Associated Genetic Biomarkers

Overview

NCI Definition: A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) [1]

Myelodysplastic syndrome with excess blasts-2s most frequently harbor alterations in SRSF2, ASXL1, DNMT3A, TP53, and TET2 [2].

Most Commonly Altered Genes in Myelodysplastic Syndrome with Excess Blasts-2

SRSF2 Mutation, SRSF2 Exon 1 Mutation, DNMT3A Mutation, TP53 Mutation, and SRSF2 Codon 95 Missense are the most common alterations in myelodysplastic syndrome with excess blasts-2 [2].

Top Alterations in Myelodysplastic Syndrome with Excess Blasts-2

Significant Genes in Myelodysplastic Syndrome with Excess Blasts-2

ABL1 +

AFF1 +

ASXL1 +

BCR +

CBFB +

CBL +

CSF3R +

DEK +

ELL +

EZH2 +

FBXW7 +

FGFR1 +

FLT3 +

GATA1 +

GATA2 +

HRAS +

IDH1 +

IDH2 +

IKZF1 +

JAK2 +

KIT +

KMT2A +

KRAS +

MAP2K1 +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MPL +

MYD88 +

MYH11 +

NOTCH1 +

NPM1 +

NRAS +

NUP214 +

PBX1 +

PDGFRA +

PHF6 +

PML +

PTEN +

RARA +

RB1 +

RPN1 +

RUNX1 +

RUNX1T1 +

SF3B1 +

SRSF2 +

STAG2 +

STAT3 +

TCF3 +

TP53 +

U2AF1 +

WT1 +

ZRSR2 +

Disease Details

Synonyms
MDS with Excess Blasts-2, MDS-EB-2, Refractory Anemia with Excess Blasts-2, RAEB-II, RAEB-2
Parent(s)
Refractory Anemia with Excess Blasts
OncoTree Name
MDS with Excess Blasts-2
OncoTree Code
MDSEB2

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.