Details of Disease

Disease Name

Childhood myelodysplastic syndrome

myelodysplastic syndrome; childhood myelodysplastic syndrome; childhood MDS

Definition

An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.

Disease Hierarchy

DIS2NCLN: Myeloproliferative syndrome

DISMN80I: Childhood myelodysplastic syndrome

Disease Identifiers

MONDO ID

MONDO_0044873

UMLS CUI

C2347761

MedGen ID

389541

SNOMED CT ID

705061009

General Information of Disease (ID: DISMN80I)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Aldesleukin	DM4YMIS	Approved	NA	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 35 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABAT	TTT2LD9	Limited	Posttranslational Modification	[2]
AURKB	TT9RTBL	Limited	Altered Expression	[3]
CD34	TTZAVYN	Limited	Biomarker	[4]
CLEC12A	TT70N8V	Limited	Biomarker	[5]
CRBN	TTDKGTC	Limited	Biomarker	[6]
GOT1	TTU507L	Limited	Genetic Variation	[7]
IL3RA	TTENHJ0	Limited	Biomarker	[8]
IRF1	TT4TU3L	Limited	Altered Expression	[9]
KITLG	TTDJ51N	Limited	Altered Expression	[10]
MPL	TTIHYA4	Limited	Genetic Variation	[11]
NPM1	TTHBS98	Limited	Genetic Variation	[12]
RUNX1	TTWIN3H	Limited	Genetic Variation	[13]
SF3B1	TTL2WUI	Limited	Genetic Variation	[14]
TIE1	TTT4236	Limited	Biomarker	[15]
SCT	TTOBVIN	Disputed	Biomarker	[16]
CSF1R	TT7MRDV	moderate	Biomarker	[17]
ABL1	TT6B75U	Strong	Biomarker	[18]
CASP5	TTWR48J	Strong	Genetic Variation	[19]
CCR7	TT2GIDQ	Strong	Altered Expression	[20]
CD55	TT5Z9WY	Strong	Biomarker	[21]
CEBPA	TT5LWG1	Strong	Genetic Variation	[22]
CSF3R	TTC70AJ	Strong	Genetic Variation	[23]
CSNK1A1	TTFQEMX	Strong	Genetic Variation	[24]
FECH	TTQ6VF4	Strong	Genetic Variation	[25]
GLIPR1	TTEQF1O	Strong	Altered Expression	[26]
HBA2	TTQO71U	Strong	Genetic Variation	[27]
KMT2A	TT1GNDM	Strong	Genetic Variation	[28]
MVD	TTE5J6X	Strong	Biomarker	[29]
NOP2	TTBLG3H	Strong	Biomarker	[30]
PLCB1	TTLPGU7	Strong	Biomarker	[31]
SCN4A	TT84DRB	Strong	Biomarker	[32]
SLC29A1	TTLXAKE	Strong	Altered Expression	[33]
SPAG6	TTDAKTW	Strong	Biomarker	[32]
TEC	TT1ZV49	Strong	Genetic Variation	[34]
CD6	TTMF6KC	Definitive	Genetic Variation	[35]
------------------------------------------------------------------------------------


⏷ Show the Full List of 35 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A37	DTLBGTZ	Strong	Genetic Variation	[36]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Biomarker	[37]
TPMT	DEFQ8VO	Strong	Genetic Variation	[38]
------------------------------------------------------------------------------------

