Features | Partner Sites | Information | LinkXpress
Sign In

Molecular Test Detects Difficult-to-Diagnose Chronic Blood Cancer

By Labmedica International staff writers
Posted on 26 Dec 2013
Image: Bone marrow aspirate smear from a patient with chronic myelomonocytic leukemia, a myeloproliferative neoplasm (Photo courtesy of M.Yared).
Image: Bone marrow aspirate smear from a patient with chronic myelomonocytic leukemia, a myeloproliferative neoplasm (Photo courtesy of M.Yared).
The current blood test used to diagnose blood cancer works by identifying mutation in a specific gene; however, it is not necessary that the gene should be present in every patient.

The Janus kinase 2 gene (JAK2) occurs in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge.

A collaborating team of scientists from the University of Cambridge (UK) and the Wellcome Trust Sanger Institute (Hinxton, UK) and other institutes performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1,345 hematologic cancers, 1,517 other cancers, and 550 controls. They established phylogenetic trees using hematopoietic colonies and assessed calreticulin subcellular localization using immunofluorescence and flow cytometry.

The team analyzed the results of exome sequencing of DNA from granulocytes and constitutional DNA obtained from purified T cells or buccal cells in 168 patients with myeloproliferative neoplasms. The identification of appropriate constitutional DNA samples is a challenge among patients with myeloproliferative neoplasms, since circulating T cells and buccal cells may be contaminated by neoplastic cells. On sequencing the patients' DNA, the scientists identified a new gene called CALR, the mutations of which were associated with chronic blood cancer. They also noticed a rise in platelet counts and a decline in hemoglobin levels associated with JAK2 mutation.

The authors concluded that detection of CALR mutations in peripheral blood could potentially be used as a diagnostic tool in the same way that tests for JAK2 mutations have simplified and improved the accuracy of diagnosis of patients with myeloproliferative neoplasms worldwide. Peter J. Campbell, MB, ChB, PhD, from the Sanger Institute, who co-led the research, said, “There is now a sense of completeness with these disorders , the vast majority of our patients can now have a definitive genetic diagnosis made. In the next year or two, we will see these genetic technologies increasingly used in the diagnosis of all cancers, especially blood cancers.” The study was published on December 10, 2013, in the New England Journal of Medicine.

Related Links:

University of Cambridge
Wellcome Trust Sanger Institute 


Genetic Tests

view channel
Image: The QuantiTect Reverse Transcription Kit (Photo courtesy of Qiagen)

Blood Tests Predict Risk of Sudden Cardiac Death

A simple blood test can predict a person's risk for sudden cardiac death, enabling physicians to quickly and accurately assess a patient's need for an implantable cardiac defibrillator (ICD).... Read more


view channel

Gene Profile Predicts Risk of Bladder Cancer Recurrence

A genomic study has pinpointed several markers that identify bladder cancer patients at risk of recurrence and that may be indicators of overall survival status. Nearly half of patients with bladder cancer experience recurrences, so reliable predictors of this recurrent phenotype are needed to guide surveillance and treatment.... Read more

Industry News

view channel

Beckman Coulter and hc1.com Enter Strategic Partnership for Innovative Healthcare Cloud System

The diagnostics division of Beckman Coulter (Brea, CA, USA) and hc1.com (Indianapolis, IN, USA) have announced a partnership to bring an innovative healthcare cloud-technology system to clinical laboratories. The system, hc1.com's "Healthcare Relationship Cloud," helps turn large amounts of clinical data into actionable... Read more
Copyright © 2000-2014 Globetech Media. All rights reserved.