Publications by authors named "Helen J Marr"
Precision medicine can significantly improve outcomes for patients with cancer, but implementation requires comprehensive characterization of tumor cells to identify therapeutically exploitable vulnerabilities. Here, we describe somatic biallelic TET2 mutations in an elderly patient with acute myeloid leukemia (AML) that was chemoresistant to anthracycline and cytarabine but acutely sensitive to 5'-azacitidine (5'-Aza) hypomethylating monotherapy, resulting in long-term morphological remission. Given the role of TET2 as a regulator of genomic methylation, we hypothesized that mutant TET2 allele dosage affects response to 5'-Aza.
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- Acute myeloid leukemia (AML) is a type of blood cancer with unclear genetic risk factors, and this study explores its hereditary aspects through a meta-analysis.
- Researchers analyzed data from four studies involving 4,018 AML patients and 10,488 controls, finding significant genetic risk loci at two locations: 11q13.2 related to KMT5B and 6p21.32 related to HLA.
- The study enhances understanding of AML development and highlights the roles of genes linked to histone methylation and immune response.
Article Synopsis
- The ATR protein kinase helps cancer cells survive by responding to problems in DNA replication, which is often seen in cancers like acute myeloid leukemia (AML).
- Researchers found that using ATR inhibitors together with drugs like hydroxyurea and gemcitabine greatly increased the effectiveness of treatment by disrupting ribonucleotide reductase (RNR) and slowing down replication fork progress.
- In a mouse model of leukemia, combining the ATR inhibitor VX-970 with gemcitabine completely eliminated the disease and led to long-term survival, suggesting this combination could be a promising approach for treating AML and similar blood cancers.