This Disease Is Related to 81 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACSL5	OT3L9XO3	Limited	Genetic Variation	[39]
ACSL6	OT0TT8P8	Limited	Genetic Variation	[39]
BCL2L10	OTYXQJ3I	Limited	Genetic Variation	[40]
DDX41	OT6KEIHP	Limited	Genetic Variation	[41]
ETV6	OTCZMG61	Limited	Biomarker	[35]
GATA2	OTBP2QQ2	Limited	Genetic Variation	[42]
MNDA	OTCTKR47	Limited	Biomarker	[43]
NUP98	OTNT12G2	Limited	Altered Expression	[44]
PCM1	OTFM133C	Limited	Biomarker	[45]
PDCD6	OT2YA5M8	Limited	Genetic Variation	[46]
SLU7	OTZUUICN	Limited	Genetic Variation	[47]
TET2	OTKKT03T	Limited	Genetic Variation	[48]
BCOR	OTG013AX	Disputed	Genetic Variation	[49]
CHST9	OT1DEZRM	Disputed	Biomarker	[50]
DERL1	OTJUS74N	Disputed	Genetic Variation	[51]
FANCB	OTMZTXB5	Disputed	Genetic Variation	[22]
HOXA9	OTKNK5H0	Disputed	Genetic Variation	[52]
IL3	OT0CQ35N	Disputed	Altered Expression	[53]
CDKN2B	OTAG24N1	moderate	Biomarker	[54]
GATA1	OTX1R7O1	moderate	Biomarker	[22]
GFI1	OT9HB9H8	moderate	Genetic Variation	[22]
GP9	OTA19OKO	moderate	Biomarker	[55]
HOXD13	OTWSC8TF	moderate	Biomarker	[56]
RPS14	OTB90KV5	moderate	Genetic Variation	[57]
SRSF2	OTVDHO6U	moderate	Genetic Variation	[58]
AGFG2	OTXQZHCR	Strong	Genetic Variation	[59]
ANKRD26	OT2ENKKV	Strong	Genetic Variation	[60]
ANKRD28	OTRBREQ9	Strong	Biomarker	[61]
AP5M1	OTDLWEBL	Strong	Biomarker	[62]
ASXL1	OTX931AW	Strong	Biomarker	[63]
ATG3	OT28VBVK	Strong	Altered Expression	[64]
ATRX	OT77RSQW	Strong	Genetic Variation	[65]
BCR	OTCN76C1	Strong	Biomarker	[66]
BRCC3	OTK0ZN7Y	Strong	Genetic Variation	[67]
CHGB	OT7SAQT2	Strong	Biomarker	[68]
CIB2	OT9ZJX1I	Strong	Genetic Variation	[69]
CNTNAP1	OT5Y03EU	Strong	Genetic Variation	[70]
COLEC10	OTMBADGZ	Strong	Altered Expression	[71]
CTC1	OTRJY7QD	Strong	Genetic Variation	[72]
CTNNA1	OTFC725Z	Strong	Posttranslational Modification	[73]
DDX10	OTH48438	Strong	Altered Expression	[74]
DLX4	OTLWVCN4	Strong	Posttranslational Modification	[75]
DROSHA	OTCE68KZ	Strong	Biomarker	[76]
EBF1	OTZ61YYH	Strong	Biomarker	[77]
ERFE	OTSES1HA	Strong	Genetic Variation	[78]
EVPL	OTZIAFEK	Strong	Biomarker	[79]
FBXL5	OT93D50X	Strong	Altered Expression	[80]
FRYL	OTBN3XHN	Strong	Altered Expression	[81]
GFI1B	OTRDW8YO	Strong	Biomarker	[82]
GPR68	OT1NXSMN	Strong	Altered Expression	[83]
HBA1	OTW2BQF4	Strong	Genetic Variation	[27]
ID4	OTPMJ39I	Strong	Posttranslational Modification	[84]
ITGA2B	OT4Y17PY	Strong	Biomarker	[85]
LYL1	OTCNOV1M	Strong	Altered Expression	[86]
MAML2	OT1TSVAR	Strong	Biomarker	[87]
MECOM	OTP983W8	Strong	Altered Expression	[20]
MEIS1	OTH9DKAD	Strong	Altered Expression	[81]
MLF1	OTC5BKHU	Strong	Genetic Variation	[88]
MLLT11	OTG5RVHC	Strong	Altered Expression	[89]
MYOM2	OTD2UOXW	Strong	Biomarker	[90]
NME4	OT2JTT42	Strong	Altered Expression	[91]
NSD3	OT3677ZG	Strong	Genetic Variation	[92]
PIAS2	OTJLSC3V	Strong	Biomarker	[93]
POGLUT1	OTDX7GZD	Strong	Biomarker	[94]
PURB	OTCDDKYB	Strong	Biomarker	[95]
RARS1	OTHPZ6JN	Strong	Biomarker	[96]
RGPD2	OTMUZ0HX	Strong	Genetic Variation	[59]
RPL23	OTXI1YLM	Strong	Biomarker	[93]
RRM2B	OTE8GBUR	Strong	Altered Expression	[97]
SBDS	OTHDCCIB	Strong	Altered Expression	[76]
SEMG1	OT6Z4BPQ	Strong	Biomarker	[68]
SFTPA1	OT87XL1U	Strong	Biomarker	[98]
SIPA1	OTXY5RXC	Strong	Biomarker	[98]
SOX7	OTOZOFAG	Strong	Biomarker	[99]
TFR2	OTMYCCEO	Strong	Altered Expression	[100]
TIFAB	OTBX12V9	Strong	Biomarker	[101]
TRIM33	OT0KS4J7	Strong	Biomarker	[102]
TSHZ2	OTZWBXXY	Strong	Genetic Variation	[63]
PURA	OT975ELW	Definitive	Genetic Variation	[103]
RPS19	OTBKGP48	Definitive	Genetic Variation	[104]
SETBP1	OTKGCOSR	Definitive	Genetic Variation	[105]
------------------------------------------------------------------------------------


