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 hp
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Chronic Lymphocytic Leukemia Genomic Study Reveals New Subtypes

By LabMedica International staff writers
Posted on 08 Aug 2022
Print article
Image: Blood smear of a patients with chronic lymphocytic leukemia. A large lymphocyte (arrow) has a notched nucleus and demonstrates the variable appearance of some of the lymphocytes in CLL (Photo courtesy of Professor Peter G. Maslak, MD)
Image: Blood smear of a patients with chronic lymphocytic leukemia. A large lymphocyte (arrow) has a notched nucleus and demonstrates the variable appearance of some of the lymphocytes in CLL (Photo courtesy of Professor Peter G. Maslak, MD)

Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the blood and bone marrow. It affects the white blood cells called lymphocytes. It tends to develop very slowly. It is more common in older people and is rare in people younger than 40.

Many people with CLL are asymptomatic and are diagnosed because they have a routine blood test for something else. In CLL symptoms tend to be mild at first and get worse slowly. Many symptoms are vague Recent advances in cancer characterization have consistently revealed marked heterogeneity, impeding the completion of integrated molecular and clinical maps for each malignancy.

An international team of medical scientists, led by those at the Massachusetts General Cancer Center (Boston, MA, USA), have characterized the somatic mutation, gene expression, and epigenetic changes that occur within and across CLL subtypes, uncovering alterations with potential prognostic impact. CLL is a B cell neoplasm with variable natural history that is conventionally categorized into two subtypes distinguished by extent of somatic mutations in the heavy-chain variable region of immunoglobulin genes (IGHV).

The team assessed mutation, structural variant, gene expression, and regulatory features in pre-treatment, post-treatment, or treatment refractory/relapsed tumor samples from 1,148 individuals with CLL or monoclonal B cell lymphocytosis. Nearly 1,100 of the samples were subjected to exome or whole-genome sequencing, while 712 were assessed with RNA sequencing, and DNA methylation profiling was done on 999 samples.

The investigator’s results highlighted 202 suspected driver genes, impacted by recurrent alterations ranging from single nucleotide changes or small insertions or deletions to structural variants and DNA methylation shifts that appeared to drive CLL, including 109 suspected driver mutations not linked to the blood and bone marrow malignancy in the past. The scientists identified copy number mutations or structural variants that distinguished CLL subtypes with or without mutations in the immunoglobulin gene heavy-chain variable region (IGHV) through an analysis of 512 mutated IGHV (M-CLL) and 459 IGHV-unmutated CLL tumors.

The team noted that specific driver gene changes within IGHV subtypes appeared to correspond to clinical outcomes in CLL, as did drivers found through mutation, structural variant, gene expression, or methylation analyses, though combining the different data streams appeared to offer the most complete view of the disease. The investigators are making the new CLL omics data available to other scientists, along with corresponding clinical data, in an effort to unearth still other insights that may improve the understanding, management, or treatment of CLL.

Catherine Wu, MD, a professor of medicine and co-senior and co-corresponding author, said, “Such a CLL map could eventually be leveraged in the clinic, wherein the genomic features of new patients can be compared with the treatments and outcomes of patients with similar genetic profiles. This profiling could potentially help more accurately tailor prognosis and treatment of a new patient based on their particular molecular features, getting closer to precision medicine.” The study was published on August 4, 2022 in the journal Nature Genetics.

Related Links:
Massachusetts General Cancer Center 

Gold Member
Flocked Fiber Swabs
Puritan® Patented HydraFlock®
Automated Blood Typing System
IH-500 NEXT
New
Silver Member
Rubella Infection ELISA
ReQuest RUBELLA IgM ELISA Kit
New
Cortisol Rapid Test
Finecare Cortisol Rapid Quantitative Test

Print article

Channels

Clinical Chemistry

view channel
Image: The new saliva-based test for heart failure measures two biomarkers in about 15 minutes (Photo courtesy of Trey Pittman)

POC Saliva Testing Device Predicts Heart Failure in 15 Minutes

Heart failure is a serious condition where the heart muscle is unable to pump sufficient oxygen-rich blood throughout the body. It ranks as a major cause of death globally and is particularly fatal for... Read more

Hematology

view channel
Image: The smartphone technology measures blood hemoglobin levels from a digital photo of the inner eyelid (Photo courtesy of Purdue University)

First-Of-Its-Kind Smartphone Technology Noninvasively Measures Blood Hemoglobin Levels at POC

Blood hemoglobin tests are among the most frequently conducted blood tests, as hemoglobin levels can provide vital insights into various health conditions. However, traditional tests are often underutilized... Read more

Immunology

view channel
Image: Under a microscope, DNA repair is visible as bright green spots (“foci”) in the blue-stained cell DNA. Orange highlights actively growing cancer cells (Photo courtesy of WEHI)

Simple Blood Test Could Detect Drug Resistance in Ovarian Cancer Patients

Every year, hundreds of thousands of women across the world are diagnosed with ovarian and breast cancer. PARP inhibitors (PARPi) therapy has been a major advancement in treating these cancers, particularly... Read more

Microbiology

view channel
Image: HNL Dimer can be a novel and potentially useful clinical tool in antibiotic stewardship in sepsis (Photo courtesy of Shutterstock)

Unique Blood Biomarker Shown to Effectively Monitor Sepsis Treatment

Sepsis remains a growing problem across the world, linked to high rates of mortality and morbidity. Timely and accurate diagnosis, along with effective supportive therapy, is essential in reducing sepsis-related... Read more

Pathology

view channel
Image: The artificial intelligence models can personalize immune therapies in oncology patients (Photo courtesy of 123RF)

AI Tool Identifies Novel Genetic Signatures to Personalize Cancer Therapies

Lung cancer and bladder cancer are among the most commonly diagnosed cancers globally. Researchers have now developed artificial intelligence (AI) models designed to personalize immune therapies for oncology... Read more

Technology

view channel
Image: Schematic diagram of nanomaterial-based anti-epileptic drug concentration diagnostic technology (Photo courtesy of KRISS)

Nanomaterial-Based Diagnostic Technology Accurately Monitors Drug Therapy in Epilepsy Patients

Many patients with epilepsy take anti-epileptic drugs to control frequent seizures in their daily lives. To optimize treatment and avoid side effects from overdosing, it is crucial for patients to regularly... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.