TY  - JOUR
AB  - Structural variants (SV) are changes in the genomic landscape that can alter gene expression levels and thus lead to disease development. The most common and best studied SVs in hematological malignancies are chromosomal translocations. Here, parts of two genes that are normally on different chromosomes come into close proximity due to a failure in DNA repair. As a consequence, fusion proteins which show a different function and/or cellular localization compared to the two original proteins are expressed, sometimes even at different levels. The identification of chromosomal translocations is often used to identify the specific disease a patient is suffering from. In addition, SVs such as deletions, duplications, inversions and single nucleotide polymorphisms (SNPs) can occur in hematopoietic cells and lead to their malignant transformations. Changes in the 3D genome structure have also recently been shown to impact disease development. In this review, we describe a variety of SVs occurring in different subtypes of hematological malignancies. Currently, most therapeutic approaches target fusion proteins which are the cellular product of chromosomal translocations. However, amplifications and SNPs also play a role in disease progression and can be targeted. We present some examples for different types of structural variants and how they are currently treated.
AU  - Schütte, Judith
AU  - Reusch, Julia
AU  - Khandanpour, Cyrus
AU  - Eisfeld, Christine
DA  - 2019-08-28
DO  - 10.3389/fonc.2019.00839
KW  - structural variant (SV)
KW  - hematology
KW  - targeted therapy
KW  - chromosomal rearrangements
KW  - chromatin structure
LA  - eng
N1  - Frontiers in Oncology 9 (2019) 839, 1-7
N1  - Finanziert durch den Open-Access-Publikationsfonds der Westfälischen Wilhelms-Universität Münster (WWU Münster)
PY  - 2019-08-28
TI  - Structural Variants as a Basis for Targeted Therapies in Hematological Malignancies
UR  - https://nbn-resolving.org/urn:nbn:de:hbz:6-59029480356
Y2  - 2024-11-22T05:34:22
ER  -