[Effect of Allelic State on Clinical Performance and Prognosis of Patients with Myelodysplastic Syndrome].

OBJECTIVE

To investigate the clinical significance of allelic state in patients with myelodysplastic syndromes (MDS).

METHODS

The clinical data of 858 MDS patients who underwent second-generation sequencing (NGS) testing in the First Affiliated Hospital of Soochow University from January 2019 to December 2021 were retrospectively analyzed.

RESULTS

The median age of the patients was 52 years old, and median follow-up time was 23.8 (0.4-109.6) months. Four hundred and one patients (46.7%) had at least one chromosomal abnormality, including 106 complex karyotypes and 78 monosomal karyotypes. A total of 103 cases of mutations were identified, with a mutation rate of 12%. Compared with wild-type, various types of chromosomal abnormalities were significantly more common in patients with mutations (all < 0.001). Patients with mutations had lower hemoglobin levels, lower platelet counts and higher percentage of bone marrow primitive cell compared with wild type (all < 0.05), and significantly shorter overall survival (OS). Among 97 evaluable patients, 33 cases (34%) were mono-allelic mutation, while 64 cases were bi-allelic mutation. Patients in bi-allelic mutation subgroup had a higher proportion of chromosomal abnormalities and a lower number of co-mutations compared with mono-allelic mutation. The median OS was 33.6 months in patients with mono-allelic state and only 11.4 months in patients with bi-allelic state (=2.138, 95% : 1.053-4.343, >0.05). Median OS was not reached in wild-type patients, and there was a significant difference in OS among wild-type, mono-allelic and bi-allelic mutation patients ( < 0.001). Multivariable Cox regression analysis showed that bi-allelic was an independent predictor of poor outcomes (=2.808, 95% : 1.487-5.003, =0.001), while mono-allelic mutation and wild-type were not.

CONCLUSION

Patients with mutations have a poor prognosis, and bi-allelic mutations have a worse prognosis compared with mono-allelic mutations and independently affect the prognosis of MDS patients.