NCI Definition: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. [1]

Leukemias most frequently harbor alterations in DNMT3A, FLT3, TET2, TP53, and ASXL1 [2].

Most Commonly Altered Genes in Leukemia

DNMT3A Mutation, FLT3 Mutation, NPM1fs, TP53 Mutation, and SRSF2 Mutation are the most common alterations in leukemia [2].

Top Alterations in Leukemia

Significant Genes in Leukemia

ABL1 +

AFF1 +





FLT1 +

FLT3 +

IDH1 +

IDH2 +




NUP214 +

PBX1 +



RPN1 +


TCF3 +

TP53 +

Disease Details

Leukemia, Disease, LEUKEMIA, MALIGNANT, Leukemia NOS, Leukemias, General, Blood (Leukemia), Leukemia, NOS, Leukemias
Hematopoietic and Lymphoid Malignancy
Splenic Manifestation of Leukemia, Chronic Myelomonocytic Leukemia, Acute Leukemia, Monocytic Leukemia, Myeloid Leukemia, T-cell Leukemia, Chronic Leukemia, Central Nervous System Leukemia, Aleukemic Leukemia, Childhood Leukemia, Mast Cell Leukemia, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, and Juvenile Myelomonocytic Leukemia


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 8. 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.