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
PURITAN MEDICAL

Download Mobile App




Inherited Genetic Variants Increase Risk of Hodgkin Lymphoma

By LabMedica International staff writers
Posted on 14 Sep 2022
Print article
Image: Photomicrograph of Hodgkin lymphoma (HL) from a fine needle aspirate of a lymph node. The micrograph shows a mixture of cells common in HL: Eosinophils, Reed-Sternberg cells, Plasma cells, and Histocytes (Photo courtesy of Nephron)
Image: Photomicrograph of Hodgkin lymphoma (HL) from a fine needle aspirate of a lymph node. The micrograph shows a mixture of cells common in HL: Eosinophils, Reed-Sternberg cells, Plasma cells, and Histocytes (Photo courtesy of Nephron)

Hodgkin lymphoma (HL) is a type of lymphoma, in which cancer originates from a specific type of white blood cell called lymphocytes, where multinucleated Reed–Sternberg cells (RS cells) are present in the patient's lymph nodes. Symptoms may include fever, night sweats, and weight loss. Often, nonpainful enlarged lymph nodes occur in the neck, under the arm, or in the groin.

HL must be distinguished from non-cancerous causes of lymph node swelling and from other types of cancer. Definitive diagnosis is by lymph node biopsy. Blood tests are also performed to assess function of major organs and to assess safety for chemotherapy. Familial aggregation of HL has been demonstrated in large population studies, pointing to genetic predisposition to this hematological malignancy.

A large team of hematology and oncology experts collaborating with St. Jude Children's Research Hospital (Memphis, TN, USA) performed whole genome sequencing on 234 individuals with and without HL from 36 pedigrees that had two or more first-degree relatives with HL, one of whom needed to be younger than 21 years of age when diagnosed. The team created pedigrees, a type of diagram that reveals familial connections while tracking the incidences of cancer.

A powerful bioinformatics pipeline created at St. Jude was essential to analyzing and tracking the variants through the family pedigrees. The process included running algorithms to identify the variants in every individual, and then taking the pedigree and tracing the variants back through the family tree to figure out which ones were related to the cancer. More than 40 annotation databases and pieces of software powered the effort, which resulted in a fast, robust pipeline to analyze familial data.

The investigators used tiered variant prioritization algorithm, and identified 44 HL risk variants in 28 pedigrees, of which 33 are coding, 11 are noncoding. The top four recurrent risk variants: a coding variant in KDR (rs56302315), a 5'UTR variant in KLHDC8B (rs387906223), a noncoding variant in an intron of PAX5 (rs147081110), and another noncoding variant in an intron of GATA3 (rs3824666). A newly identified splice variant in KDR (c.3849-2A>C) was observed for one pedigree and high confidence stopgain variants affecting IRF7 (p.W238*) and EEF2KMT (p.K116*) were also observed. Multiple truncating variants in POLR1E were found in three independent pedigrees as well. While KDR and KLHDC8B have previously been reported, PAX5, GATA3, IRF7, EEF2KMT, and POLR1E represented novel observations.

Jun J. Yang, PhD, co-corresponding author of the study, said, “Inherited variants can be an important missing piece of the puzzle when you're trying to understand why certain people are more likely to get a type of cancer. Whole genome sequencing that allows you to look beyond the main genetic variants to the non-coding or epigenetic variants is a powerful tool to help explain what puts a person at a higher risk of developing Hodgkin lymphoma.”

The authors concluded that their analysis revealed inherited variants likely to predispose individuals to the disease in most of the families, highlighting the important role of genetic predisposition in understanding Hodgkin lymphoma. The study was published on August 17, 2022 in the journal Blood.

Related Links:
St. Jude Children's Research Hospital

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
HLX
Anti-Cyclic Citrullinated Peptide Test
GPP-100 Anti-CCP Kit
Gold Member
ADAMTS-13 Protease Activity Test
ATS-13 Activity Assay

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

Molecular Diagnostics

view channel
Image: The study showed the blood-based cancer screening test detects 83% of people with colorectal cancer with specificity of 90% (Photo courtesy of Guardant Health)

Blood Test Shows 83% Accuracy for Detecting Colorectal Cancer

Colorectal cancer is the second biggest cause of cancer deaths among adults in the U.S., with forecasts suggesting 53,010 people might die from it in 2024. While fewer older adults are dying from this... 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.