⏷ Show the Full List of 81 DOT(s)

References

1	A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
2	High methylation of the 4-aminobutyrate aminotransferase gene predicts a poor prognosis in patients with myelodysplastic syndrome.Int J Oncol. 2019 Feb;54(2):491-504. doi: 10.3892/ijo.2018.4652. Epub 2018 Dec 4.
3	Differential expression of AURKA and AURKB genes in bone marrow stromal mesenchymal cells of myelodysplastic syndrome: correlation with G-banding analysis and FISH.Exp Hematol. 2013 Feb;41(2):198-208. doi: 10.1016/j.exphem.2012.10.009. Epub 2012 Oct 22.
4	Multicenter comparison of CD34+ myeloid cell count by flow cytometry in low-risk myelodysplastic syndrome. Is it feasible?.Cytometry B Clin Cytom. 2018 May;94(3):527-535. doi: 10.1002/cyto.b.21538. Epub 2017 Jul 6.
5	Unravelling the relevance of CLEC12A as a cancer stem cell marker in myelodysplastic syndrome.Br J Haematol. 2016 Nov;175(3):393-401. doi: 10.1111/bjh.14270. Epub 2016 Sep 9.
6	Crbn (I391V) is sufficient to confer in vivo sensitivity to thalidomide and its derivatives in mice.Blood. 2018 Oct 4;132(14):1535-1544. doi: 10.1182/blood-2018-05-852798. Epub 2018 Jul 31.
7	ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome.Haematologica. 2008 Mar;93(3):467-8. doi: 10.3324/haematol.11988.
8	CD123 CAR T cells for the treatment of myelodysplastic syndrome.Exp Hematol. 2019 Jun;74:52-63.e3. doi: 10.1016/j.exphem.2019.05.002. Epub 2019 May 25.
9	Increase of IRF-1 gene expression and impairment of T regulatory cells suppression activity on patients with myelodysplastic syndrome: A longitudinal one-year study.Leuk Res. 2017 Apr;55:6-17. doi: 10.1016/j.leukres.2017.01.008. Epub 2017 Jan 5.
10	Erythropoiesis in myelodysplastic syndrome: expression of receptors for erythropoietin and kit ligand.Leukemia. 1996 Mar;10(3):466-72.
11	Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myeloproliferative disorders with JAK2 V617F.Hum Pathol. 2008 Jul;39(7):1111-4. doi: 10.1016/j.humpath.2007.10.034. Epub 2008 May 13.
12	Pattern associated leukemia immunophenotypes and measurable disease detection in acute myeloid leukemia or myelodysplastic syndrome with mutated NPM1.Cytometry B Clin Cytom. 2019 Jan;96(1):67-72. doi: 10.1002/cyto.b.21744. Epub 2018 Nov 12.
13	RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen.Transfusion. 2020 Jan;60(1):184-196. doi: 10.1111/trf.15628. Epub 2019 Dec 16.
14	The relation of SF3B1 mutation and intracellular iron in myelodysplastic syndrome with less than 5% bone marrow blasts.Leuk Lymphoma. 2019 May;60(5):1179-1186. doi: 10.1080/10428194.2018.1520990. Epub 2018 Nov 9.
15	High expression of the receptor tyrosine kinase Tie-1 in acute myeloid leukemia and myelodysplastic syndrome.Leuk Lymphoma. 2001 Jul;42(3):511-6. doi: 10.3109/10428190109064609.
16	Long-term follow up of invasive aspergillosis in allogeneic stem cell transplantation recipients and leukemia patients: Differences in risk factors and outcomes.Curr Res Transl Med. 2017 Apr-Jun;65(2):77-81. doi: 10.1016/j.retram.2017.05.003. Epub 2017 Jul 5.
17	Comparative analysis of G-CSFR and GM-CSFR expressions on CD34+ cells in patients with aplastic anemia and myelodysplastic syndrome.Int J Lab Hematol. 2009 Dec;31(6):597-602. doi: 10.1111/j.1751-553X.2008.01083.x. Epub 2008 Jul 14.
