scholarly journals First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing

Diagnostics ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 35 ◽  
Author(s):  
Yi-Che Chang Chien ◽  
Attila Mokánszki ◽  
Hsuan-Ying Huang ◽  
Raimundo Geronimo Silva ◽  
Chien-Chin Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Tp53 Gene ◽  
Molecular Profile ◽  
Molecular Signaling ◽  
Next Generation ◽  
Rb1 Gene ◽  
Cellular Angiofibroma ◽  
Sarcomatous Transformation ◽  
Mesenchymal Neoplasm ◽  
Generation Sequencing

Cellular angiofibroma is a rare benign mesenchymal neoplasm most commonly occurring in the vulvovaginal region in women and the inguinoscrotal region in men with specific genetic deletion involved in the RB1 gene in chromosome 13q14 region. Atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation are recently described variants showing worrisome morphological features and strong, diffuse p16 expression. Nevertheless, the molecular profile of these tumor entities is largely unknown. We carried out a next generation sequencing (NGS) study from six cases of atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation. We were able to identify oncogenic TP53 gene mutations (33%) which may contribute to pathogenesis also resulting in p16 overexpression. In addition, RB1 gene alterations generally present were identified. Since it is a recently described and rare entity, the whole molecular signaling pathway is still largely obscured and the analysis of larger cohorts is needed to elucidate this issue.

scholarly journals Diagnostic deep‐targeted next‐generation sequencing assessment of TP53 gene mutations in multiple myeloma from the whole bone marrow

2020 ◽  
Vol 189 (4) ◽  
Author(s):  
Anna Petrackova ◽  
Jiri Minarik ◽  
Lenka Sedlarikova ◽  
Tereza Libigerova ◽  
Alzbeta Hamplova ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Tp53 Gene ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing ◽  
Tp53 Gene Mutations

scholarly journals A Canadian guideline on the use of next-generation sequencing in oncology

2019 ◽  
Vol 26 (2) ◽  
Author(s):  
S. Yip ◽  
A. Christofides ◽  
S. Banerji ◽  
M. R. Downes ◽  
I. Izevbaye ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Best Practices ◽  
Sample Selection ◽  
Molecular Profile ◽  
Next Generation ◽  
Canadian Guideline ◽  
Molecular Tests ◽  
Management Guidance ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Rapid advancements in next-generation sequencing (ngs) technology have created an unprecedented opportunity to decipher the molecular profile of tumours to more effectively prevent, diagnose, and treat cancer. Oncologists now have the option to order molecular tests that can guide treatment decisions. However, to date, most oncologists have received limited training in genomics, and they are now faced with the challenge of understanding how such tests and their interpretation align with patient management. Guidance on how to effectively use ngs technology is therefore needed to aid oncologists in applying the results of genomic tests. The Canadian guideline presented here describes best practices and unmet needs related to ngs-based testing for somatic variants in oncology, including clinical application, assay and sample selection, bioinformatics and interpretation of reports performed by laboratories, patient communication, and clinical trials.

Identification of genetic alterations in childhood and adolescence glioblastoma (GBM) using next generation sequencing strategy.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e14547-e14547
Author(s):  
Debora Cabral de Carvalho Corrêa ◽  
Indhira Dias-Oliveira ◽  
Maria Teresa de Seixas Alves ◽  
Nasjla Saba-Silva ◽  
Andrea Maria Capellano ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Classification ◽  
Genetic Alterations ◽  
Therapeutic Strategies ◽  
Molecular Profile ◽  
Childhood And Adolescence ◽  
Next Generation ◽  
Loss Of Function ◽  
Sequencing Strategy ◽  
Generation Sequencing

