Associated Genetic Biomarkers

Overview

NCI Definition: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. [1]

Chronic myeloid leukemias most frequently harbor alterations in ETV6, CDKN2A, ASXL1, ABL1, and DNMT3A [2].

Most Commonly Altered Genes in Chronic Myeloid Leukemia

ETV6 Mutation, ETV6 Frameshift, ETV6 E21Gfs*60, CDKN2A Mutation, and ASXL1 Mutation are the most common alterations in chronic myeloid leukemia [2].

Top Alterations in Chronic Myeloid Leukemia

Biomarker-Directed Therapies

Significant Genes in Chronic Myeloid Leukemia

ABL1 +

ABL2 +

AFF1 +

ATM +

BCR +

BIRC3 +

CBFA2T3 +

CBFB +

CREBBP +

CRLF2 +

CSF1R +

DEK +

DNMT3A +

ELL +

EPOR +

ETV6 +

FGFR3 +

FLT3 +

GLIS2 +

HOXA9 +

HRAS +

IDH1 +

IGH +

IKZF1 +

IL7R +

JAK1 +

JAK2 +

JAK3 +

KAT6A +

KDM5A +

KIT +

KMT2A +

KRAS +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MNX1 +

MYH11 +

NPM1 +

NRAS +

NSD1 +

NUP214 +

NUP98 +

PBX1 +

PDGFRB +

RPN1 +

RUNX1 +

RUNX1T1 +

SF3B1 +

SH2B3 +

TCF3 +

TET2 +

TP53 +

WHSC1 +

WT1 +

Disease Details

Synonyms
Hematopoeitic - Chronic Myelocytic Leukemia (CML), Chronic Myelogenous Leukemia, BCR-ABL Positive Chronic Myelogenous Leukemia, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelogenous Leukemias, Chronic Myelocytic Leukemia, Chronic Granulocytic Leukemia, CML, CML - Chronic Myelogenous Leukemia
Parent(s)
Myeloproliferative Neoplasm
OncoTree Name
Chronic Myelogenous Leukemia
OncoTree Code
CML

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.