18	Atypical myeloproliferative disorders: diagnosis and management.Mayo Clin Proc. 2006 Apr;81(4):553-63. doi: 10.4065/81.4.553.
19	Repeated sequences in CASPASE-5 and FANCD2 but not NF1 are targets for mutation in microsatellite-unstable acute leukemia/myelodysplastic syndrome.Mol Cancer Res. 2005 May;3(5):251-60. doi: 10.1158/1541-7786.MCR-04-0182.
20	3q26/EVI1 rearrangement in myelodysplastic/myeloproliferative neoplasms: An early event associated with a poor prognosis.Leuk Res. 2018 Feb;65:25-28. doi: 10.1016/j.leukres.2017.12.004. Epub 2017 Dec 23.
21	Origin and fate of blood cells deficient in glycosylphosphatidylinositol-anchored protein among patients with bone marrow failure.Br J Haematol. 2009 Oct;147(1):102-12. doi: 10.1111/j.1365-2141.2009.07822.x. Epub 2009 Jul 28.
22	LSD1-mediated repression of GFI1 super-enhancer plays an essential role in erythroleukemia.Leukemia. 2020 Mar;34(3):746-758. doi: 10.1038/s41375-019-0614-6. Epub 2019 Nov 1.
23	Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.Ann N Y Acad Sci. 2016 Apr;1370(1):119-25. doi: 10.1111/nyas.13097.
24	CSNK1A1 mutations and isolated del(5q) abnormality in myelodysplastic syndrome: a retrospective mutational analysis.Lancet Haematol. 2015 May;2(5):e212-21. doi: 10.1016/S2352-3026(15)00050-2. Epub 2015 May 6.
25	Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.J Dermatol. 2017 Jun;44(6):651-655. doi: 10.1111/1346-8138.13709. Epub 2016 Dec 27.
26	Endoplasmic reticulum protein GliPR1 regulates G protein signaling and the cell cycle and is overexpressed in AML.Oncol Rep. 2013 Nov;30(5):2254-62. doi: 10.3892/or.2013.2716. Epub 2013 Sep 4.
27	Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.Blood. 2004 Feb 15;103(4):1518-20. doi: 10.1182/blood-2003-09-3222. Epub 2003 Oct 23.
28	The translocation t(2;11)(p21;q23) without MLL gene rearrangement--a possible marker of good prognosis in myelodysplastic syndrome patients.Hematol Oncol. 2014 Jun;32(2):82-6. doi: 10.1002/hon.2089. Epub 2013 Aug 16.
29	Involvement of 11p15 and 3q21q26 in therapy-related myeloid leukemia (t-ML) in children. Case reports and review of the literature.Cancer Genet Cytogenet. 1994 Jul 1;75(1):11-22. doi: 10.1016/0165-4608(94)90209-7.
30	RNA cytosine methylation and methyltransferases mediate chromatin organization and 5-azacytidine response and resistance in leukaemia.Nat Commun. 2018 Mar 21;9(1):1163. doi: 10.1038/s41467-018-03513-4.
31	Nuclear translocation of PKC- is associated with cell cycle arrest and erythroid differentiation in myelodysplastic syndromes (MDSs).FASEB J. 2018 Feb;32(2):681-692. doi: 10.1096/fj.201700690R. Epub 2018 Jan 4.
32	SPAG6 silencing induces apoptosis in the myelodysplastic syndrome cell line SKM? via the PTEN/PI3K/AKT signaling pathway in vitro and in vivo.Int J Oncol. 2018 Jul;53(1):297-306. doi: 10.3892/ijo.2018.4390. Epub 2018 May 2.
33	High expression of the human equilibrative nucleoside transporter 1 gene predicts a good response to decitabine in patients with myelodysplastic syndrome.J Transl Med. 2016 Mar 5;14:66. doi: 10.1186/s12967-016-0817-9.
34	Molecular cloning and analysis of the human Tec protein-tyrosine kinase.Leukemia. 1994 Oct;8(10):1663-72.