e14547 Background: Glioblastoma (GBM) is the most aggressive brain malignancy with a heterogeneity molecular profile and accounts for no more than 3-5% of Central Nervous System tumors in children. Despite its rarity, pediatric GBM pertain different molecular genetics, outcome and effectiveness to therapies and remains an equally lethal tumor in children. Identification of genetic alterations in GBM of childhood and adolescence is important to refine molecular classification, define prognosis and therapeutic strategies. We aimed to detect and investigate molecular changes with potential prognostic marker and therapeutic target in GBM, using next generation sequencing (NGS) strategy. Methods: We selected 41 GBM samples from patients treated at Pediatric Oncology Institute/GRAACC. NGS was performed to identified genetic alterations in tumor samples using Oncomine Childhood Cancer Research Assay (OCCRA) panel, specific genetic panel for childhood and adolescence neoplasms. Results: We selected 41 GBM samples and identified 33 mutated genes. The most commonly detected genetic alterations were involving TP53, PDGFRA, PIK3CA, NF1, MYC, MET and genes with histone-related functions, including H3F3A and ATRX. Mutations in H3F3A K28M, ATRX and TP53 were most recurrent. ATRX alterations, either nonsense substitution or frameshift deletion, were exclusively found in patients with H3F3A K28M mutations. TP53 loss-of-function was exclusive in 9 of 41 (22%) tumors. In 7 of 9 cases (78%) harboring both H3F3A and TP53 mutations, patients died due to disease progression . In these patients, H3F3A-TP53 mutation is suggested to be unfavorable prognostic factor. Copy number alterations were found in 30% of GBM cases and PDGFRA-amplifications were the most frequent. PDGFRA-amplification was exclusively found in patients with H3F3A K28M mutations and 75% of these patients did not survived longer than two years. Conclusions: Molecular profiling based on NGS genetic panel, specific for pediatric tumors, can provide information about potential prognostic biomarkers for GBM of childhood and adolescence. Thus, wider understanding about GBM biologic heterogeneity may lead to personalized therapeutic strategies for pediatric patients.

Next generation sequencing to reveal potentially actionable alterations in the majority of patients with hematologic malignancies.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e23133-e23133
Author(s):  
Natalie Galanina ◽  
Aaron Goodman ◽  
Lisa Tran ◽  
Rafael Bejar ◽  
Michael Y. Choi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Myeloproliferative Neoplasm ◽  
Hematologic Malignancies ◽  
Lymphocytic Leukemia ◽  
Molecular Profile ◽  
Genomic Alteration ◽  
Next Generation ◽  
Genomic Alterations ◽  
Generation Sequencing ◽  
Adequate Tissue

e23133 Background: Next generation sequencing (NGS) permits identification of genomic alterations that inform disease classification and prognosis and may also guide therapy selection. Methods: Using NGS (406 genes), we analyzed the clinical characteristics, genomic alterations, and potential actionability of 235 patients (pts) with diverse hematologic malignancies. Results: A total of 227 pts (96.5%) (59% men; median age 59 yrs) had adequate tissue for analysis. Most common diagnoses included myelodysplastic syndrome (22.9%), chronic lymphocytic leukemia (17.2%), non-Hodgkin lymphoma (13.2%), myeloproliferative neoplasm (9.2%), acute myeloid (11%) / lymphoid (8.8%) leukemia and multiple myeloma (7.5%). The majority of pts (N = 197/227 (86.8%)) harbored ≥1 genomic alteration(s); 164 pts (72%) had ≥1 potentially actionable alteration(s) targetable by an existing FDA-approved drug (mostly off label) or an investigational agent. A total of 551 distinct alteration s were seen with the most common involving TP53 (9.3%), TET2 (4.2%), DNMT3A (3.3%), ASXL1 (2.5%), MLL (2.5%), KRAS (2.2%). The vast majority of pts had unique molecular profile. Conclusions: About 96.5% of pts with hematologic malignancies have adequate tissue for NGS. Most pts had unique molecular signatures, and 72% had alterations that may be pharmacologically tractable. [Table: see text]

Ovarian Carcinosarcoma and Concurrent Serous Tubal Intraepithelial Carcinoma With Next-Generation Sequencing Suggesting an Origin From the Fallopian Tube

2019 ◽  
Vol 27 (5) ◽  
pp. 574-579 ◽  
Author(s):  
Sharlene Helene C. See ◽  
Amir Behdad ◽  
Kruti P. Maniar ◽  
Luis Z. Blanco
Keyword(s):  
Next Generation Sequencing ◽  
Fallopian Tube ◽  
Tp53 Gene ◽  
Serous Carcinoma ◽  
High Grade ◽  
Next Generation ◽  
Serous Tubal Intraepithelial Carcinoma ◽  
Divergent Differentiation ◽  
Intraepithelial Carcinoma ◽  
Generation Sequencing

