Associated Genetic Biomarkers

Overview

NCI Definition: A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) [1]

Myelodysplastic syndromess most frequently harbor alterations in ASXL1, ETV6, TET2, CDKN2A, and TP53 [2].

Most Commonly Altered Genes in Myelodysplastic Syndromes

ASXL1 Mutation, ETV6 Mutation, ETV6 Frameshift, ETV6 E21Gfs*60, and ASXL1 Frameshift are the most common alterations in myelodysplastic syndromes [2].

Top Alterations in Myelodysplastic Syndromes

Biomarker-Directed Therapies

Significant Genes in Myelodysplastic Syndromes

ABL1 +

ABL2 +

AFF1 +

AKT1 +

AKT2 +

AKT3 +

ASXL1 +

ATM +

BCOR +

BCR +

BIRC3 +

CBFA2T3 +

CBFB +

CBL +

CEBPA +

CREBBP +

CRKL +

CRLF2 +

CSF1R +

DEK +

DNMT3A +

EGFR +

ELL +

EPOR +

ERBB2 +

ERG +

ETV6 +

EZH2 +

FGFR3 +

FLT3 +

FUS +

GLIS2 +

HIP1 +

HOXA9 +

HRAS +

IDH1 +

IDH2 +

IGH +

IKZF1 +

IL7R +

IRS2 +

JAK1 +

JAK2 +

JAK3 +

KAT6A +

KDM5A +

KIT +

KMT2A +

KRAS +

MAF +

MAFB +

MECOM +

MET +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MNX1 +

MTOR +

MYC +

MYH11 +

NF1 +

NPM1 +

NRAS +

NSD1 +

NUP214 +

NUP98 +

PBX1 +

PDGFRA +

PDGFRB +

PDS5B +

PHF6 +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PML +

PRDM16 +

PTEN +

PTPN11 +

RAD21 +

RARA +

RICTOR +

RIT1 +

RNF43 +

RPN1 +

RPTOR +

RUNX1 +

RUNX1T1 +

SETBP1 +

SF3B1 +

SH2B3 +

SMC1A +

SMC3 +

SRSF2 +

STAG2 +

TCF3 +

TET2 +

TP53 +

TRA +

TRB +

TRD +

TRG +

TSC1 +

TSC2 +

U2AF1 +

WHSC1 +

WT1 +

ZRSR2 +

Disease Details

Synonyms
Hematopoeitic - Myelodysplastic Syndrome (MDS), Myelodysplastic Syndrome/Neoplasm, Potential myelodysplastic syndrome (MDS), Smoldering Leukemia, Myelodysplasia, myelodysplastic syndromes, Myelodysplastic Neoplasm, Myelodysplastic syndrome, NOS, Oligoblastic Leukemia, MDS, Preleukemia, Myelodysplastic Syndrome, Dysmyelopoietic Syndrome
Parent(s)
Myeloid Neoplasm
Children
Refractory Anemia with Excess Blasts, Myelodysplastic Syndrome, Unclassifiable, Refractory anemia with ring sideroblasts, Refractory Cytopenia with Multilineage Dysplasia, Refractory Cytopenia with Unilineage Dysplasia, Myelodysplastic Syndrome with Isolated del(5q), Secondary Myelodysplastic Syndrome, and Refractory Cytopenia of Childhood
OncoTree Name
Myelodysplastic Syndromes
OncoTree Code
MDS

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 6. 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.