炎症相关基因S100s、RNASE3和CYBB与骨髓纤维化的骨髓增生异常综合征患者白血病转化风险
Inflammation-related genes S100s, RNASE3, and CYBB and risk of leukemic transformation in patients with myelodysplastic syndrome with myelofibrosis.
作者信息
Hong Minghua, Wu Junqing, Ma Lifeng, Han Xiaoping, Lu Ting, Wang Zhaoming, Zhao Jing, Liu Lizhen, Fu Huarui, Huang Weijia, Zheng Weiyan, He Jingsong, Wei Guoqing, Wang Huanping, Chen Zhimei, Huang He, Cai Zhen, Guo Guoji, Sun Jie
机构信息
Bone Marrow Transplantation Center, the First Affiliated Hospital, Zhejiang University School of Medicine; Institute of Hematology, Zhejiang University; Zhejiang Province Engineering Laboratory for Stem Cell and Immunity Therapy; Liangzhu Laboratory, Zhejiang University Medical Center, 1369 West Wenyi Road, 310003, Hangzhou, China.
Center for Stem Cell and Regenerative Medicine, Stem Cell Institute, School of Medicine, Zhejiang University, 310058, Hangzhou, China.
出版信息
Biomark Res. 2021 Jul 2;9(1):53. doi: 10.1186/s40364-021-00304-w.
Myelodysplastic syndrome with myelofibrosis (MDS-MF) has been associated with an inferior prognosis compared with MDS without MF. However, MDS-MF is not listed independently as a subtype of MDS, and its clinical and genetic characteristics remain poorly understood. We retrospectively compared 53 patients with MDS-MF (44 MF grade 1/MF; 9 MF grade 2-3/MF) and 31 with de novo MDS without MF (MDS). The leukemic transformation risks of both MDS-MF and MDS-MF were increased compared with the MDS group. To identify the potential mechanisms responsible for the leukemic transformation of MDS-MF, we performed single-cell sequencing for one MDS-MF patient before and after leukemic transformation to explore the variations in gene expression levels. In addition to upgraded expression levels of acute myeloid leukemia-related genes during leukemic transformation, expression levels of some inflammation-related genes (such as S100s, RNASE3, and CYBB) were also increased, and inflammation-related pathways were up-regulated. These results suggest that inflammation-related genes and pathways may play an important role in the leukemic transformation of MDS-MF.
与无骨髓纤维化的骨髓增生异常综合征（MDS）相比，伴有骨髓纤维化的骨髓增生异常综合征（MDS-MF）的预后较差。然而，MDS-MF并未被单独列为MDS的一个亚型，其临床和遗传特征仍知之甚少。我们回顾性比较了53例MDS-MF患者（44例MF 1级/MF；9例MF 2-3级/MF）和31例初发无MF的MDS患者（MDS）。与MDS组相比，MDS-MF和MDS-MF的白血病转化风险均增加。为了确定MDS-MF白血病转化的潜在机制，我们对1例MDS-MF患者白血病转化前后进行了单细胞测序，以探索基因表达水平的变化。除了白血病转化过程中急性髓系白血病相关基因表达水平升高外，一些炎症相关基因（如S100s、RNASE3和CYBB）的表达水平也升高，且炎症相关通路上调。这些结果表明，炎症相关基因和通路可能在MDS-MF的白血病转化中起重要作用。
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