scholarly journals MPTH-57. GENOTYPING OF GLIOMA INCLUDING 1p19q CODELETION BY TARGETED SEQUENCING

2016 ◽  
Vol 18 (suppl_6) ◽  
pp. vi118-vi118
Author(s):  
Hiroshi Nishihara ◽  
Shigeki Tanishima ◽  
Sayaka Yuzawa ◽  
Lei Wang ◽  
Shigeru Yamaguchi ◽  
...  
2018 ◽  
Vol 28 (11) ◽  
pp. 251-255 ◽  
Author(s):  
Sonal Singh ◽  
Zhiying Wang ◽  
Mohamed H. Shahin ◽  
Taimour Y. Langaee ◽  
Yan Gong ◽  
...  

2021 ◽  
Author(s):  
Deng‐Feng Zhang ◽  
Hui‐Long Li ◽  
Quanzhen Zheng ◽  
Rui Bi ◽  
Min Xu ◽  
...  

Mitochondrion ◽  
2021 ◽  
Author(s):  
Ruoying Chen ◽  
Micheala A Aldred ◽  
Weiling Xu ◽  
Joe Zein ◽  
Peter Bazeley ◽  
...  

Author(s):  
Julian R. Starr ◽  
Pedro Jiménez‐Mejías ◽  
Alexandre R. Zuntini ◽  
Étienne Léveillé‐Bourret ◽  
Ilias Semmouri ◽  
...  
Keyword(s):  

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 342 ◽  
Author(s):  
Enrico Franceschi ◽  
Dario De Biase ◽  
Vincenzo Di Nunno ◽  
Annalisa Pession ◽  
Alicia Tosoni ◽  
...  

Background: Non-canonical mutations of the isocitrate dehydrogenase (IDH) genes have been described in about 20–25% and 5–12% of patients with WHO grade II and III gliomas, respectively. To date, the prognostic value of these rare mutations is still a topic of debate. Methods: We selected patients with WHO grade II and III gliomas and IDH1 mutations with available tissue samples for next-generation sequencing. The clinical outcomes and baseline behaviors of patients with canonical IDH1 R132H and non-canonical IDH1 mutations were compared. Results: We evaluated 433 patients harboring IDH1 mutations. Three hundred and ninety patients (90.1%) had a canonical IDH1 R132H mutation while 43 patients (9.9%) had a non-canonical IDH1 mutation. Compared to those with the IDH1 canonical mutation, patients with non-canonical mutations were younger (p < 0.001) and less frequently presented the 1p19q codeletion (p = 0.017). Multivariate analysis confirmed that the extension of surgery (p = 0.003), the presence of the 1p19q codeletion (p = 0.001), and the presence of a non-canonical mutation (p = 0.041) were variables correlated with improved overall survival. Conclusion: the presence of non-canonical IDH1 mutations could be associated with improved survival among patients with IDH1 mutated grade II–III glioma.


Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2993
Author(s):  
Barbara Kiesewetter ◽  
Christiane Copie-Bergman ◽  
Michael Levy ◽  
Fangtian Wu ◽  
Jehan Dupuis ◽  
...  

Background: In Western countries, the prevalence of gastric mucosa-associated lymphoid tissue (MALT) lymphoma has declined over the last three decades. Contemporaneously, H. pylori negative gastric MALT lymphoma is increasingly encountered, and their genetic basis and clinical features remain elusive. Methods: A total of 57 cases of H. pylori negative gastric MALT lymphoma were reviewed and investigated for chromosome translocation by fluorescence in-situ hybridization and for somatic mutations by the targeted sequencing of 93 genes. Results: MALT1 translocation, most likely t(11;18)(q21;q21)/BIRC3-MALT1, was detected in 39% (22/57) cases, and IGH translocation was further seen in 12 MALT1-negative cases, together accounting for 60% of the cohort. Targeted sequencing was successful in 35 cases, and showed frequent mutations in NF-κB signaling pathways (TNFAIP3 = 23%, CARD11 = 9%, MAP3K14 = 9%), together affecting 14 cases (40%). The NF-κB pathway mutations were mutually exclusive from MALT1, albeit not IGH translocation, altogether occurring in 86% of cases. There was no significant correlation between the genetic changes and clinicopathological parameters. The patients showed a median of progression-free survival (PFS) of 66.3 months, and a significant superior PFS when treated with systemic versus antibiotic therapy (p = 0.004). Conclusion: H. pylori negative gastric MALT lymphoma is characterized by highly frequent genetic changes in the NF-κB signaling pathways.


2021 ◽  
Author(s):  
R. Abdollahi‐Arpanahi ◽  
H. A. Pacheco ◽  
F. Peñagaricano

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