We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
Octopus Group

Illumina

Illumina develops, manufactures and markets integrated systems for the analysis of genetic variations and biological ... read more Featured Products: More products

Download Mobile App




Events

ATTENTION: Due to the COVID-19 PANDEMIC, many events are being rescheduled for a later date, converted into virtual venues, or altogether cancelled. Please check with the event organizer or website prior to planning for any forthcoming event.

Tumor Biopsies Analysis Performed on Newly-diagnosed B-cell Neoplasms

By LabMedica International staff writers
Posted on 22 Nov 2022
Print article
Image: TruSight Lymphoma 40 uses expert-defined content and proven next-generation sequencing (NGS) technology to identify somatic variants associated with lymphomas (Photo courtesy of Illumina)
Image: TruSight Lymphoma 40 uses expert-defined content and proven next-generation sequencing (NGS) technology to identify somatic variants associated with lymphomas (Photo courtesy of Illumina)

Comprehensive genomic analyses of tumor biopsies from patients with newly-diagnosed germinal center B cell (GCB) diffuse large B cell/high grade B cell lymphoma (DLBCL/HGBL) have identified molecular subtypes predictive of inferior survival, which are characterized by somatic mutations that can be detected through clinical laboratory mutation analysis (CLMA).

Comprehensive genomic analyses have revealed that tumors from approximately 50% of newly-diagnosed GCB DLBCL/HGBL patients can be assigned to a poor-risk subgroup (Cluster 3, EZB) which is associated with inferior survival following receipt of first line chemotherapy (R-CHOP). Additionally, 10%–25% of tumors from newly-diagnosed GCB DLBCL/HGBL patients demonstrate poor-risk gene expression profiles which assign them to a subgroup which is also associated with inferior survival following receipt of first line R-CHOP.

Clinical Scientists at the University of Pennsylvania (Philadelphia, PA, USA) performed CLMA on 59 tumor biopsies (48 formalin-fixed paraffin-embedded tissue, 11 bone marrow aspirate or biopsy, two body fluid) obtained from 2015 to 2021, with 58 successful assays (98% success rate) and a median result turnaround time (TAT) of 16 days. Five biopsies were excluded due to documented request by treating clinician or diagnosing pathologist for purposes of medical decision making and two additional biopsies were excluded due to lack of clinical follow-up, resulting in analysis of 51 biopsies from 51 patients, for which Lymphoma Sequencing Panel (LSP, Lymphoma 40 Kit, Illumina, San Diego, CA, USA) was performed on 32 and PennSeq Lymphoma Panel (PSLP) on 19.

For all 51 biopsies analyzed, there were a total of 87 mutations characterized as 56 missense, 17 frameshift, 11 nonsense and three splice site, and 35 biopsies harbored a mutation of a gene of interest with 32 biopsies a mutation of a gene of interest with gain or loss of function predicted. In total, there were 74 occurrences of mutations of genes of interest (counting duplicate mutations in the same gene in the same biopsy only once), with 60 predicted to result in gain or loss of gene function. For CREBBP, 21 mutations were characterized as 10 missense, six frameshift, four nonsense and one splice site with loss of function predicted to result in 15/16 biopsies.

For TP53, 18 mutations were characterized as 16 missense, one frameshift and one nonsense with loss of function predicted to result in 15/16 biopsies. For EZH2, 12 mutations were characterized as 11 missense and one frameshift with gain of function predicted to result in 11/12 biopsies. For TNFRSF14, 11 mutations were characterized as two missense, five frameshift, three nonsense, one splice site with loss of function predicted to result in 8/11 biopsies. For other genes of interest (GNA13, BCL2, DDX3X, MYC and PTEN), 24 mutations were characterized as 17 missense, four frameshift, two nonsense and one splice site with gain or loss of function predicted in 11/19 biopsies.

The authors concluded that CLMA performed on tumor biopsies from patients with newly-diagnosed GCB DLBCL/HGBL revealed frequent mutations in CREBBP which were predicted to result in loss of function as well as a significantly lower rate of estimated disease free survival at two years. The study was published on November 17, 2022 in the journal Oncotarget.

Related Links:
University of Pennsylvania
Illumina 

New
Gold Supplier
Cerebral Spinal Fluid Control
Multichem CSF
New
Dengue IgG Test
Chorus Dengue IgG
New
Thyroid Stimulating Hormone Test
TSH Rapid Test
New
Semi-Auto Rotary Microtome
M-240

Print article

Channels

Clinical Chem.

view channel
Image: Brief schematic diagram of the detection principle and method (Photo courtesy of CAS)

Rapid, Non-Invasive Method Diagnoses Type 2 Diabetes by Sniffing Urinary Acetone

Over 90% of diabetes cases are attributed to Type 2 diabetes (T2D), a prevalent metabolic condition that is expected to impact 380 million individuals globally by 2025. Despite being highly accurate, the... Read more

Immunology

view channel
Image: A genetic test could guide the use of cancer chemotherapy (Photo courtesy of Pexels)

Genetic Test Predicts Whether Bowel Cancer Patients Can Benefit From Chemotherapy

Late-stage bowel cancer patients usually undergo a series of chemotherapies and targeted medicines for cancer treatment. However, the responses to the last-line chemotherapy treatment trifluridine/tipiracil... Read more

Microbiology

view channel
Image: Use of DBS samples can break barriers in hepatitis C diagnosis and treatment for populations at risk (Photo courtesy of Pexels)

DBS-Based Assay Effective in Hepatitis C Diagnosis and Treatment for At Risk Populations

In a bid to eliminate viral hepatitis as a public health threat by 2030, the World Health Organization (WHO) has put forth a proposed strategy. To this end, researchers at the Germans Trias i Pujol Research... Read more

Pathology

view channel
Image: New research has opened a path for fast and accurate cancer diagnosis (Photo courtesy of Imagene)

AI-Based Image Analysis Software Profiles Cancer Biomarkers in Real Time

Lung cancer is the most widespread type of cancer worldwide, resulting in approximately 1.76 million fatalities annually. Non-small cell lung cancer (NSCLC) accounts for 85% of all lung cancer diagnoses... Read more

Technology

view channel
Image: Live view of non-fluorescent specimens using the glowscope frame (Photo courtesy of Winona State University)

Device Converts Smartphone into Fluorescence Microscope for Just USD 50

Fluorescence microscopes are utilized to examine specimens labeled with fluorescent stains or expressing fluorescent proteins, like those tagged with green fluorescent protein. However, since these microscopes... Read more

Industry

view channel
Image: The global antimicrobial resistance diagnostics market size is expected to reach USD 5.7 billion by 2028 (Photo courtesy of Pexels)

Global Antimicrobial Resistance Diagnostics Market Driven by Increasing Hospital-Acquired Infections

Antimicrobial drugs are intended to counteract the harmful effects of microbes and promote a healthy life. However, their excessive use can result in the development of resistance, commonly referred to... Read more
Copyright © 2000-2023 Globetech Media. All rights reserved.