35	Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases.Ann Hematol. 2018 Mar;97(3):417-424. doi: 10.1007/s00277-017-3208-2. Epub 2017 Dec 22.
36	Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.Leukemia. 2015 Jan;29(1):188-95. doi: 10.1038/leu.2014.170. Epub 2014 May 23.
37	Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.
38	Treatment-related myelodysplastic syndrome in a child with acute myeloid leukemia and TPMT heterozygosity.J Pediatr Hematol Oncol. 2015 May;37(4):e242-4. doi: 10.1097/MPH.0000000000000211.
39	Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13).Genes Chromosomes Cancer. 1999 Nov;26(3):192-202. doi: 10.1002/(sici)1098-2264(199911)26:3<192::aid-gcc2>3.0.co;2-e.
40	Clinical Outcomes of Decitabine Treatment for Patients With Lower-Risk Myelodysplastic Syndrome on the Basis of the International Prognostic Scoring System.Clin Lymphoma Myeloma Leuk. 2019 Oct;19(10):656-664. doi: 10.1016/j.clml.2019.06.003. Epub 2019 Jun 27.
41	High-Throughput Screening to Identify Inhibitors of DEAD Box Helicase DDX41.SLAS Discov. 2017 Oct;22(9):1084-1092. doi: 10.1177/2472555217705952. Epub 2017 Apr 20.
42	Trilineage Dysplasia in an Adolescent With Germline GATA2 Mutation.J Pediatr Hematol Oncol. 2019 Jul;41(5):392-393. doi: 10.1097/MPH.0000000000001469.
43	MNDA binds NPM/B23 and the NPM-MLF1 chimera generated by the t(3;5) associated with myelodysplastic syndrome and acute myeloid leukemia.Exp Hematol. 1997 Oct;25(11):1111-7.
44	Knock-in of a FLT3/ITD mutation cooperates with a NUP98-HOXD13 fusion to generate acute myeloid leukemia in a mouse model.Blood. 2012 Mar 22;119(12):2883-94. doi: 10.1182/blood-2011-10-382283. Epub 2012 Feb 8.
45	Myeloid neoplasms with eosinophilia.Blood. 2017 Feb 9;129(6):704-714. doi: 10.1182/blood-2016-10-695973. Epub 2016 Dec 27.
46	RUNX1-PDCD6 fusion resulting from a novel t(5;21)(p15;q22) chromosome translocation in myelodysplastic syndrome secondary to chronic lymphocytic leukemia.PLoS One. 2018 Apr 19;13(4):e0196181. doi: 10.1371/journal.pone.0196181. eCollection 2018.
47	Myelodysplastic Syndrome Splicing Factor Mutations Induce R-Loops.Cancer Discov. 2018 Apr;8(4):OF13. doi: 10.1158/2159-8290.CD-RW2018-025. Epub 2018 Feb 9.
48	Detection of Novel t(12;17)(p12;p13) in Relapsed Refractory Acute Myeloid Leukemia by Anchored Multiplex PCR(AMP)-based Next-Generation Sequencing.Appl Immunohistochem Mol Morphol. 2019 Mar;27(3):e28-e31. doi: 10.1097/PAI.0000000000000477.
49	Concurrent mutations in other epigenetic modulators portend better prognosis in BCOR-mutated myelodysplastic syndrome.J Clin Pathol. 2020 Apr;73(4):209-212. doi: 10.1136/jclinpath-2019-206132. Epub 2019 Nov 26.
50	Examination of copy number variations of CHST9 in multiple types of hematologic malignancies.Cancer Genet Cytogenet. 2010 Dec;203(2):176-9. doi: 10.1016/j.cancergencyto.2010.07.132.
51	Recurrent unbalanced whole-arm t(1;10)(q10;p10) in myelodysplastic syndrome: a case report and literature review.Cancer Genet Cytogenet. 2007 Jan 15;172(2):165-7. doi: 10.1016/j.cancergencyto.2006.09.022.
52	NUP98 dysregulation in myeloid leukemogenesis.Ann N Y Acad Sci. 2007 Jun;1106:114-42. doi: 10.1196/annals.1392.019. Epub 2007 Apr 18.
