Molecular Markers and Risk

Molecular profiling has the ability to identify mutations that correlate to prognostic and predictive significance particularly in patients with a normal-karyotype (NK).1 One of the ways the National Comprehensive Cancer Network (NCCN) confers favorable, intermediate, and poor/adverse risk is based on validated genetic abnormalities.1 As a result, testing for certain molecular genetic lesions, such as NPM1 and biallelic CEBPA, is now becoming an integral part of the initial evaluation to classify acute myeloid leukemia (AML) and, consequently, influences treatment decisions.1

Although it is an evolving field, tests for molecular markers are becoming more readily available in reference laboratories.1 One such test is the quantitative polymerase chain reaction (qPCR). Screening of fusion genes by the qPCR2:

  • Confirms the findings of standard karyotyping
  • Detects or excludes the presence of small fusion gene positive clones in NK AML
  • Helps predict outcomes in cases of failed banding analyses

NCCN 2019 Recommendations for Molecular Testing at Diagnosis1

  • KIT
  • FLT3 (ITD and TKD)
  • NPM1
  • IDH1/IDH2
  • TP53
  • RUNX1
  • ASXL1
  • Other mutations

References: 1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Acute Myeloid Leukemia V.1.2019. © National Comprehensive Cancer Network, Inc. 2019. All rights reserved. Accessed January 29, 2019. To view the most recent and complete version of the guideline, go online to The National Comprehensive Cancer Network makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way. 2. Roug AS, Hansen MC, Nederby L, Hokland P. Diagnosing and following adult patients with acute myeloid leukaemia in the genomic age. Br J Haematol. 2014;167(2):162-176.