Associated Genetic Biomarkers

Overview

NCI Definition: A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. [1]

Refractory anemia with excess blastss most frequently harbor alterations in ASXL1, TET2, TP53, SRSF2, and RUNX1 [2].

Most Commonly Altered Genes in Refractory Anemia with Excess Blasts

TP53 Mutation, SRSF2 Mutation, SRSF2 Exon 1 Mutation, TP53 c.217-c.1178 Missense, and TP53 Missense are the most common alterations in refractory anemia with excess blasts [2].

Top Alterations in Refractory Anemia with Excess Blasts

Significant Genes in Refractory Anemia with Excess Blasts

ABL1 +

AFF1 +

ASXL1 +

BCR +

CBFB +

CEBPA +

DEK +

ELL +

FLT3 +

KIT +

KMT2A +

KRAS +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MYH11 +

NPM1 +

NRAS +

NUP214 +

PBX1 +

PML +

PTPN11 +

RARA +

RPN1 +

RUNX1 +

RUNX1T1 +

TCF3 +

TP53 +

Disease Details

Synonyms
MDS-EB, Refractory Anemia with an Excess of Blasts, Myelodysplastic Syndrome with Excess Blasts, RAEB
Parent(s)
Myelodysplastic Syndromes
Children
Myelodysplastic Syndrome with Excess Blasts-2 and Myelodysplastic Syndrome with Excess Blasts-1
OncoTree Name
MDS with Excess Blasts
OncoTree Code
MDSEB

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.