% of the cases, while the remaining cases showed strong nuclear expression. The study also found that genetic mutations affecting SMARCB1 expression did not significantly impact patient prognosis.
FRONTIERS IN ONCOLOGY
(2023)
Article
Clinical Neurology
Marco Crocco, Marta Panciroli, Claudia Milanaccio, Cristina Morerio, Antonio Verrico, Maria Luisa Garre, Natascia Di Iorgi, Valeria Capra
Summary: AT/RTs in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene, but can also result from the constitutional ring chromosome 22. Individuals with r22 may show similar features as those with PMDS, but data on the therapeutic and prognostic implications of r22 in AT/RT and PMDS is limited.
FRONTIERS IN NEUROLOGY
(2021)
Article
Microbiology
Nico Gruener, S. Viazov, K. Korn, A. Knoell, M. Trippler, J. F. Schlaak, G. Gerken, M. Roggendorf, R. Stefan Ross
INTERNATIONAL JOURNAL OF MEDICAL MICROBIOLOGY
(2015)
Article
Virology
Felix Goevert, Andi Krumbholz, Karsten Witt, Franziska Hopfner, Thorsten Feldkamp, Klaus Korn, Antje Knoell, Olav Jansen, Guenther Deuschl, Helmut Fickenscher
JOURNAL OF CLINICAL VIROLOGY
(2015)
Article
Virology
Daniela Huzly, Klaus Korn, Sibylle Bierbaum, Bjoern Eberle, Valeria Falcone, Antje Knoell, Philipp Steininger, Marcus Panning
ARCHIVES OF VIROLOGY
(2016)
Article
Infectious Diseases
A. Plentz, W. Jilg, B. Kochanowski, B. Ibach, A. Knoell
Article
Infectious Diseases
K. Korn, H. Reil, A. Ensser, A. Knoell
Article
Cell Biology
Anja Rogler, Michael Rogenhofer, Albert Borchardt, Jens-Claudio Lunz, Antje Knoell, Ferdinand Hofstaedter, Andrea Tannapfel, Wolf Wieland, Arndt Hartmann, Robert Stoehr
Article
Urology & Nephrology
Johannes Jacobi, Antonina Prignitz, Maike Buettner, Klaus Korn, Alexander Weidemann, Karl F. Hilgers, Katharina Heller, Joachim Velden, Antje Knoell, Bernd Wullich, Christoph May, Kai-Uwe Eckardt, Kerstin U. Amann
Article
Pathology
Simone Bertz, Armin Ensser, Robert Stoehr, Markus Eckstein, Hendrik Apel, Doris Mayr, Maike Buettner-Herold, Nadine Therese Gaisa, Eva Comperat, Bernd Wullich, Arndt Hartmann, Antje Knoell
Article
Obstetrics & Gynecology
Frederik A. Stuebs, Paul Gass, Anna K. Dietl, Carla E. Schulmeyer, Werner Adler, Carol Geppert, Arndt Hartmann, Antje Knoell, Matthias W. Beckmann, Martin C. Koch
Summary: This study found that HPV-16 is the most common type of hrHPV in HSIL+ lesions, especially in women aged 35 and below. Therefore, women aged 35 and above with persistent infection with this type of hrHPV need careful surveillance, as they are at high risk of progression to cervical cancer.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2021)
Article
Pathology
K. Amann, P. Boor, T. Wiech, J. Singh, E. Vonbrunn, A. Knoell, M. Hermann, M. Buettner-Herold, C. Daniel, A. Hartmann
Summary: In severe cases of COVID-19, acute kidney injury (AKI) is a common and severe organ complication, particularly affecting patients with chronic kidney disease. Although SARS-CoV-2 RNA has been detected in kidney tissue, the use of electron microscopy to visualize the virus is challenging and the exact contribution of the virus to kidney damage in COVID-19 remains unclear.
Article
Virology
Ralf Wagner, David Peterhoff, Stephanie Beileke, Felix Gunther, Melanie Berr, Sebastian Einhauser, Anja Schutz, Hans Helmut Niller, Philipp Steininger, Antje Knoll, Matthias Tenbusch, Clara Maier, Klaus Korn, Klaus J. Stark, Andre Gessner, Ralph Burkhardt, Michael Kabesch, Holger Schedl, Helmut Kuchenhoff, Annette B. Pfahlberg, Iris M. Heid, Olaf Gefeller, Klaus Uberla
Summary: The study found that the SARS-CoV-2 outbreak in Tirschenreuth County had a particularly high case fatality ratio (CFR), with senior care homes accounting for 45% of COVID-19-related deaths. Age was identified as a key determinant of IFR, with current smokers potentially having a lower risk of infection.
Article
Medicine, General & Internal
Frederik A. Stuebs, Anna K. Dietl, Annika Behrens, Werner Adler, Carol Geppert, Arndt Hartmann, Antje Knoell, Matthias W. Beckmann, Grit Mehlhorn, Carla E. Schulmeyer, Paul Gass, Martin C. Koch
Summary: This research aims to estimate the rate of concordance, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of colposcopy for high-grade squamous lesions and carcinomas (HSIL+). The results show that colposcopy is an important, feasible, and effective method. The concordance rate is lowest for TZ3 and highest for colposcopists with more than 10 years' experience. Careful examination is needed for women with TZ3 who are over 35 years old, as they are at the highest risk of being misdiagnosed.
Article
Gastroenterology & Hepatology
A. Knoell, S. Boehm, J. Hahn, E. Holler, W. Jilg
JOURNAL OF VIRAL HEPATITIS
(2007)
Article
Gastroenterology & Hepatology
G. Lock, M. Dirscherl, F. Obermeier, C. M. Gelbmann, C. Hellerbrand, A. Knoell
JOURNAL OF VIRAL HEPATITIS
(2006)