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 TET2, ASXL1, TP53, DNMT3A, and SF3B1 [2].

Most Commonly Altered Genes in Myelodysplastic Syndromes

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, SF3B1 Mutation, and ASXL1fs 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 +

ARAF +

ASXL1 +

ATM +

BCOR +

BCR +

BIRC3 +

BRAF +

CBFA2T3 +

CBFB +

CBL +

CREBBP +

CRKL +

CRLF2 +

DEK +

DNMT3A +

ELL +

EPOR +

ETV6 +

EZH2 +

FGFR1 +

FGFR2 +

FGFR3 +

FGFR4 +

FLT3 +

GLIS2 +

HIP1 +

HOXA9 +

HRAS +

IDH1 +

IDH2 +

IGH +

IKZF1 +

IL7R +

JAK1 +

JAK2 +

JAK3 +

KAT6A +

KDM5A +

KIT +

KMT2A +

KRAS +

LYN +

MAF +

MAFB +

MAP2K1 +

MAP2K2 +

MAP2K4 +

MAP3K1 +

MAPK1 +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MNX1 +

MTOR +

MYC +

MYH11 +

NF1 +

NPM1 +

NRAS +

NRIP3 +

NSD1 +

NTRK1 +

NTRK2 +

NTRK3 +

NUP214 +

NUP98 +

PBX1 +

PDGFRA +

PDGFRB +

PDS5B +

PHF6 +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PML +

PRDM16 +

PTEN +

PTPN11 +

RAD21 +

RAF1 +

RARA +

RICTOR +

RIT1 +

RPN1 +

RPTOR +

RUNX1 +

RUNX1T1 +

SETBP1 +

SF3B1 +

SH2B3 +

SMC1A +

SMC3 +

SRC +

SRSF2 +

STAG2 +

TCF3 +

TET2 +

TP53 +

TRA +

TRB +

TRD +

TRG +

TSC1 +

TSC2 +

TYK2 +

U2AF1 +

WHSC1 +

WT1 +

ZRSR1 +

ZRSR2 +

Disease Details

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