PPM - Cytogenetic Analysis of Newly Diagnosed Acute Leukemia (AML, A-ALL, P-ALL)-Description and References

Description and References

Pdf Summary

This module titled "PPM - Cytogenetic Analysis of Newly Diagnosed Acute Leukemia (AML, A-ALL, P-ALL)" (Version November 2025) provides updated recommendations for cytogenomic laboratory evaluation of patients newly diagnosed with acute leukemia subtypes: acute myeloid leukemia (AML), adult acute lymphoblastic leukemia (A-ALL), and pediatric acute lymphoblastic leukemia (P-ALL). Laboratory directors are requested to review 10 consecutive cases reported in the past two years and respond to specific questions about the diagnostic workup. The objective is to enhance familiarity and adherence to current evidence-based guidelines.<br /><br />Cytogenetic testing methods referenced include G-banded metaphase chromosome analysis, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and optical genome mapping (OGM). These techniques provide critical diagnostic, prognostic, and subtype classification information, which can influence treatment decisions, including targeted therapies.<br /><br />The module aims to advance implementation of the "Initial Diagnostic Workup of Acute Leukemia" guideline published by the College of American Pathologists (CAP) and American Society of Hematology (ASH), as well as the latest ACMG technical standards for cytogenomic studies of acquired chromosomal abnormalities in hematologic malignancies.<br /><br />Key learning objectives focus on applying updated practice guidelines to improve diagnosis and treatment outcomes for acute leukemia patients.<br /><br />The accompanying literature includes:<br />- The CAP/ASH guideline (Arber et al., 2017) outlining standardized diagnostic approaches.<br />- The ACMG Laboratory Quality Assurance Committee’s recent standards (Akkari et al., 2024) detailing technical and quality requirements for cytogenomic testing in neoplastic blood and marrow samples.<br /><br />Overall, the module fosters adherence to advanced cytogenetic workup protocols to support precision medicine in acute leukemia management.

Keywords

Acute Myeloid Leukemia

Acute Lymphoblastic Leukemia

Cytogenetic Analysis

G-banded Metaphase Chromosome Analysis

Fluorescence In Situ Hybridization

Chromosomal Microarray Analysis

Optical Genome Mapping

Diagnostic Workup

CAP/ASH Guidelines

ACMG Technical Standards