Haematology, Belfast Health and Social Care Trust, Belfast, UK
Haematology, Belfast Health and Social Care Trust, Belfast, UK.
J Clin Pathol. 2019 Nov;72(11):778-782. doi: 10.1136/jclinpath-2019-205895. Epub 2019 Aug 31.
SF3B1 is the largest subunit of the Spliceosome Factor 3b (SF3B) complex and part of the U2 small nuclear ribosomal protein. It functions as an important part of spliceosomal assembly, converting precursor messenger RNA (mRNA) to mRNA ready for ribosomal translation. Mutations of are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). These mutations are typically heterozygous missense substitutions, of which, 55% involve K700E. MDS-RS and MDS/MPN-RS-T usually carry a more favourable prognosis than other subtypes of MDS. itself does not influence survival in these conditions, but does correlate with increased thrombotic risk. Mutated is present in 9%-15% of chronic lymphocytic leukaemia cases and on its own correlates with improved responsiveness to ibrutinib, but is associated with additional adverse genetic abnormalities including and mutations, which traditionally confer adverse outcomes.
SF3B1 是剪接体因子 3b（SF3B）复合物的最大亚基，也是 U2 小核核糖体蛋白的一部分。它作为剪接体组装的重要组成部分，将前体信使 RNA（mRNA）转化为核糖体翻译准备的 mRNA。 是环状铁幼粒细胞性难治性贫血伴多系增生异常（MDS-RS）和 MDS/骨髓增生性肿瘤伴环状铁幼粒细胞（MDS/MPN-RS-T）中常见的突变。这些突变通常是杂合错义取代，其中 55%涉及 K700E。MDS-RS 和 MDS/MPN-RS-T 通常比 MDS 的其他亚型具有更好的预后。 在这些情况下，SF3B1 本身并不影响生存，但与血栓形成风险增加相关。 在 9%-15%的慢性淋巴细胞白血病病例中存在突变，并且与对伊布替尼的更高反应性相关，但与其他不良遗传异常相关，包括 和 突变，这些突变传统上预示着不良结局。
