Abstract
Acute myeloid leukemia (AML) is a heterogeneous disease with a wide variety of clinical presentations, morphological features, and immunophenotypes. The diagnostic approaches to AML that are adopted in Italy have been explored using an online Delphi-based process to expand the global discussion on mandatory tests for the correct diagnosis and, consequently, for optimal management of AML in clinical practice. The final results of the panel of Italian hematologists involved in this work highlight the importance of genetic evaluation for classification and risk stratification and firmly establish that karyotyping, fluorescence in situ hybridization in cases with non-evaluable karyotype, and molecular tests must be performed in every case of AML, regardless of age. Obtaining clinically relevant genetic data at diagnosis is the basis for the success of patient-tailored therapy. The Italian specialists also confirm the role of multidisciplinary diagnostics for AML, now mandatory and expected to become more important in the future context of “precision” medicine.
Highlights
Acute myeloid leukemia (AML) is an uncontrolled clonal proliferation derived from progenitor/ precursor hematopoietic cells
The aim of the questions in the first topic of the Delphi questionnaire was to investigate the specialists’ attitude in applying the World Health Organization (WHO) diagnostic criteria in clinical practice, focusing on which tests they would consider crucial for the correct identification of AML subtypes (Table 1)
The diagnostic workup of AML resulting from this Delphi project is the product of an integrated approach, primarily based on international guidelines, including patient history, and morphological, immunophenotyping, and cytogenetics/ molecular findings
Summary
Acute myeloid leukemia (AML) is an uncontrolled clonal proliferation derived from progenitor/ precursor hematopoietic cells. From a genetic point of view, the definition of AML includes heterogeneous entities, with a wide variety of clinical presentations, morphological features, immunophenotypes. Genetic abnormalities, including chromosomal abnormalities and mutations in proliferation/ survival mechanisms (FLT3) and differentiation/apoptosis pathways (CEBPA, RUNX1, and NPM1), play a pathogenetic role in AML, provide prognostic criteria, and can guide therapy [3,4,5]. Relevant progress has been made in understanding the pathogenesis of the disease and in the development of diagnostic tools and novel therapies [6]. The most recent World Health Organization (WHO) classification, published in 2016, compared with that published in 2008 [7], included new AML entities with different cytogenetic and molecular
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