scholarly journals Census-based, whole-exome sequencing of circulating tumor cells (CTCs)

2014 ◽  
Vol 7 (20) ◽  
pp. 595-595
Keyword(s):  
Exome Sequencing ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
S. Manier ◽  
J. Park ◽  
M. Capelletti ◽  
M. Bustoros ◽  
S. S. Freeman ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Exome Sequencing ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Whole Exome Sequencing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Whole Exome

Whole-exome sequencing of single circulating tumor cells is a useful tool for studying the intrapatient genetic heterogeneity in metastatic prostate cancer.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 148-148 ◽  
Author(s):  
Vincent Faugeroux ◽  
Celine Lefebvre ◽  
Emma Pailler ◽  
Valerie Pierron ◽  
Fanny Billiot ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Single Cell ◽  
Exome Sequencing ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Whole Exome Sequencing ◽  
Genetic Heterogeneity ◽  
Castration Resistant Prostate Cancer ◽  
Illumina Hiseq ◽  
Whole Exome

148 Background: Molecular characterization of metastatic castration resistant prostate cancer (mCRPC) is limited by tumor tissue availability. The analysis of circulating tumor cells (CTC) offers an attractive noninvasive surrogate option to analyze molecular alterations. We report whole exome sequencing (WES) of CTCs at the single cell level in mCRPC patients. Methods: Blood samples were drawn from 11 enzalutamide or abiraterone pre-treated mCRPC patients enrolled in the clinical program MOSCATO (NCT02613962). CTC enrichment, immunofluorescent detection and single cell isolation were performed using three methods (ISET filtration, CellSearch and the VyCap puncher system and RosetteSep enrichment) to obtain pools of 1-10 CTCs with distinct epithelial or mesenchymal phenotypes. After Whole Genome Amplification (WGA), WES was performed on the Illumina HiSeq 2000 platform. GATK Haplotype Caller enabled identification of germline polymorphisms from each patient in normal DNA, metastatic sample and CTCs in order to consider WGA induced bias. The detection of sSNV in tumor biopsies and CTCs was assessed with Mutect and IndelGenotyper respectively. Results: 189 WGA of CTC pools were performed. 34 pools of phenotypically different CTCs from 7 patients were selected and sequenced. Mean coverage of 51% was obtained at a sequencing depth of 10X. Allelic drop out was lower for CTC pools containing 5-10 cells. 17/34 (50%) CTC samples had shared sSNV with the paired tumor sample (range 0.35%-68%) Epithelial CTCs had more shared sSNV with metastatic biopsies than CTCs of other phenotypes but shared sSNV were also detected in large non epithelial CTC pointing out a high level of genetic heterogeneity between CTC. Overall, 89 deleterious protein-coding mutations were found only in pools of CTC, including mutations affecting oncogenic drivers such as MAPK1, HSP90AB1 or KDM5B. Conclusions: We present single cell WES of CTCs harboring distinct phenotypes. The detection of shared sSNV between CTC pools and corresponding biopsy could validate the use of CTCs as a liquid biopsy. The finding of sSNV specific to CTCs could offer additional data on tumor heterogeneity.

scholarly journals Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer

2014 ◽  
Vol 32 (5) ◽  
pp. 479-484 ◽  
Author(s):  
Jens G Lohr ◽  
Viktor A Adalsteinsson ◽  
Kristian Cibulskis ◽  
Atish D Choudhury ◽  
Mara Rosenberg ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Exome Sequencing ◽  
Tumor Cells ◽  
Circulating Tumor Cells ◽  
Whole Exome Sequencing ◽  
Metastatic Prostate Cancer ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing Reveals New Potential Mutations Genes for Primary Mucosa-Associated Lymphoid Tissue Lymphoma Arising From the Kidney

2021 ◽  
Vol 10 ◽  
Author(s):  
Shuang Wen ◽  
Tianqing Liu ◽  
Hongshuo Zhang ◽  
Xu Zhou ◽  
Huidan Jin ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Tumor Cells ◽  
Whole Exome Sequencing ◽  
Lymphoid Tissue ◽  
Clinical Investigation ◽  
Driver Mutations ◽  
Low Grade ◽  
Driver Genes ◽  
Molecular Features ◽  
Whole Exome

Low-grade B cell lymphomas of mucosa-associated lymphoid tissue (MALT) lymphomas involving the kidney were extremely rare, genetic alteration or molecular features was not yet explored, which may lead to limited choices for postoperative adjuvant or targeted. Whole-exome sequencing based tumor mutation profiling was performed on the tumor sample from a 77-year-old female presenting with discomfort at the waist was pathologically diagnosed as MALT lymphomas in the right kidney. We identified 101 somatic SNVs, and the majority of the identified SNVs were located in CDS and intronic regions. A total of 190 gain counts of CNVs with a total size of 488,744,073 was also investigated. After filtering with the CGC database, seven predisposing genes (ARID4A, COL2A1, FANCL, ABL2, HSP90AB1, FANCA, and DIS3) were found in renal MALT specimen. Furthermore, we compared somatic variation with known driver genes and validated three mutational driver genes including ACSL3, PHOX2B, and ADCY1. Sanger sequencing of germline DNA revealed the presence of a mutant base T of PHOX2B and a mutant base C of ADCY1 in the sequence, which were discovered for the first time in MALT lymphomas involving the kidney. Moreover, immunohistochemical analysis revealed that tumor cells were positive for CD20, CD79a, PAX5, CD21, and CD23, and expression of CD3, CD5, and CD8 were observed in reactive T lymphocytes surrounding tumor cells. These findings illustrated that concurrent aberrant PHOX2B and ADCY1 signaling may be a catastrophic event resulting in disease progression and inhibition of the putative driver mutations may be alternative adjuvant therapy for MALT lymphoma in the kidney which warrants further clinical investigation.

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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