Droplet digital polymerase chain reaction assay and peptide nucleic acid-locked nucleic acid clamp method for RHOA mutation detection in angioimmunoblastic T-cell lymphoma

Cancer Science
Sharna Tanzima NuhatShigeru Chiba

Abstract

Angioimmunoblastic T-cell lymphoma (AITL) is a subtype of nodal peripheral T-cell lymphoma (PTCL). Somatic RHOA mutations, most frequently found at the hotspot site c.50G > T, p.Gly17Val (G17V RHOA mutation) are a genetic hallmark of AITL. Detection of the G17V RHOA mutations assists prompt and appropriate diagnosis of AITL. However, an optimal detection method for the G17V RHOA mutation remains to be elucidated. We compared the sensitivity and concordance of next-generation sequencing (NGS), droplet digital PCR (ddPCR) and peptide nucleic acid-locked nucleic acid (PNA-LNA) clamp method for detecting the G17V RHOA mutation. G17V RHOA mutations were identified in 27 of 67 (40.3%) PTCL samples using NGS. ddPCR and PNA-LNA clamp method both detected G17V mutations in 4 samples in addition to those detected with NGS (31 of 67, 46.3%). Additionally, variant allele frequencies with ddPCR and those with NGS showed high concordance (P < .001). Three other RHOA mutations involving the p.Gly17 position (c.[49G > T;50G > T], p.Gly17Leu in PTCL198; c.[50G > T;51A > C], p.Gly17Val in PTCL216; and c.50G > A, p.Gly17Glu in PTCL223) were detected using NGS. These sequence changes could not appropriately be detected using the ddPCR assay and th...Continue Reading

References

Dec 8, 2009·British Journal of Haematology·Laurence de LevalPhilippe Gaulard
Mar 31, 2011·Analytical Chemistry·Rebecca SandersCarole A Foy
Jun 15, 2011·The New England Journal of Medicine·Enrico TiacciBrunangelo Falini
Jan 6, 2012·The New England Journal of Medicine·Lucile CouronnéOlivier A Bernard
May 18, 2012·The New England Journal of Medicine·Hanna L M KoskelaSatu Mustjoki
Jun 1, 2013·Blood·Steven P Treon, Zachary R Hunter
Jan 15, 2014·Nature Genetics·Mamiko Sakata-YanagimotoShigeru Chiba
Dec 3, 2014·The Journal of Molecular Diagnostics : JMD·Marlous HoogstraatMarco J Koudijs
Mar 18, 2015·Experimental and Therapeutic Medicine·B O ZhangCong-Li Cai
Dec 17, 2016·OncoTargets and Therapy·Simona SerratìRosamaria Pinto
Feb 6, 2017·Analytical and Bioanalytical Chemistry·Wei YeJianxin Lyu
Jun 29, 2017·Breast Cancer Research and Treatment·Elena V PreobrazhenskayaAnna P Sokolenko

❮ Previous
Next ❯

Citations

Feb 18, 2020·British Journal of Haematology·Matthew A TimminsMatthew J Ahearne
May 6, 2020·International Journal of Molecular Sciences·Nicoletta CoccaroFrancesco Albano
Feb 29, 2020·Cancer Research·Tran B NguyenShigeru Chiba
Jan 19, 2020·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Naoko OkuraKoichi Takayama

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
PCR

Software Mentioned

Variant Caller
SPSS
QuantaSoft

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.