Molecular map reveals insights into genetic drivers of chronic lymphocytic leukemia

blood cancer

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A newly created map of the landscape of genetic changes in chronic lymphocytic leukemia (CLL), a type of blood and bone marrow cancer that exists in a variety of forms and arises from different causes, provides a better understanding of this complex malignancy that could lead to more accurate patient diagnoses and improved New diagnoses and treatments. The work was published in natural genetics It was conducted by an international collaboration of investigators, including teams from the Comprehensive Cancer Center, the Dana-Farber Cancer Institute, the Broad Institute of MIT and Harvard University.

CLL is present either slowly or rapidly growing cancer It has been linked together genetic mutations, but not yet fully described. Previous analyzes provided only parts of a CLL ‘map’, each focusing on specific types of patients or on limited data. To provide a more comprehensive understanding of the biological underpinnings of CLL and molecular subtypesNow, the scientists set out to create a map from the largest CLL dataset to date.

To build the CLL map, the team analyzed differences in genetic sequences, gene expression patterns, and chemical alterations of DNA—or genomic, transcriptome, and epigenetic data—from 1,148 patients. “This CLL map could eventually be leveraged in the clinic, where the genetic features of new patients can be compared with treatments and outcomes for patients with similar genetic profiles,” says co-author and co-author Catherine Wu, MD, chair of stem cell transplantation and therapies. Cellular at Dana-Farber Cancer Institute and Professor of Medicine at Harvard Medical School. “This more accurate profiling could help tailor the diagnosis and treatment of a new patient based on their particular molecular features, and move closer to precision medicine.”

The scientists identified 202 genes (109 of which were new) that when mutated can lead to CLL, and they refined the characterization of CLL subtypes with distinct genomic characteristics and speculations. In addition to genetic sequences, expression patterns of specific genes further categorized CLL and provided valuable prognostic information. “Our study revealed that the genetic and biological landscape of CLL is more complex than previously estimated,” says co-author and reporter Judd Getz, PhD, director of bioinformatics at the Comprehensive Cancer Center and director of the Computational Analysis of Cancer Genome Group at the Broad Institute.

Patients’ clinical outcomes were associated with a combination of genomic, transcriptomic, and epigenetic features—so that integrating these data could predict a patient’s likelihood of experiencing remission versus developing more advanced cancer.

We are releasing a CLL Map ‘Gate’ based on CLL Map and it will be interactive or active site for multilingual researchers to use as a resource for further investigation — such as learning more about the different drivers and subtypes of CLL, says Getz.

The study was also led by José I. Martin Sobero (IDIBAPS), Xose S. and Stefan Stellgenbauer (University of Ulm) from Germany.


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more information:
Kathryn Wu, Molecular map of chronic lymphocytic leukemia and its effect on outcome, natural genetics (2022). DOI: 10.1038 / s41588-022-01140-w. www.nature.com/articles/s41588-022-01140-w

the quote: Molecular map reveals insights into genetic drivers of chronic lymphocytic leukemia (2022, August 4), retrieved August 4, 2022 from https://medicalxpress.com/news/2022-08-molecular-reveals-insights-genetic-drivers .html

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