Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing.
PMID 34573308 | PMCID PMC8470887 | DOI 10.3390/genes12091326 · Genes · 2021 · View on PubMed ↗
B-lineage acute lymphocytic leukemia (B-ALL) is characterized by different genetic aberrations at a chromosomal and gene level which are very crucial for diagnosis, prognosis and risk assessment of the disease. However, there is still controversial arguments in regard to disease outcomes in specific genetic abnormalities, e.g., 9p-deletion. Moreover, in absence of cytogenetic abnormalities it is difficult to predict B-ALL progression. Here, we use the advantage of Next-generation sequencing (NGS) technology to study the mutation landscape of 12 patients with B-ALL using Comprehensive Cancer Panel (CCP) which covers the most common mutated cancer genes. Our results describe new mutations in CSF3R gene including S661N, S557G, and Q170X which might be associated with disease progression.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CSF3R | “Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | S661N | “Our results describe new mutations in CSF3R gene including S661N, S557G, and Q170X which might be associated with disease progression.” | 0.82 | literature_variant_regex_v2 |
| variant | S557G | “Our results describe new mutations in CSF3R gene including S661N, S557G, and Q170X which might be associated with disease progression.” | 0.82 | literature_variant_regex_v2 |
| variant | Q170X | “Our results describe new mutations in CSF3R gene including S661N, S557G, and Q170X which might be associated with disease progression.” | 0.82 | literature_variant_regex_v2 |