Table 1. Clinical features of splicing... | American Society of Hematology

Table 1.

Clinical features of splicing factor mutations in hematologic malignancies

Gene	Disease	Frequency (%)	Co-occurring mutations	Clinical association(s)
SF3B1	CLL	5-17^{16,17,24,25,110}	del(11q)¹⁶	Reduced PFS¹⁶ (clonal only),¹¹⁰ reduced OS,²⁵ reduced PFS/OS^17,24
	MDS	7-28^{18,26,38,45,49,111-113}	DNMT3A³⁸	Improved LFS/OS^18,26
	RARS/RCMD-RS	54-83^15,18,38,114		Improved OS,²⁹ no impact on LFS/OS^26,28,111
	RARS-T	81-88^45,114
	RA	5-12^18,38,45
	RAEB	5-11^18,45
	RCMD	4-6^18,45
	Secondary AML	5-11^26,35,43,114
	De novo AML	3-5^18,35,41,114
	tAML	3⁴³
	CMML	5-6^18,32
	MDS/MPN	18²⁶
	MPN
	PMF	4-8^18,27,35,42		No impact on OS²⁷
	ET	3¹⁸
	Secondary AML	4³⁵
SRSF2	MDS	1-12^{15,33,37,38,45,49,112,113}	RUNX1,^33,37,45ASXL1,^33,45IDH2,^33,45IDH1,³⁷TET2,^38,45STAG2⁴⁵	Reduced PFS,¹¹² reduced LFS,⁴⁵ reduced OS (lower risk IPSS),³³ reduced OS (multivariate),¹¹³ reduced LFS/OS³⁷
	Secondary AML	5-20^35,43
	CMML	30-47^28,31,33,39	TET2³¹	No impact on OS,^31,33 reduced LFS/OS³⁹
	MPN
	PMF	3-17^34,35,42	IDH1/2³⁴	Reduced LFS/OS³⁴
	Secondary AML	19³⁵		Reduced OS³⁵
	De novo AML	5-6^35,41		Reduced OS (univariate)⁴¹
	tAML	11⁴³
U2AF1	MDS	5-11^{14,36-38,45,49,63,112,113,115}	del(20q),^14,36,38ASXL1,^37,38,45DNMT3A³⁷	Reduced PFS,¹¹² reduced LFS,⁴⁵ reduced OS (univariate),¹¹³ inferior OS, inferior LFS (lower risk)³⁶
	Secondary AML	9-16^35,43
	MDS/MPN	14⁶³
	CMML	5-9^32,39
	MPN	8⁶³
	PMF	3-16^35,42		Reduced OS (univariate)⁴²
	Secondary AML	5.7³⁵
	De novo AML	2-7^{15,35,41,63,115}
	tAML	5⁴³
ZRSR2	MDS	1-11^{15,37,38,45,49}	TET2³⁸
	Secondary AML	2-8^35,43
	MPN
	PMF	6-11^35,42
	Secondary AML	1.8³⁵
	De novo AML	5.6³⁵
	tAML	1⁴³

Gene	Disease	Frequency (%)	Co-occurring mutations	Clinical association(s)
SF3B1	CLL	5-17^{16,17,24,25,110}	del(11q)¹⁶	Reduced PFS¹⁶ (clonal only),¹¹⁰ reduced OS,²⁵ reduced PFS/OS^17,24
	MDS	7-28^{18,26,38,45,49,111-113}	DNMT3A³⁸	Improved LFS/OS^18,26
	RARS/RCMD-RS	54-83^15,18,38,114		Improved OS,²⁹ no impact on LFS/OS^26,28,111
	RARS-T	81-88^45,114
	RA	5-12^18,38,45
	RAEB	5-11^18,45
	RCMD	4-6^18,45
	Secondary AML	5-11^26,35,43,114
	De novo AML	3-5^18,35,41,114
	tAML	3⁴³
	CMML	5-6^18,32
	MDS/MPN	18²⁶
	MPN
	PMF	4-8^18,27,35,42		No impact on OS²⁷
	ET	3¹⁸
	Secondary AML	4³⁵
SRSF2	MDS	1-12^{15,33,37,38,45,49,112,113}	RUNX1,^33,37,45ASXL1,^33,45IDH2,^33,45IDH1,³⁷TET2,^38,45STAG2⁴⁵	Reduced PFS,¹¹² reduced LFS,⁴⁵ reduced OS (lower risk IPSS),³³ reduced OS (multivariate),¹¹³ reduced LFS/OS³⁷
	Secondary AML	5-20^35,43
	CMML	30-47^28,31,33,39	TET2³¹	No impact on OS,^31,33 reduced LFS/OS³⁹
	MPN
	PMF	3-17^34,35,42	IDH1/2³⁴	Reduced LFS/OS³⁴
	Secondary AML	19³⁵		Reduced OS³⁵
	De novo AML	5-6^35,41		Reduced OS (univariate)⁴¹
	tAML	11⁴³
U2AF1	MDS	5-11^{14,36-38,45,49,63,112,113,115}	del(20q),^14,36,38ASXL1,^37,38,45DNMT3A³⁷	Reduced PFS,¹¹² reduced LFS,⁴⁵ reduced OS (univariate),¹¹³ inferior OS, inferior LFS (lower risk)³⁶
	Secondary AML	9-16^35,43
	MDS/MPN	14⁶³
	CMML	5-9^32,39
	MPN	8⁶³
	PMF	3-16^35,42		Reduced OS (univariate)⁴²
	Secondary AML	5.7³⁵
	De novo AML	2-7^{15,35,41,63,115}
	tAML	5⁴³
ZRSR2	MDS	1-11^{15,37,38,45,49}	TET2³⁸
	Secondary AML	2-8^35,43
	MPN
	PMF	6-11^35,42
	Secondary AML	1.8³⁵
	De novo AML	5.6³⁵
	tAML	1⁴³

CMML, chronic myelomonocytic leukemia; ET, essential thrombocythemia; LFS, leukemia-free survival; IPSS, International Prognostic Scoring System; MPN, myeloproliferative neoplasm; OS, overall survival; PFS, progression-free survival; PMF, primary myelofibrosis; RA, refractory anemia; RAEB, refractory anemia with excess blasts; RARS, refractory anemia with ringed sideroblasts; RARS-T, refractory anemia with ringed sideroblasts and thrombocytosis; RCMD-RS, refractory cytopenia with multilineage dysplasia and ringed sideroblasts; tAML, therapy-related AML.

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