53	The interleukin-3 receptor CD123 targeted SL-401 mediates potent cytotoxic activity against CD34(+)CD123(+) cells from acute myeloid leukemia/myelodysplastic syndrome patients and healthy donors.Haematologica. 2018 Aug;103(8):1288-1297. doi: 10.3324/haematol.2018.188193. Epub 2018 May 17.
54	p15Ink4b Functions in determining hematopoietic cell fates: implications for its role as a tumor suppressor.Blood Cells Mol Dis. 2013 Apr;50(4):227-31. doi: 10.1016/j.bcmd.2013.01.006. Epub 2013 Feb 9.
55	Altered immunophenotypic features of peripheral blood platelets in myelodysplastic syndromes.Haematologica. 2012 Jun;97(6):895-902. doi: 10.3324/haematol.2011.057158. Epub 2012 Jan 22.
56	Leptin-deficient obesity prolongs survival in a murine model of myelodysplastic syndrome.Haematologica. 2018 Apr;103(4):597-606. doi: 10.3324/haematol.2017.181958. Epub 2018 Jan 25.
57	Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis.J Clin Invest. 2017 Apr 3;127(4):1316-1320. doi: 10.1172/JCI82905. Epub 2017 Feb 27.
58	Myelodysplastic Syndrome-Associated SRSF2 Mutations Cause Splicing Changes by Altering Binding Motif Sequences.Front Genet. 2019 Apr 16;10:338. doi: 10.3389/fgene.2019.00338. eCollection 2019.
59	Enforced expression of NUP98-HOXA9 in human CD34(+) cells enhances stem cell proliferation.Cancer Res. 2006 Dec 15;66(24):11781-91. doi: 10.1158/0008-5472.CAN-06-0706.
60	Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.J Thromb Haemost. 2017 Dec;15(12):2388-2392. doi: 10.1111/jth.13855. Epub 2017 Oct 28.
61	A novel gene, ANKRD28 on 3p25, is fused with NUP98 on 11p15 in a cryptic 3-way translocation of t(3;5;11)(p25;q35;p15) in an adult patient with myelodysplastic syndrome/acute myelogenous leukemia.Int J Hematol. 2007 Oct;86(3):238-45. doi: 10.1532/IJH97.07054.
62	Related transplantation with HLA-1 Ag mismatch in the GVH direction and HLA-8/8 allele-matched unrelated transplantation: a nationwide retrospective study.Blood. 2012 Mar 8;119(10):2409-16. doi: 10.1182/blood-2011-08-372573. Epub 2011 Oct 31.
63	ASXL1 gene alterations in patients with isolated 20q deletion.Neoplasma. 2019 Jul 23;66(4):627-630. doi: 10.4149/neo_2018_181010N754.
64	Lentiviral vector-mediate ATG3 overexpression inhibits growth and promotes apoptosis of human SKM-1 cells.Mol Biol Rep. 2014;41(4):2093-9. doi: 10.1007/s11033-014-3058-0. Epub 2014 Jan 14.
65	A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired -thalassemia.Cancer Genet. 2019 Feb;231-232:36-40. doi: 10.1016/j.cancergen.2019.01.002. Epub 2019 Jan 9.
66	Leukopenia and lack of ribavirin predict poor outcomes in patients with haematological malignancies and respiratory syncytial virus infection.J Antimicrob Chemother. 2018 Nov 1;73(11):3162-3169. doi: 10.1093/jac/dky311.
67	BRCC3 mutations in myeloid neoplasms.Haematologica. 2015 Aug;100(8):1051-7. doi: 10.3324/haematol.2014.111989. Epub 2015 May 22.
68	Guadecitabine (SGI-110): an investigational drug for the treatment of myelodysplastic syndrome and acute myeloid leukemia.Expert Opin Investig Drugs. 2019 Oct;28(10):835-849. doi: 10.1080/13543784.2019.1667331. Epub 2019 Sep 19.
69	Aberrant DNA methylation of p57(KIP2) gene in the promoter region in lymphoid malignancies of B-cell phenotype.Blood. 2002 Oct 1;100(7):2572-7. doi: 10.1182/blood-2001-11-0026.
