Insights into myelodysplastic syndromes from current preclinical models

Table 2 Candidate genes used to model myelodysplastic syndromes in mice and their correlation to human myelodysplastic syndromes

Gene(s) studied	Chromosomal location	Frequency in human MDS	Equivalent human MDS subtype according to WHO 2008 classification	Ref.
Transcription factors
NUP98-HOXD13	t(2;11)(q31;p15)	Rare	RCMD	[69]
RUNX1	21q22.3	15%-40%	RAEB	[105]
EVI1	3q26.2	Rare	RCMD	[136]
SALL4	20q13.2	15%-40%	RCMD	[139]
NPM1	5q35.1	About 4%	RCMD	[138]
Signalling molecules
NRAS	1p13.2	About 20%	RAEB	[142]
BCL2	18q21.33	Unknown
PTEN	10q23.3	Unknown	RCMD	[140]
SHIP	2q37.1	Unknown
Epigenetic regulators
TET2	4q24	20%-30%	RCMD/CMML	[115]
ASXL1	20q11.21	15%-20%	RCMD	[122,123]
EZH2	7q36.1	2%-6%	RCMD/MPN	[141]
MLL5	7q22.1	Unknown	No definitive MDS	[145]
RNA spliceosome
SRSF2	17q25.2	15%-30%	RCMD	[98]
U2AF1	21q22.3	11%	No definitive MDS	[100]
SF3B1	2q33.1	10%-20%	RARS, RARS-T	[101]
Telomere function
TERT	5p15.33	Unknown	RCMD	[124]
5q-
RPS14	5q33.1	About 10%	5q-like	[91]
CD74-SMIM3 (NID67)	5q32-q33.1			[92]
SPARC	5q33.1			[97]
MIR145/146A	5q32-34			[143]
APC	5q22.2			[99]
CSNK1A1	5q32			[94]

WHO: World Health Organization; RARS: Refractory anemia with ringed sideroblasts; RARS-T: Refractory anemia with ringed sideroblasts and thrombocytosis; RCMD: Refractory anemia with multilineage dysplasia; RAEB: Refractory anemia with excess blasts; MPN: Myeloproliferative neoplasm; MDS: Myelodysplastic syndromes; CMML: Chronic myelomonocytic leukemia.