Molecular findings in myeloid neoplasms.
Tho B TranAlexa J SiddonPublished in: International journal of laboratory hematology (2023)
The proliferation of new molecular technologies in recent years has greatly advanced our knowledge of the genetics that underlie hematologic cancers. Particularly, with the advent and wide-implementation of next-generation sequencing (NGS), a host of somatic (and some germline) gene mutations have been identified as significant in the classification, prognostication, and treatment of the spectrum of myeloid neoplasms. These driver and disease modifier mutations now play a prominent role in the updated international diagnostic guidelines of acute myeloid leukemia (AML), myelodysplastic syndromes/neoplasms (MDS), and myeloproliferative neoplasms (MPN). As high-throughput technologies such as NGS increasingly become standard in the genetic evaluation of myeloid disorders, it is critical that clinicians understand the clinical relevance of these mutations in order to further personalize patient care. In this review we discuss some of the most essential somatic and cytogenetic findings.
Keyphrases
- acute myeloid leukemia
- copy number
- high throughput
- allogeneic hematopoietic stem cell transplantation
- healthcare
- dendritic cells
- bone marrow
- machine learning
- primary care
- signaling pathway
- palliative care
- dna repair
- deep learning
- single cell
- gene expression
- genome wide
- young adults
- dna methylation
- immune response
- acute lymphoblastic leukemia
- oxidative stress
- cell free