Associated Genetic Biomarkers

Overview

NCI Definition: A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification). [1]

Acute myeloid leukemias most frequently harbor alterations in DNMT3A, NPM1, ASXL1, TET2, and ETV6 [2].

Most Commonly Altered Genes in Acute Myeloid Leukemia

NPM1 Mutation, NPM1 W288Cfs*12, DNMT3A Mutation, ASXL1 Mutation, and TET2 Mutation are the most common alterations in acute myeloid leukemia [2].

Top Alterations in Acute Myeloid Leukemia

Biomarker-Directed Therapies

Significant Genes in Acute Myeloid Leukemia

ABL1 +

ABL2 +

AFF1 +

ASXL1 +

ATM +

BCL2 +

BCL6 +

BCOR +

BCR +

BIRC3 +

CBFA2T3 +

CBFB +

CBL +

CEBPA +

CREBBP +

CRLF2 +

CSF1R +

DEK +

DNMT3A +

ELL +

EPOR +

ERBB2 +

ERG +

ETV6 +

EZH2 +

FGF2 +

FGFR3 +

FLT3 +

FUS +

GLIS2 +

HOXA9 +

HRAS +

IDH1 +

IDH2 +

IGH +

IKZF1 +

IL7R +

JAK1 +

JAK2 +

JAK3 +

KAT6A +

KDM5A +

KIT +

KMT2A +

KRAS +

MDM2 +

MDM4 +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MNX1 +

MYC +

MYH11 +

NF1 +

NPM1 +

NRAS +

NSD1 +

NUMA1 +

NUP214 +

NUP98 +

PBX1 +

PDGFRB +

PML +

PTPN11 +

RARA +

RIT1 +

RPN1 +

RUNX1 +

RUNX1T1 +

SF3B1 +

SH2B3 +

SRSF2 +

STAG2 +

TCF3 +

TET2 +

TP53 +

TRA +

TRB +

TRD +

TRG +

U2AF1 +

WHSC1 +

WT1 +

ZRSR2 +

Disease Details

Synonyms
Acute Nonlymphocytic Leukemia, Acute Myelocytic Leukemia, Acute Myeloblastic Leukemia, Acute Myelogenous Leukemias, AML, Acute Myelogenous Leukemia, ANLL, Acute Megakaryocytic Leukemia, AML - Acute Myeloid Leukemia, Hematopoeitic - Acute Myleogenous Leukemia (AML), Acute Granulocytic Leukemia
Parent(s)
Myeloid Leukemia
Children
Secondary Acute Myeloid Leukemia, Myeloid Leukemia Associated with Down Syndrome, Acute Myeloid Leukemia with Gene Mutations, Acute Myeloid Leukemia with Recurrent Genetic Abnormalities, Myeloid Sarcoma, Acute Myeloid Leukemia with Myelodysplasia-Related Changes, and Acute Myeloid Leukemia Not Otherwise Specified
OncoTree Name
Acute Myeloid Leukemia
OncoTree Code
AML

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.