Genetic alterations in esophageal cancers: Detection by next-generation sequencing and potential for therapeutic targets.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. e22065-e22065
Author(s):  
Victoria Meucci Villaflor ◽  
Deric Wheeler ◽  
Mari Iida ◽  
Smruti Vidwans ◽  
Michelle Turski ◽  
...  

2014 ◽  
Vol 20 (1) ◽  
pp. 11-22 ◽  
Author(s):  
Dimitrios Roukos ◽  
Giannis Baltogiannis ◽  
Christos Katsouras ◽  
Aris Bechlioulis ◽  
Katerina Naka ◽  
...  




Author(s):  
Edit Porpaczy ◽  
Wolfgang R. Sperr ◽  
Renate Thalhammer ◽  
Gerlinde Mitterbauer-Hohendanner ◽  
Leonhard Müllauer ◽  
...  

AbstractMixed phenotype acute leukemia (MPAL) is an uncommon disease characterized by currently only limited knowledge concerning biology, clinical presentation, and treatment outcome. We here describe a most unusual case of simultaneous occurrence of T-lymphoblastic lymphoma in cervical and mediastinal lymph nodes and acute myeloid leukemia in the bone marrow (BM) successfully treated with allogeneic stem cell transplantation (SCT). Although the blasts in both locations showed additional aberrant expression of other lineage markers (even B-cell markers), diagnostic criteria of MPAL were not fulfilled either in the LN or in the BM. We performed next generation sequencing (NGS) with the objective to look for common genetic aberrations in both tissues. Histology, immunohistochemistry, flow cytometry, AML-associated genetic alterations (FLT3, NPM1, KIT D816V, CEPBA), and clonal T-cell receptor β and γ gene rearrangements were performed according to routine diagnostic workflows. Next generation sequencing and Sanger sequencing were additionally performed in BM and LN. Somatic mutation in the EZH2 gene (p.(Arg684Cys)) was detected in the BM by NGS, and the same mutation was found in the LN. Since an identical genetic aberration (EZH2 mutation) was detected in both locations, a common progenitor with regional dependent differentiation may be involved.



Oncotarget ◽  
2014 ◽  
Vol 5 (10) ◽  
pp. 3012-3022 ◽  
Author(s):  
Filip Janku ◽  
Ahmed O. Kaseb ◽  
Apostolia M. Tsimberidou ◽  
Robert A. Wolff ◽  
Razelle Kurzrock


2012 ◽  
Vol 6 (S6) ◽  
Author(s):  
A Rose Brannon ◽  
Efsevia Vakiani ◽  
Sasinya Scott ◽  
Brooke Sylvester ◽  
Krishan Kania ◽  
...  


2019 ◽  
pp. 1-16 ◽  
Author(s):  
Roberto Carmagnani Pestana ◽  
Roman Groisberg ◽  
Jason Roszik ◽  
Vivek Subbiah

Sarcomas are a heterogeneous group of rare malignancies that exhibit remarkable heterogeneity, with more than 50 subtypes recognized. Advances in next-generation sequencing technology have resulted in the discovery of genetic events in these mesenchymal tumors, which in addition to enhancing understanding of the biology, have opened up avenues for molecularly targeted therapy and immunotherapy. This review focuses on how incorporation of next-generation sequencing has affected drug development in sarcomas and strategies for optimizing precision oncology for these rare cancers. In a significant percentage of soft tissue sarcomas, which represent up to 40% of all sarcomas, specific driver molecular abnormalities have been identified. The challenge to evaluate these mutations across rare cancer subtypes requires the careful characterization of these genetic alterations to further define compelling drivers with therapeutic implications. Novel models of clinical trial design also are needed. This shift would entail sustained efforts by the sarcoma community to move from one-size-fits-all trials, in which all sarcomas are treated similarly, to divide-and-conquer subtype-specific strategies.



Life ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 228
Author(s):  
Soyeon Kim ◽  
Joo Won Lee ◽  
Young-Seok Park

Despite the introduction of next-generation sequencing in the realm of DNA sequencing technology, it is not often used in the investigation of oral squamous cell carcinoma (OSCC). Oral cancer is one of the most frequently occurring malignancies in some parts of the world and has a high mortality rate. Patients with this malignancy are likely to have a poor prognosis and may suffer from severe facial deformity or mastication problems even after successful treatment. Therefore, a thorough understanding of this malignancy is essential to prevent and treat it. This review sought to highlight the contributions of next-generation sequencing (NGS) in unveiling the genetic alterations and differential expressions of miRNAs involved in OSCC progression. By applying an appropriate eligibility criterion, we selected relevant studies for review. Frequently identified mutations in genes such as TP53, NOTCH1, and PIK3CA are discussed. The findings of existing miRNAs (e.g., miR-21) as well as novel discoveries pertaining to OSCC are also covered. Lastly, we briefly mention the latest findings in targeted gene therapy and the potential use of miRNAs as biomarkers. Our goal is to encourage researchers to further adopt NGS in their studies and give an overview of the latest findings of OSCC treatment.





2020 ◽  
Vol 40 (12) ◽  
pp. 7057-7065
Author(s):  
KYUNG-NAM KOH ◽  
JI-YOUNG LEE ◽  
JINYEONG LIM ◽  
JUHEE SHIN ◽  
SUNG HAN KANG ◽  
...  


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