Present in approximately two-thirds of AML cases, mutations leading to aberrant activation and proliferation of cellular signaling pathways, frequently referred to as type 1 mutations, make up the most common mutational subset in AML.

Nowadays, many different mutations and epigenetic aberrations have been implicated in the diagnostic, prognostic and treatment of AML. This review is focused on describing the most important molecular markers with implications for clinical practice.

Jun 9, 2016 · Combining driver mutations in 111 cancer genes with cytogenetic and clinical data, we defined AML genomic subgroups and their relevance to clinical outcomes. We identified 5234 driver mutations...

Apr 27, 2024 · Acute myeloid leukemia (AML) is a rapidly progressing myeloid neoplasm characterized by the clonal expansion of immature myeloid-derived cells, known as blasts, in the peripheral blood and bone marrow.

Mutations in the NPM1 gene are among the most common genetic changes in AML (occurring in 25–35% of patients), especially in CN-AML (present in 45–64%) [15]. NPM1 plays a role in numerous cellular functions, including ribosome biogenesis, …

Acute myeloid leukemia (AML) develops as the consequence of a series of genetic changes in a hematopoietic precursor cell. These changes alter normal hematopoietic growth and differentiation, resulting in an accumulation of large numbers of abnormal, immature myeloid cells in the bone marrow and peripheral blood.

Purpose of review: The mutational landscape of acute myeloid leukemia (AML) has revised diagnostic, prognostic, and therapeutic schemata over the past decade. Recurrently mutated AML genes have functional consequences beyond typical oncogene-driven growth and loss of tumor suppresser function.

Mar 22, 2025 · Mutations in FLT3, including internal tandem duplications (FLT3-ITD) and tyrosine kinase domain (FLT3-TKD) mutations are commonly seen in AML patients, with FLT3-ITD being one of the most significant prognostic markers. 17 These mutations are linked to poor survival outcomes due to high drug resistance. To tackle this, there have been several ...

Mar 11, 2024 · Acute myeloid leukemia (AML) has a poor prognosis and a heterogeneous mutation landscape. Although common mutations are well-studied, little research has characterized how the sequence of...

Mar 17, 2025 · In 2010, an international expert panel on behalf of the European LeukemiaNet (ELN) introduced recommendations for the diagnosis and management of acute myeloid leukemia (AML) in adults, including a risk stratification based on cytogenetic aberrations and selected gene mutations (ie, mutations in CEBPA, FLT3, and NPM1). 1 Due to advances in the discovery of the genomic landscape of the disease ...