scholarly journals Rare forms of autoimmune blistering diseases

2021 ◽  
Vol 97 (4) ◽  
pp. 217-228
Author(s):  
Dóra Plázár ◽  
◽  
Márta Medvecz ◽  
Klaudia Preisz ◽  
Miklós Sárdy ◽  
...  

The authors summarize up-to-date knowledge about the rare forms of autoimmune blistering diseases, focusing on their clinical features, diferential diagnosis and the modern therapy modalities. Besides the well known pemphigus and pemphigoid diseases, the knowledge about the rare autoimmune blistering diseases has been expanded. Although at this time, there is no signifcant diference between these diseases with regard to their therapy, the diferential diagnosis is important for knowing their exact prevalences and it may lead to individual targeted therapies in the future.

2021 ◽  
Vol 22 (19) ◽  
pp. 10222
Author(s):  
Jacob A. Pawloski ◽  
Hassan A. Fadel ◽  
Yi-Wen Huang ◽  
Ian Y. Lee

Meningiomas represent a phenotypically and genetically diverse group of tumors which often behave in ways that are not simply explained by their pathologic grade. The genetic landscape of meningiomas has become a target of investigation as tumor genomics have been found to impact tumor location, recurrence risk, and malignant potential. Additionally, targeted therapies are being developed that in the future may provide patients with personalized chemotherapy based on the genetic aberrations within their tumor. This review focuses on the most common genetic mutations found in meningiomas of all grades, with an emphasis on the impact on tumor location and clinically relevant tumor characteristics. NF-2 and the non-NF-2 family of genetic mutations are summarized in the context of low-grade and high-grade tumors, followed by a comprehensive discussion regarding the genetic and embryologic basis for meningioma location and phenotypic heterogeneity. Finally, targeted therapies based on tumor genomics currently in use and under investigation are reviewed and future avenues for research are suggested. The field of meningioma genomics has broad implications on the way meningiomas will be treated in the future, and is gradually shifting the way clinicians approach this diverse group of tumors.


2009 ◽  
Vol 14 (7) ◽  
pp. 706-716 ◽  
Author(s):  
Susana Banerjee ◽  
Martin Gore

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 9057-9057
Author(s):  
Eri Sugiyama ◽  
Shingo Matsumoto ◽  
Nobuaki Kobayashi ◽  
Hiromi Aono ◽  
Masato Shingyoji ◽  
...  

9057 Background: Molecular-targeted therapies for precision medicine in squamous cell lung cancer (SqLC) have not yet been established. To identify precise patients for targeted therapies and to reveal their clinical characteristics, we have operated clinical sequencing of advanced SqLCs in our nationwide genomic screening project in Japan (LC-SCRUM-Japan) since March 2015. Methods: As of December 2016, 190 institutions across Japan were participating and 263 advanced SqLC patients had been enrolled in this project. Submitted tumor samples were subjected to a next-generation sequencing system, Oncomine™ Comprehensive Assay, enabling the simultaneous analysis of 143 cancer-related genes. Results: The median age of the 263 patients was 74 years (range, 27-87 years). Two hundred thirty (87%) were male and most patients (97%) were smokers. Among 211 available samples, potentially targetable gene alterations were detected in 58 (27%). Based on these gene alterations, the patients were subdivided into 4 groups, consisting of 25 (12%) with genetic alterations of FGFR family (FGFR type; 23 FGFR1 amplifications, 1 FGFR2 amplification and 1 FGFR3 fusion), 20 (9%) with genetic alterations of the PI3K pathway (PI3K type; 10 PIK3CA mutations, 8 PTEN mutations and 2 AKT mutations), 15 (7%) with other oncogene alterations (KRAS/EGFR/ALK type; 10 KRAS mutations, 3 EGFR mutations and 2 ALK fusions) and others. Comparative analyses of clinical characteristics between the 4 types showed that brain metastases were significantly more frequent in the FGFR type than the others (24% vs. 5%, p = 0.0007), and females (40% vs. 11%, p = 0.0009) and never-smokers (21% vs. 3%, p = 0.0004) were significantly frequent in the KRAS/EGFR/ALK type compared to the others. The prognostic significance of these genetic alterations has not yet been evaluated because of short follow-up time (median, 8.5 months). Conclusions: A series of potentially targetable gene alterations have been identified in SqLC patients. The SqLC patients had distinct clinical features according to the molecular subtypes, and genotype-directed therapeutic strategy should be developed for the individual subtypes.


2015 ◽  
Vol 36 (4) ◽  
pp. 203-214 ◽  
Author(s):  
Euan Parnell ◽  
Timothy M. Palmer ◽  
Stephen J. Yarwood

2012 ◽  
Vol 18 (10) ◽  
pp. 2780-2790 ◽  
Author(s):  
Daniel W. Lee ◽  
David M. Barrett ◽  
Crystal Mackall ◽  
Rimas Orentas ◽  
Stephan A. Grupp

2021 ◽  
Vol 97 (5) ◽  
pp. 245-250
Author(s):  
Péter Holló ◽  
◽  
Éva Anna Piros ◽  
Rolland Gyulai

The biological therapy of moderate-to-severe psoriasis has a history of almost two decades. During this period our knowledge of the pathomechanism of the disease has become more accurate, leading to the development of more and more targeted therapies. Increased efficacy through more specific inhibition is accompanied by less adverse events. In this article, the authors summarize the current possibilities for the modern treatment of psoriasis and the key clinical insights into these options. They discuss the future therapeutic directions and new agents.


2019 ◽  
Vol 5 (5) ◽  
pp. 263-275 ◽  
Author(s):  
Danica Xie ◽  
Asli Bilgic-Temel ◽  
Nada Abu Alrub ◽  
Dédée F. Murrell

2020 ◽  
Vol 79 (7) ◽  
pp. 988-990 ◽  
Author(s):  
Carlos Sanchez-Piedra ◽  
Cesar Diaz-Torne ◽  
Javier Manero ◽  
José M Pego-Reigosa ◽  
Íñigo Rúa-Figueroa ◽  
...  

2015 ◽  
Vol 11 (16) ◽  
pp. 2315-2327 ◽  
Author(s):  
Anna S Berghoff ◽  
Matthias Preusser

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