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@article{1813393,
author = {Tauš, Petr and Pospíšilová, Šárka and Plevová, Karla},
article_location = {Laussane},
article_number = {JUN},
doi = {http://dx.doi.org/10.3389/fgene.2021.627964},
keywords = {chronic lymphocytic leukemia; pathway mutation score; ensemble clustering; extreme gradient boosting; mutation subtypes},
language = {eng},
issn = {1664-8021},
journal = {Frontiers in Genetics},
title = {Identification of Clinically Relevant Subgroups of Chronic Lymphocytic Leukemia Through Discovery of Abnormal Molecular Pathways},
url = {https://www.frontiersin.org/articles/10.3389/fgene.2021.627964/full},
volume = {12},
year = {2021}
}
TY - JOUR
ID - 1813393
AU - Tauš, Petr - Pospíšilová, Šárka - Plevová, Karla
PY - 2021
TI - Identification of Clinically Relevant Subgroups of Chronic Lymphocytic Leukemia Through Discovery of Abnormal Molecular Pathways
JF - Frontiers in Genetics
VL - 12
IS - JUN
SP - 627964
EP - 627964
PB - FRONTIERS MEDIA SA
SN - 16648021
KW - chronic lymphocytic leukemia
KW - pathway mutation score
KW - ensemble clustering
KW - extreme gradient boosting
KW - mutation subtypes
UR - https://www.frontiersin.org/articles/10.3389/fgene.2021.627964/full
N2 - Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the Western world with a highly variable clinical course. Its striking genetic heterogeneity is not yet fully understood. Although the CLL genetic landscape has been well-described, patient stratification based on mutation profiles remains elusive mainly due to the heterogeneity of data. Here we attempted to decrease the heterogeneity of somatic mutation data by mapping mutated genes in the respective biological processes. From the sequencing data gathered by the International Cancer Genome Consortium for 506 CLL patients, we generated pathway mutation scores, applied ensemble clustering on them, and extracted abnormal molecular pathways with a machine learning approach. We identified four clusters differing in pathway mutational profiles and time to first treatment. Interestingly, common CLL drivers such as ATM or TP53 were associated with particular subtypes, while others like NOTCH1 or SF3B1 were not. This study provides an important step in understanding mutational patterns in CLL.
ER -
TAUŠ, Petr, Šárka POSPÍŠILOVÁ and Karla PLEVOVÁ. Identification of Clinically Relevant Subgroups of Chronic Lymphocytic Leukemia Through Discovery of Abnormal Molecular Pathways. \textit{Frontiers in Genetics}. Laussane: FRONTIERS MEDIA SA, 2021, vol.~12, JUN, p.~627964-627973. ISSN~1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2021.627964.
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