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
LGC Clinical Diagnostics

Download Mobile App




Tumor Sequencing Finds Mutations Caused by Blood Disorder

By LabMedica International staff writers
Posted on 15 Jan 2019
Print article
Image: Bone marrow biopsy from a patient with polycythemia vera showing a hypercellular marrow as a result of an increase of myeloid, erythroid and megakaryocytic elements (Photo courtesy of Karl Theil MD).
Image: Bone marrow biopsy from a patient with polycythemia vera showing a hypercellular marrow as a result of an increase of myeloid, erythroid and megakaryocytic elements (Photo courtesy of Karl Theil MD).
Clinical sequencing assays aim to identify somatic mutations in cancer cells for accurate diagnosis and treatment. However, most clinical-grade implementations lack patient-matched germline DNA, and supplemental analyses are needed to infer the mutational status of variants.

A new analysis suggests that a subset of patients with solid tumors may also suffer from blood conditions that introduce additional mutations into tumor sequencing data via infiltrating hematopoietic cells, particularly when matched germline sequencing data are not available.

Scientists at Rutgers University (New Brunswick, NJ, USA) studied clinical sequencing data for 2,030 individuals with solid tumors who were tested between late 2012 and last fall. In the process, they narrowed in on eight patients initially suspected of carrying myeloproliferative neoplasm (MPN)-associated JAK2 mutations in their solid tumors.

The team found that the allele frequencies for these activating JAK2-V617F mutations did not line up with tumor purity estimates. They used a combination of clinical records and sequencing data from targeted gene panels of tumor samples from three of the JAK2 mutation-positive patients, the investigators determined that at least four of the individuals with JAK2-V617F mutations had both cancer and MPNs such as polycythemia vera, essential thrombocythemia, and myelofibrosis.

In two of the patients with newly sequenced samples, for example, the team saw enhanced frequencies for the JAK2-V617F allele in samples with greater lymphocyte white blood cell content compared with samples containing higher tumor tissue levels. Likewise, the available targeted sequence data turned up additional clonal hematopoiesis of indeterminate potential-related mutations in genes such as U2AF1, TET2, or DNMT3A in JAK2-V617F-positive cases, again enriched in lymphocyte-enriched portions of patient samples relative to the tumor tissue on hand.

The authors concluded that when MPN-associated mutations are observed in solid tumor sequencing data, caution is necessary for proper patient treatment, and a hematologic workup should be considered in the appropriate clinical context. Their analysis suggests that although both of these results are possible, detection of JAK2-V617F may instead be associated with a coexistent MPN. The study was published on January 3, 2018, in the journal JAMA Oncology.

Related Links:
Rutgers University

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
Specimen Collection & Transport
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
Gold Member
Xylazine Immunoassay Test
Xylazine ELISA

Print article

Channels

Clinical Chemistry

view channel
Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)

POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection

Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more

Hematology

view channel
Image: The Gazelle Hb Variant Test (Photo courtesy of Hemex Health)

First Affordable and Rapid Test for Beta Thalassemia Demonstrates 99% Diagnostic Accuracy

Hemoglobin disorders rank as some of the most prevalent monogenic diseases globally. Among various hemoglobin disorders, beta thalassemia, a hereditary blood disorder, affects about 1.5% of the world's... Read more

Microbiology

view channel
Image: The new platform is designed to perform blood-based diagnoses of nontuberculosis mycobacteria (Photo courtesy of 123RF)

New Blood Test Cuts Diagnosis Time for Nontuberculous Mycobacteria Infections from Months to Hours

Breathing in nontuberculous mycobacteria (NTM) is a common experience for many people. These bacteria are present in water systems, soil, and dust all over the world and usually don't cause any problems.... Read more

Industry

view channel
Image: These new assays are being developed for use on the recently introduced DxI 9000 Immunoassay Analyzer (Photo courtesy of Beckman Coulter)

Beckman Coulter and Fujirebio Expand Partnership on Neurodegenerative Disease Diagnostics

Beckman Coulter Diagnostics (Brea, CA, USA) and Fujirebio Diagnostics (Tokyo, Japan) have expanded their partnership focused on the development, manufacturing and clinical adoption of neurodegenerative... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.