scholarly journals P1.09-31 Clinicopathological Features and Genomic Profiling of Pulmonary Blastoma with High-Grade Fetal Adenocarcinoma Component

2019 ◽  
Vol 14 (10) ◽  
pp. S508
Author(s):  
J. Zhao ◽  
C. Xiang ◽  
P. Wang ◽  
P. Guo ◽  
J. Zheng ◽  
...  
Keyword(s):  
Clinicopathological Features ◽  
Pulmonary Blastoma ◽  
Genomic Profiling ◽  
High Grade ◽  
Adenocarcinoma Component

scholarly journals Loss of 5′-Methylthioadenosine Phosphorylase (MTAP) is Frequent in High-Grade Gliomas; Nevertheless, it is Not Associated with Higher Tumor Aggressiveness

Cells ◽  
2020 ◽  
Vol 9 (2) ◽  
pp. 492 ◽  
Author(s):  
Weder Pereira de Menezes ◽  
Viviane Aline Oliveira Silva ◽  
Izabela Natália Faria Gomes ◽  
Marcela Nunes Rosa ◽  
Maria Luisa Corcoll Spina ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Cell Lines ◽  
In Silico ◽  
Glioma Cell ◽  
Clinicopathological Features ◽  
Migration And Invasion ◽  
High Grade ◽  
Methylthioadenosine Phosphorylase ◽  
Frequent Event ◽  
High Grade Gliomas

The 5’-methylthioadenosine phosphorylase (MTAP) gene is located in the chromosomal region 9p21. MTAP deletion is a frequent event in a wide variety of human cancers; however, its biological role in tumorigenesis remains unclear. The purpose of this study was to characterize the MTAP expression profile in a series of gliomas and to associate it with patients’ clinicopathological features. Moreover, we sought to evaluate, through glioma gene-edited cell lines, the biological impact of MTAP in gliomas. MTAP expression was evaluated in 507 glioma patients by immunohistochemistry (IHC), and the expression levels were associated with patients’ clinicopathological features. Furthermore, an in silico study was undertaken using genomic databases totalizing 350 samples. In glioma cell lines, MTAP was edited, and following MTAP overexpression and knockout (KO), a transcriptome analysis was performed by NanoString Pan-Cancer Pathways panel. Moreover, MTAP’s role in glioma cell proliferation, migration, and invasion was evaluated. Homozygous deletion of 9p21 locus was associated with a reduction of MTAP mRNA expression in the TCGA (The Cancer Genome Atlas) - glioblastoma dataset (p < 0.01). In addition, the loss of MTAP expression was markedly high in high-grade gliomas (46.6% of cases) determined by IHC and Western blotting (40% of evaluated cell lines). Reduced MTAP expression was associated with a better prognostic in the adult glioblastoma dataset (p < 0.001). Nine genes associated with five pathways were differentially expressed in MTAP-knockout (KO) cells, with six upregulated and three downregulated in MTAP. Analysis of cell proliferation, migration, and invasion did not show any significant differences between MTAP gene-edited and control cells. Our results integrating data from patients as well as in silico and in vitro models provide evidence towards the lack of strong biological importance of MTAP in gliomas. Despite the frequent loss of MTAP, it seems not to have a clinical impact in survival and does not act as a canonic tumor suppressor gene in gliomas.

Genomic profiling of the residual disease of advanced high‐grade serous ovarian cancer after neoadjuvant chemotherapy

2019 ◽  
Vol 146 (7) ◽  
pp. 1851-1861 ◽  
Author(s):  
Yong J. Lee ◽  
Dachan Kim ◽  
Jung E. Shim ◽  
Su‐Jin Bae ◽  
Yu‐Jin Jung ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Neoadjuvant Chemotherapy ◽  
Residual Disease ◽  
Genomic Profiling ◽  
High Grade ◽  
Serous Ovarian Cancer

scholarly journals Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component

2021 ◽  
Vol 10 (3) ◽  
pp. 1292-1304
Author(s):  
Masaki Suzuki ◽  
Rika Kasajima ◽  
Tomoyuki Yokose ◽  
Hiroyuki Ito ◽  
Eigo Shimizu ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Molecular Analysis ◽  
High Grade ◽  
Adenocarcinoma Component

scholarly journals Genomic Profiling Identifies Association of IDH1/IDH2 Mutation with Longer Relapse-Free and Metastasis-Free Survival in High-Grade Chondrosarcoma

2019 ◽  
Vol 26 (2) ◽  
pp. 419-427 ◽  
Author(s):  
Guo Gord Zhu ◽  
Khedoudja Nafa ◽  
Narasimhan Agaram ◽  
Ahmet Zehir ◽  
Ryma Benayed ◽  
...  
Keyword(s):  
Genomic Profiling ◽  
High Grade ◽  
Free Survival ◽  
Idh2 Mutation

Clinical utility and treatment outcome of comprehensive genomic profiling in high grade glioma patients

2016 ◽  
Vol 130 (1) ◽  
pp. 211-219 ◽  
Author(s):  
Deborah T. Blumenthal ◽  
Addie Dvir ◽  
Alexander Lossos ◽  
Tzahala Tzuk-Shina ◽  
Tzach Lior ◽  
...  
Keyword(s):  
Treatment Outcome ◽  
Clinical Utility ◽  
High Grade Glioma ◽  
Genomic Profiling ◽  
High Grade ◽  
Comprehensive Genomic Profiling

scholarly journals A Case of Biphasic Pulmonary Blastoma (High-grade Adenocarcinoma of Fetal Lung Type with a Sarcomatous Component).

Haigan ◽  
1997 ◽  
Vol 37 (2) ◽  
pp. 249-254 ◽  
Author(s):  
Kazuhiko Date ◽  
Shinji Kato ◽  
Kazuo Kondo ◽  
Masashi Yoshihara ◽  
Kazushige Beppu ◽  
...  
Keyword(s):  
Fetal Lung ◽  
Pulmonary Blastoma ◽  
High Grade ◽  
Sarcomatous Component

scholarly journals Clinicopathologic features and genomic analysis of pulmonary blastomatoid carcinosarcoma

2019 ◽  
Author(s):  
Jikai Zhao ◽  
Chan Xiang ◽  
Ruiying Zhao ◽  
Ping Guo ◽  
Jingjing Zheng ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Genomic Analysis ◽  
Fetal Lung ◽  
Molecular Profile ◽  
Pulmonary Blastoma ◽  
Low Grade ◽  
High Grade ◽  
Clinicopathologic Features ◽  
Epithelial Component ◽  
Additional Mutation

Abstract Background: This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor. Methods: Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinic-pathologic information and prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing. Results: The epithelial component in patient one was consistent of low-grade and high-grade fetal lung adenocarcinoma and displayed aberrant nuclear expression of β-catenin and missense mutation of CTNNB1 in its low-grade epithelial. The epithelial component in another two patients were consistent of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma and harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were primitive round/spindle cells in morphology without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1 and LRP1B were shared by both epithelial and mesenchymal components. Epithelial had additional mutations in BCOR, CTNNB1, CTCF, FAT1 and DICER1. In patient two, 12 mutations were shared. The epithelial had BRCA2 mutations and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN andRICTOR. Patient three had 6 shared mutations. The epithelial had an additional mutation in KAT6A and the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor. Conclusions: Parallel detection of genetic abnormalities in epithelial and mesenchymal components of blastomatoid carcinosarcoma could provide evidence for tumor differentiation, molecular targeting and further distinguish them from conventional pulmonary blastoma and carcinosarcoma.

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