70	Progression from myelodysplastic syndrome to acute lymphoblastic leukaemia with Philadelphia chromosome and p190 BCR-ABL transcript.Br J Haematol. 1996 May;93(2):389-91. doi: 10.1046/j.1365-2141.1996.4931034.x.
71	C-type lectin-like molecule-1: a novel myeloid cell surface marker associated with acute myeloid leukemia.Cancer Res. 2004 Nov 15;64(22):8443-50. doi: 10.1158/0008-5472.CAN-04-1659.
72	Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
73	Aberrant hypermethylation of CTNNA1 gene is associated with higher IPSS risk in patients with myelodysplastic syndrome.Clin Chem Lab Med. 2014 Dec;52(12):1859-65. doi: 10.1515/cclm-2014-0446.
74	Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia.Cancer Genet Cytogenet. 2005 Mar;157(2):104-8. doi: 10.1016/j.cancergencyto.2004.06.014.
75	Hypermethylation of DLX4 predicts poor clinical outcome in patients with myelodysplastic syndrome.Clin Chem Lab Med. 2016 May;54(5):865-71. doi: 10.1515/cclm-2015-0536.
76	Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients.Haematologica. 2012 Aug;97(8):1218-24. doi: 10.3324/haematol.2011.054437. Epub 2012 Feb 27.
77	Retracted: EBF1 gene promotes the proliferation and inhibits the apoptosis of bone marrow CD34+ cells in patients with myelodysplastic syndrome through negative regulation of mitogen-activated protein kinase axis.J Cell Biochem. 2019 Feb;120(2):1407-1419. doi: 10.1002/jcb.27177. Epub 2018 Oct 18.
78	A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome.Sci Transl Med. 2019 Jul 10;11(500):eaav5467. doi: 10.1126/scitranslmed.aav5467.
79	Late-appearing Philadelphia chromosome in a patient with acute nonlymphocytic leukaemia derived from myelodysplastic syndrome: detection of P210- and P190-type bcr/abl fusion gene transcripts at the leukaemic stage.Br J Haematol. 1994 May;87(1):51-6. doi: 10.1111/j.1365-2141.1994.tb04869.x.
80	Essential role of FBXL5-mediated cellular iron homeostasis in maintenance of hematopoietic stem cells.Nat Commun. 2017 Jul 17;8:16114. doi: 10.1038/ncomms16114.
81	Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome.Blood. 2008 Apr 1;111(7):3802-12. doi: 10.1182/blood-2007-07-096065. Epub 2008 Jan 14.
82	Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome.Haematologica. 2018 Apr;103(4):614-625. doi: 10.3324/haematol.2017.167288. Epub 2018 Jan 11.
83	GPR68: An Emerging Drug Target in Cancer.Int J Mol Sci. 2019 Jan 28;20(3):559. doi: 10.3390/ijms20030559.
84	Clinical implications of the quantitative detection of ID4 gene methylation in myelodysplastic syndrome.Eur J Med Res. 2015 Feb 20;20(1):16. doi: 10.1186/s40001-015-0092-x.
85	CD41 immune staining of micromegakaryocytes improves the diagnosis of myelodysplastic syndrome and differentiation from pancytopenia.Leuk Res. 2018 Mar;66:15-19. doi: 10.1016/j.leukres.2017.10.004. Epub 2017 Oct 18.
86	Oncogenic potential of the transcription factor LYL1 in acute myeloblastic leukemia. Leukemia. 2005 Nov;19(11):1941-7. doi: 10.1038/sj.leu.2403836.
87	Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23).Genes Chromosomes Cancer. 2007 Sep;46(9):813-9. doi: 10.1002/gcc.20467.