Background. Ovarian carcinosarcomas are rare aggressive biphasic tumors. Evidence suggests that these tumors are monoclonal and that the sarcoma component is derived from a stem cell undergoing divergent differentiation. Currently, there remains a paucity of data regarding its origin, with few reports suggesting an association with serous tubal intraepithelial carcinoma (STIC) by immunohistochemistry and genetics. Objective. We sought to determine the relationship of carcinosarcoma to high-grade serous carcinoma and STIC by investigating for similar mutation signatures through next-generation sequencing. Methodology. A case of carcinosarcoma with associated high-grade serous carcinoma and STIC was macrodissected, and next-generation sequencing was performed on each component separately. Results. The STIC, high-grade serous carcinoma component, and chondrosarcoma component were all diffusely positive for p53 and p16 by immunohistochemistry. Next-generation sequencing demonstrated an identical TP53 gene c.376-1G>A 5’ splice site pathogenic mutation in all 3 components. Conclusions. Our findings suggest that carcinosarcomas may also originate from the fallopian tube.

scholarly journals PIK3CA somatic alterations in invasive breast cancers: different spectrum from Caucasians to Chinese detected by next generation sequencing

Breast Cancer ◽  
2021 ◽  
Author(s):  
Minghan Jia ◽  
Ning Liao ◽  
Bo Chen ◽  
Guochun Zhang ◽  
Yulei Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Specific Inhibitor ◽  
The Cancer Genome Atlas ◽  
Chinese Patients ◽  
Proliferation Index ◽  
Molecular Profile ◽  
Common Mutation ◽  
Next Generation ◽  
Molecular Features ◽  
Generation Sequencing

Abstract Purpose Somatic alteration of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is a crucial therapeutic target in breast cancer (BC) and PI3Kα-specific inhibitor Alpelisib has been used in clinics. This study investigates the PIK3CA alterations in Chinese and Caucasians BC patients for the purpose of selecting anti-PI3K therapy. Methods The molecular profile of the PIK3CA gene was analyzed in 412 Chinese patients with untreated invasive BC using a 540 gene next-generation sequencing panel. The results were compared with data of the Caucasian BC patients in The Cancer Genome Atlas (TCGA-white). Results PIK3CA alterations were frequently found in BC of estrogen receptor (ER) positive (49.3%, p = 0.024), low ki67 proliferation index (58.3%, p = 0.007) and low pathological grade (grade I/II/III 80%, 53.4%, 35.9%, p < 0.001). Compared to TCGA-white, Chinese BC patients had a higher alteration frequency (45.6% vs. 34.7%, p < 0.001) with larger proportion of p.H1047R mutation among three common mutation sites (p.E545K, p.E542K and p.H1047R) (66.1% vs. 43.7%, p = 0.01). Across four molecular subtypes, ER + /human epidermal growth factor receptor 2 positive (HER2 +) tumors harbored the most PIK3CA alterations (51.6%), while ER-/HER2- harbored the least alteration (30.0%) but the most copy number amplification (19.05%). Conclusion PIK3CA alterations prevail in Chinese BC patients and have different molecular features compared to that of Caucasians. The results provide precise annotations of PIK3CA genomic alterations of Chinese in the context of application of PIK3CA inhibitor.

scholarly journals Molecular Profile of Advanced Thyroid Carcinomas by Next-Generation Sequencing: Characterizing Tumors Beyond Diagnosis for Targeted Therapy

2018 ◽  
Vol 17 (7) ◽  
pp. 1575-1584 ◽  
Author(s):  
Hui Chen ◽  
Rajyalakshmi Luthra ◽  
Mark J. Routbort ◽  
Keyur P. Patel ◽  
Maria E. Cabanillas ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Next Generation Sequencing ◽  
Molecular Profile ◽  
Next Generation ◽  
Thyroid Carcinomas ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

BMC Cancer ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Bharanidharan Devarajan ◽  
Logambiga Prakash ◽  
Thirumalai Raj Kannan ◽  
Aloysius A Abraham ◽  
Usha Kim ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Rb1 Gene ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Next-Generation Sequencing

2012 ◽  
Vol 42 (9) ◽  
pp. 8
Author(s):  
PETER HULICK
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Generation Sequencing
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