Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing
Publication date: Available online 20 July 2018Source: Cancer GeneticsAuthor(s): Daja Šekoranja, Emanuela Bostjančič, Vladka Salapura, Blaž Mavčič, Jože PižemAbstractAneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors. With the advent of next-generation sequencing (NGS) technology, several hitherto unknown USP6 fusion partners have been identified in ABC. Accordingly, we present a case of an 18-year-old male with a solid sub-periosteal primary ABC in the diaphysi...
Source: Cancer Genetics - July 20, 2018 Category: Cancer & Oncology Source Type: research
A rare case of Hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8
We describe the clinical, immunophenotypic and cytogenetic analysis in a 24-year-old woman. We present an unusual case of TCRγδ positive T-cell lymphoma with aberrant expression of CD19, which is a B-cell lymphoid marker, with amplification of 7q region and subsequent formation of ring chromosome 7 and trisomy 8. This is the second case of HSTL, positive for CD19 and first case presenting with ring chromosome 7 and trisomy 8 in a CD19 positive HSTL which is a rare finding in T-cell lymphoma and needs to be explored further. (Source: Cancer Genetics)
Source: Cancer Genetics - July 20, 2018 Category: Cancer & Oncology Source Type: research
Clinical utility of emerging liquid biomarkers in advanced prostate cancer
Publication date: Available online 25 August 2017Source: Cancer GeneticsAuthor(s): Gillian Vandekerkhove, Kim N. Chi, Alexander W. WyattThe therapeutic landscape of advanced prostate cancer (PCa) has rapidly expanded in recent years. Despite significant improvements in patient overall survival, it remains challenging to determine the optimal therapy and sequence of therapies for individual patients. The development of molecular biomarkers will be key for patient stratification, and for monitoring response and resistance to therapy. In this context, minimally-invasive blood-based “liquid” biopsies are attractive as a pr...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Analysis of circulating tumor DNA in breast cancer as a diagnostic and prognostic biomarker
Publication date: Available online 24 February 2018Source: Cancer GeneticsAuthor(s): Mersedeh RohanizadeganAbstractDespite all the advances in diagnosis and treatment of breast cancer, a large number of patients suffer from late diagnosis or recurrence of their disease. Current available imaging modalities do not reveal micrometastasis and tumor biopsy is an invasive method to detect early stage or recurrent cancer, signifying the need for an inexpensive, non-invasive diagnostic modality. Cell-free tumor DNA (ctDNA) has been tried for early detection and targeted therapy of breast cancer, but its diagnostic and prognostic ...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Comparison of 4 commercial kits for the extraction of circulating DNA from plasma
We describe the evaluation of 4 commercial DNA purification kits—QIAamp Circulating Nucleic Acids kit, QIAamp DNA Blood Mini kit, QIAamp Ultrasens Virus kit and the QIASymphony DSP Virus kit—for the extraction of high and low molecular weight DNA from blood plasma. Using qPCR to quantitate endogenous Alu sequences, as well as spiked exogenous high and low molecular weight zebrafish DNA, we found that the Circulating Nucleic Acids kit and the DSP kit were both efficient at purifying DNA from plasma regardless of fragment size, whereas the DNA Blood Mini kit was only able to effectively extract high molecular weight DNA....
