BIOTECHNOLOGY
Here, the use of WES provided key insights into the background genetics of samples with MPN and in doing so, identified potential biomarkers of interest (mutated SRSF2 and TET2) in samples that may show higher risk factors in progressing to BP.
References
1. Clark MJ, Chen R, Lam HY, et al. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011;29(10):908-914.
2. Meggendorfer M, Walter W, Nadarjah N, et al. Exome sequencing of paried MPN and blast phase shows an accumulation of splicing and chromatin modifying gene mutations, clonal evolution and gain of RAS pathway mutations during progression. Presented at: European Hemtaology Association 2020.
3. Mannelli F. Acute Myeloid Leukemia Evolving from Myeloproliferative Neoplasms: Many Sides of a Challenging Disease. J Clin Med. 2021;10(3).
Relative frequency of detect variants in the two types of samples in genes
identify CNVs of whole chromosomes and chromosome arms. By comparing the two timepoints, Meggendorfer showed that the majority of samples gained cytogenetic aberrations during disease progression with complex karyotype and loss of chromosome 7 being the most frequent ones. In the MPN-BP timepoint, more than 10 samples were identified to have an aberrant/complex
karyotype (≥3 chromosomal abnormalities). Tis is important because a complex karyotype has shown to be associated with poor prognosis and adverse risk stratification in AML[5]
.
by Meggendorfer and her team at the MLL[6,7]
of NGS in genetic profiling research.
Tis work, and other research conducted , clearly demonstrates the utility
Courtney Thomas, PhD, is with Integrated DNA Technologies.
www.idtdna.com
4. Pasca S, Chifotides HT, Verstovsek S, et al. Mutational landscape of blast phase myeloproliferative neoplasms (MPN-BP) and antecedent MPN. Int Rev Cell Mol Biol. 2022;366:83-124.
5. Mrozek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev. 2004;18(2):115-136.
6. Haferlach T, Hutter S, Meggendorfer M. Genome Sequencing in Myeloid Cancers. N Engl J Med. 2021;384(25):e106.
7. Huber S, Haferlach T, Muller H, et al. MDS subclassification-do we still have to count blasts? Leukemia. 2023.
RESEARCHERS ARE NIPPING ALLERGIES IN THE BUD R
esearchers at Uppsala University in Sweden have been deploying Integra
Biosciences’ Pipetboy pro pipette controllers with integrated LED lighting to help study the physiological function of mast cells and their role in allergic reactions. Their ultimate aim is to develop novel vaccines and therapies to prevent and treat common allergies. The incidence
of atopic allergies – such as hay fever and asthma
– has dramatically increased in the past 50 years, with up to 30% of people in some western countries experiencing severe symptoms requiring medical intervention. Mast cells have been found to induce strong inflammatory reactions in response to
immunoglobulin E, prompting a team at the university’s department of Cell and Molecular Biology to research the part they play in triggering the allergic response.
Dr Srinivas Akula, postdoctoral
researcher in the department, said: “We use Pipetboy pro pipette controllers for purifying and culturing mast cells. They are vital tools for all of our multiple workflows. We have used them for over a decade now and we’re extremely happy with their performance and reliability. They continually dispense highly accurate volumes, which is very important for robust and reliable experiments.” Srinivas concluded: “We would like to
extend our portfolio of Integra products in the future with the Evolve multichannel manual pipettes and Eco Rack GripTip pipette tips. This would further speed up our workflow and increase our capacity for mast cell culture, taking us even closer to an effective treatment for the potentially debilitating allergies suffered by millions worldwide.”
For more information visit
www.integra-biosciences.com
www.scientistlive.com 43
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