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
Technopath Clinical Diagnostics - An LGC Company

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.

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

Gold Supplier
ESR Analyzer
miniiSED™
New
TSI Stimulating Assay
Thyretain TSI Stimulating Reporter BioAssay
New
POC Pathogen Detection & Gene Expression System
Sal6830 Mobile Workstation
New
Allergen-Specific IgG/IgG4 Enzymimmunoassay
ALLERgen Specific IgG/IgG4 ELISA Kits

Print article
IIR Middle East

Channels

Molecular Diagnostics

view channel
Image: Metabolomic profiling reveals risk of multiple diseases all at once (Photo courtesy of BIH)

Single Blood Test Predicts Risk of Multiple Diseases Simultaneously Using AI

Prevention is better than cure. To prevent diseases from occurring in the first place, it is important to identify those individuals who are at particularly high risk as early as possible.... Read more

Technology

view channel
Image: OneDraw Blood Collection Device significantly reduces obstacles for drawing blood (Photo courtesy of Drawbridge Health)

Near Pain-Free Blood Collection Technology Enables High-Quality Testing

Blood tests help doctors diagnose diseases and conditions such as cancer, diabetes, anemia, and coronary heart disease, as well as evaluate organ functionality. They can also be used to identify disease... Read more

Industry

view channel
Image: The MC-80 digital cell morphology analyzer can screen and diagnose malignant and non-malignant blood diseases (Photo courtesy of Mindray)

Mindray Showcases Hematology Innovations at ISLH 2022

Mindray (Shenzhen, China) showcased its hematology innovations and academic achievements to medical experts from Europe and around the world at the International Symposium on Technological Innovations... Read more
Copyright © 2000-2022 Globetech Media. All rights reserved.