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Circulating cell-free DNA for non-invasive cancer management
Publication date: Available online 11 March 2018Source: Cancer GeneticsAuthor(s): Caitlin M. Stewart, Dana W.Y. TsuiCell-free DNA (cfDNA) was first identified in human plasma in 1948 and is thought to be released from cells throughout the body into the circulatory system. In cancer, a portion of the cfDNA originates from tumour cells, referred to as circulating-tumour DNA (ctDNA), and can contain mutations corresponding to the patient's tumour, for instance specific TP53 alleles. Profiling of cfDNA has recently become an area of increasing clinical relevance in oncology, in particular due to advances in the sensitivity of ...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Identification of gene-specific DNA methylation signature for Colorectal Cancer
ConclusionsWith the six gene-specific DNA methylation signatures, patients in the training set were divided into low-risk and high- risk groups. What's more, gene-specific DNA methylation target genes were highly associated with protein phosphorylation, which indicated that further research on phosphorylation of target gene-coding protein might provide new sight on the treatment of CC. (Source: Cancer Genetics)
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Corrigendum to “Potential circulating miRNA signature for early detection of NSCLC” [Cancer Genetics 216–217 (2017) 150–158]
Publication date: Available online 15 June 2018Source: Cancer GeneticsAuthor(s): Ayda Arab, Morteza Karimipoor, Shiva Irani, Arda Kiani, Sirous Zeinali, Elham Tafsiri, Kambiz Sheikhy (Source: Cancer Genetics)
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Corrigendum to ``Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition'' [Cancer Genet. 221(2018) 38–45]
Publication date: Available online 29 June 2018Source: Cancer GeneticsAuthor(s): C.B. Ripamonti, S. Manoukian, B. Peissel, J. Azzollini, M.L. Carcangiu, P. Radice (Source: Cancer Genetics)
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Editorial Board
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Non-invasive early detection of malignant pulmonary nodules by FISH-based sputum test
ConclusionsIn a cohort of patients with highly suspicious lung nodules, the LCD test is a non-invasive option with good sensitivity and a high positive predictive value. A positive LCD test reinforces the need to aggressively pursue a definitive diagnosis of suspicious nodules. (Source: Cancer Genetics)
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Clonal neutrophil infiltrates in concurrent Sweet's syndrome and acute myeloid leukemia: A case report and literature review
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): Wenbin Mo, Xiaoxue Wang, Yue Wang, Yan Li, Rui ZhangAbstractSweet's syndrome (SS), also known as acute febrile neutrophilic dermatosis is often associated with a hematological malignancy, especially acute myeloid leukemia (AML) and myeloid dysplasia syndrome. Histopathologically, SS is characterized by diffuse infiltrates in the upper dermis, predominantly consisting of mature neutrophils. The origin of neutrophils invading the skin remains unknown. Herein, we report a patient with concurrent acute monoblastic leukemia and SS who initially p...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Challenges in next generation sequencing analysis of somatic mutations in transplant patients
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): Hui Chen, Rajyalakshmi Luthra, Keyur P Patel, Mark Routbort, Asif Rashid, Sinchita Roy-Chowdhuri, Alexander Lazar, Russell Broaddus, Jawad Manekia, Rajesh R Singh, Anna YemelyanovaAbstractAnalysis of somatic mutations in solid tumors and hematologic malignancies using targeted next generation sequencing (NGS)-based assays has become part of routine oncology practice as well as clinical trials. The use of paired tumor-normal DNA samples increases confidence of somatic calls. NGS assays that utilize unique patient identifiers (SNP IDs) allow f...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
Differentially expressed LncRNAs as potential prognostic biomarkers for glioblastoma
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): Mei Shao, Wenyun Liu, Yu WangAbstractGlioblastoma (GBM) is the most common and aggressive brain tumor with the poor clinical outcome. LncRNAs (Long non-coding RNAs) play an important role in the occurrence and development of glioblastoma. We aimed to explore the role that lncRNAs play in regulating glioblastoma and the pathways they are enriched in. The expression data of a total of 516 GBM samples were downloaded from TCGA (The Cancer Genome Atlas). We identified the differentially expressed lncRNAs between cancer and normal tissues and p...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): LB Baughn, MM Meredith, L Oseth, TA Smolarek, B HirschAbstractAcute lymphoblastic leukemia (ALL) represents the most common childhood malignancy. Although survival for pediatric B-ALL has approached 90%, variability in outcome among and within cytogenetically defined subgroups persists. While G-banding and fluorescence in situ hybridization (FISH) have been used to characterize leukemic clones, there is added value of chromosomal microarray and next generation sequencing in screening genome-wide for copy number aberrations, copy neutral loss...
Source: Cancer Genetics - July 10, 2018 Category: Cancer & Oncology Source Type: research
