Associated Genetic Biomarkers

Overview

NCI Definition: A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. [1]

Myelodysplastic/myeloproliferative neoplasms most frequently harbor alterations in ASXL1, TET2, SRSF2, RUNX1, and ETV6 [2].

Most Commonly Altered Genes in Myelodysplastic/Myeloproliferative Neoplasm

ASXL1 Mutation, TET2 Mutation, ASXL1 Frameshift, SRSF2 Mutation, and SRSF2 Codon 95 Missense are the most common alterations in myelodysplastic/myeloproliferative neoplasm [2].

Top Alterations in Myelodysplastic/Myeloproliferative Neoplasm

Significant Genes in Myelodysplastic/Myeloproliferative Neoplasm

ABL1 +

AFF1 +

BCR +

CBFB +

DEK +

ELL +

FGFR3 +

FLT3 +

IGH +

KIT +

KMT2A +

MAF +

MECOM +

MLF1 +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MYH11 +

NPM1 +

NUP214 +

PBX1 +

PDGFRA +

PDGFRB +

PML +

RARA +

RPN1 +

RUNX1 +

RUNX1T1 +

TCF3 +

TET2 +

TP53 +

Disease Details

Synonyms
Myelodysplastic/Myeloproliferative Disorder, MPD-MDS, MDS-MPD, Myeloproliferative/Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Disorders, Myelodysplastic/Myeloproliferative Diseases, Myeloproliferative/Myelodysplastic Disorders, MDS/MPD, Myelodysplastic/Myeloproliferative Disease, MDS/MPN, MPD/MDS
Parent(s)
Myeloid Neoplasm
Children
Refractory Anemia with Ringed Sideroblasts associated with marked Thrombocytosis, Juvenile Myelomonocytic Leukemia, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, Chronic Myelomonocytic Leukemia, and Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable
OncoTree Name
Myelodysplastic/Myeloproliferative Neoplasms
OncoTree Code
MDS/MPN

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.