88	Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature.Cancer Genet Cytogenet. 2010 Jun;199(2):101-9. doi: 10.1016/j.cancergencyto.2010.02.009.
89	Elevated AF1q expression is a poor prognostic marker for adult acute myeloid leukemia patients with normal cytogenetics.Am J Hematol. 2009 May;84(5):308-9. doi: 10.1002/ajh.21396.
90	The presence of monoclonal gammopathy in Ph-negative myeloproliferative neoplasms is associated with a detrimental effect on outcomes.Leuk Lymphoma. 2017 Nov;58(11):2582-2587. doi: 10.1080/10428194.2017.1312380. Epub 2017 May 9.
91	High expression of ERCC1, FLT1, NME4 and PCNA associated with poor prognosis and advanced stages in myelodysplastic syndrome.Leuk Lymphoma. 2008 Jul;49(7):1297-305. doi: 10.1080/10428190802129918.
92	NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes.Cancer Genet Cytogenet. 2009 Apr 15;190(2):108-12. doi: 10.1016/j.cancergencyto.2008.12.008.
93	Ribosomal protein L23 negatively regulates cellular apoptosis via the RPL23/Miz-1/c-Myc circuit in higher-risk myelodysplastic syndrome.Sci Rep. 2017 May 24;7(1):2323. doi: 10.1038/s41598-017-02403-x.
94	Overexpression of human CAP10-like protein 46 KD in T-acute lymphoblastic leukemia and acute myelogenous leukemia.Genet Test Mol Biomarkers. 2010 Feb;14(1):127-33. doi: 10.1089/gtmb.2009.0145.
95	Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia.Leukemia. 2001 Jun;15(6):954-62. doi: 10.1038/sj.leu.2402108.
96	Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category?.Br J Haematol. 2009 Mar;144(6):809-17. doi: 10.1111/j.1365-2141.2008.07526.x. Epub 2008 Dec 11.
97	p53-inducible ribonucleotide reductase (p53R2/RRM2B) is a DNA hypomethylation-independent decitabine gene target that correlates with clinical response in myelodysplastic syndrome/acute myelogenous leukemia. Cancer Res. 2008 Nov 15;68(22):9358-66. doi: 10.1158/0008-5472.CAN-08-1860.
98	Myeloproliferative stem cell disorders by deregulated Rap1 activation in SPA-1-deficient mice.Cancer Cell. 2003 Jul;4(1):55-65. doi: 10.1016/s1535-6108(03)00163-6.
99	Methylation of the CpG island near SOX7 gene promoter is correlated with the poor prognosis of patients with myelodysplastic syndrome.Tohoku J Exp Med. 2012 Jun;227(2):119-28. doi: 10.1620/tjem.227.119.
100	Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells.Blood. 2001 Nov 1;98(9):2714-9. doi: 10.1182/blood.v98.9.2714.
101	Epistasis between TIFAB and miR-146a: neighboring genes in del(5q) myelodysplastic syndrome.Leukemia. 2017 Jul;31(7):1659. doi: 10.1038/leu.2017.95. Epub 2017 Apr 7.
102	Anti-TIF1gamma Antibody-Positive Dermatomyositis Associated with Myelodysplastic Syndrome: Response to Treatment.Cureus. 2019 Sep 26;11(9):e5775. doi: 10.7759/cureus.5775.
103	PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions.Gene. 2018 Feb 15;643:133-143. doi: 10.1016/j.gene.2017.12.004. Epub 2017 Dec 6.
104	Assessment of liver and cardiac iron overload using MRI in patients with chronic anemias in Latin American countries: results from ASIMILA study.Hematology. 2018 Oct;23(9):676-682. doi: 10.1080/10245332.2018.1461292. Epub 2018 Apr 17.
105	SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.Pathol Res Pract. 2018 May;214(5):706-712. doi: 10.1016/j.prp.2018.03.010. Epub 2018 Mar 7.