62
edits
Changes
→Cancer Category/Type
==Cancer Category/Type==
==Cancer Category/Type==
'''[[Myelodysplastic Syndromes (MDS)]]'''
''SRSF2'' is mutated in approximately 14% of MDS patients (Papaemmanuil et al., 2013). ''SRSF2'' variants are mutually exclusive to ''EZH2'' variants, ''SF3B1'' variants, and pathogenic variants in other splicing factors, but are positively correlated with ''IDH1'', ''IDH2'', and ''RUNX1'' mutations (Papaemmanuil et al., 2013; Thol et al., 2012; Yoshida et al., 2011). ''SRSF2'' variants typically originate early in the generation of dysplastic lineages (Papaemmanuil et al., 2013). ''SRSF2'' variants correlate with shorter overall survival and more frequent progression to acute myeloid leukemia (AML) (Thol et al., 2012). These variants are almost always missense mutations in proline residue 95 (NM_003016.4) (Yoshida et al., 2011).
'''[[Chronic Myelomonocytic Leukemia (CMML)]]'''
''SRSF2'' variants, predominantly missense mutations affecting the proline 95 (NM_003016.4) residue, are seen in approximately 32-47% of chronic myelomonocytic leukemia (CMML) cases but rarely in juvenile myelomonocytic leukemia (Kar et al., 2013; Meggendorfer et al., 2012). ''SRSF2'' variants are positively correlated with higher age, less pronounced anemia, and a normal karyotype. The prognostic impact is unclear, although ''SRSF2'' and ''RUNX1'' co-mutation may correlate with an improved overall survival (Itzykson et al., 2013; Meggendorfer et al., 2012). ''EZH2'' and ''SRSF2'' variants are mutually exclusive (Meggendorfer et al., 2012).
'''[[Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]]'''
Mutations in ''SRSF2'', mostly affecting proline 95 (NM_003016.4), are found in ~7% of acute myeloid leukemia (AML) with myelodysplasia-related changes but rarely (<1%) in patients with de novo AML (Yoshida et al., 2011). One study found that ''SRSF2'' variants correlated with older age but no other prognostic markers in AML; however, AML sub-types were not separated (Yang et al., 2016).
==Gene Overview==
==Gene Overview==