Preliminary Study on the Relationship between the Developmental Stage of Multiple Myeloma Disease and the Results of Bone Marrow Whole Exome Sequencing.
10.19746/j.cnki.issn.1009-2137.2023.06.023
- Author:
Qing-Zhao LI
1
;
Hu ZHAO
1
;
Hai-Mei CHEN
1
;
Huang HUANG
1
;
Juan PENG
1
;
Guo-Yu HU
1
;
Chan-Juan SHEN
1
;
Zhao-Hui YUAN
2
Author Information
1. Department of Hematology, Zhuzhou Central Hospital, Zhuzhou 412007, Hunan Province, China.
2. Department of Hematology, Zhuzhou Central Hospital, Zhuzhou 412007, Hunan Province, China.E-mail: 454572267@qq.com.
- Publication Type:Journal Article
- Keywords:
multiple myeloma;
whole exome sequencing;
bortezomib
- MeSH:
Humans;
Multiple Myeloma/drug therapy*;
Bortezomib/therapeutic use*;
Bone Marrow;
Exome Sequencing;
Mouth Mucosa;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
- From:
Journal of Experimental Hematology
2023;31(6):1750-1756
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the genetic results of whole exome sequencing of bone marrow from new onset multiple myeloma (MM) patients to analyze the process of genetic clonal evolution in MM patients.
METHODS:Genomic DNA was extracted from bone marrow samples of 15 MM patients and the whole exomes sequencing was performed using next generation sequencing technology. Using own buccal cells as germline controls, combinated with clinical information, the mutation profile of genes from high-risk asymptomatic myeloma to symptomatic myeloma were analyzed, and genes that may be associated with the efficacy and side effects of bortezomib were screened.
RESULTS:Except for two patients in whom no peripheral neuropathy was observed after a short treatment period, other patients peripheral neuropathy developed of various degrees during treatment with bortezomib containing chemotherapy, and the vast majority of patients achieved remission after receiving this bortezomib-related chemotherapy regimen. All patients had comparable levels of the inherited mutations number, but the somatic mutations was correlated with disease evolution.
CONCLUSION:different gene "mutational spectra" exist in myeloma patients at different stages and are associated with progression through all stages of the disease.
