Author:
Chang Lixian,Zhang Li,Zhao Beibei,Cheng Xuelian,Wan Yang,Zhang Ranran,Yuan Weiping,Gao Xingjie,Zhu Xiaofan
Abstract
Abstract
Background
Individuals diagnosed with Fanconi anemia (FA), an uncommon disorder characterized by chromosomal instability affecting the FA signaling pathway, exhibit heightened vulnerability to the onset of myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML).
Methods
Herein, we employed diverse bioinformatics and statistical analyses to investigate the potential associations between the expression/mutation patterns of FA pathway genes and MDS/AML.
Results
The study included 4295 samples, comprising 3235 AML and 1024 MDS from our and nine other online cohorts. We investigated the distinct proportion of race, age, French-American-British, and gender factors. Compared to the FA wild-type group, we observed a decrease in the expression of FNACD2, FANCI, and RAD51C in the FA mutation group. The FA mutation group exhibited a more favorable clinical overall survival prognosis. We developed a random forest classifier and a decision tree based on FA gene expression for cytogenetic risk assessment. Furthermore, we created an FA-related Nomogram to predict survival rates in AML patients.
Conclusions
This investigation facilitates a deeper understanding of the functional links between FA and MDS/AML.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics