Entry

H02410                      Disease

Name

Myelodysplastic/myeloproliferative neoplasms

Subgroup

Chronic myelomonocytic leukemia (CMML) [DS:H02411]
Juvenile myelomonocytic leukemia (JMML)
MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T)
Atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) [DS:H02412]
MDS/MPN-unclassifiable (MDS/MPN-u)

Description

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). This group includes chronic myelomonocytic leukemia (CMML), its pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic, and transcription gene mutations.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
Cancers of haematopoietic and lymphoid tissues
H02410 Myelodysplastic/myeloproliferative neoplasms

Related
pathway

hsa03040

Spliceosome

Gene

DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]

Drug

Imatinib mesylate [DR:D01441]

Other DBs

MeSH:

D054437

Reference

PMID:28771058

Authors

Thota S, Gerds AT

Title

Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.

Journal

Leuk Lymphoma 59:803-812 (2018)
DOI:10.1080/10428194.2017.1357179

Reference

PMID:19996113

Authors

Reiter A, Invernizzi R, Cross NC, Cazzola M

Title

Molecular basis of myelodysplastic/myeloproliferative neoplasms.

Journal

Haematologica 94:1634-8 (2009)
DOI:10.3324/haematol.2009.014001

Reference

PMID:30555034

Authors

Smith BN, Savona M, Komrokji RS

Title

Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).

Journal

Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
DOI:10.1016/j.clml.2018.11.019

Reference

PMID:28642604

Authors

Deininger MWN, Tyner JW, Solary E

Title

Turning the tide in myelodysplastic/myeloproliferative neoplasms.

Journal

Nat Rev Cancer 17:425-440 (2017)
DOI:10.1038/nrc.2017.40

Reference

PMID:25212680

Authors

Zoi K, Cross NC

Title

Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.

Journal

Int J Hematol 101:229-42 (2015)
DOI:10.1007/s12185-014-1670-3

DISEASE: Myelodysplastic/myeloproliferative neoplasms