Comparison of Clinical Characteristics and Genetic Aberrations of Plasma Cell Disorders in Thailand Population
Issued Date
2022-01-01
Resource Type
ISSN
15330346
eISSN
15330338
Scopus ID
2-s2.0-85133147627
Pubmed ID
35770320
Journal Title
Technology in Cancer Research and Treatment
Volume
21
Rights Holder(s)
SCOPUS
Bibliographic Citation
Technology in Cancer Research and Treatment Vol.21 (2022)
Suggested Citation
Jirabanditsakul C., Dakeng S., Kunacheewa C., U-pratya Y., Owattanapanich W. Comparison of Clinical Characteristics and Genetic Aberrations of Plasma Cell Disorders in Thailand Population. Technology in Cancer Research and Treatment Vol.21 (2022). doi:10.1177/15330338221111228 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/87123
Title
Comparison of Clinical Characteristics and Genetic Aberrations of Plasma Cell Disorders in Thailand Population
Author's Affiliation
Other Contributor(s)
Abstract
Multiple myeloma is an incurable malignancy of plasma cells resulting from impaired terminal B cell development. Almost all patients with multiple myeloma eventually have a relapse. Many studies have demonstrated the importance of the various genomic mutations that characterize multiple myeloma as a complex heterogeneous disease. In recent years, next-generation sequencing has been used to identify the genomic mutation landscape and clonal heterogeneity of multiple myeloma. This is the first study, a prospective observational study, to identify somatic mutations in plasma cell disorders in the Thai population using targeted next-generation sequencing. Twenty-seven patients with plasma cell disorders were enrolled comprising 17 cases of newly diagnosed multiple myeloma, 5 cases of relapsed/refractory multiple myeloma, and 5 cases of other plasma cell disorders. The pathogenic mutations were found in 17 of 27 patients. Seventy percent of those who had a mutation (12/17 patients) habored a single mutation, whereas the others had more than one mutation. Fifteen pathogenic mutation genes were identified: ATM, BRAF, CYLD, DIS3, DNMT3A, FBXW7, FLT3, GNA13, IRF4, KMT2A, NRAS, SAMHD1, TENT5C, TP53, and TRAF3. Most have previously been reported to be involved in the RAS/MAPK pathway, the nuclear factor kappa B pathway, the DNA-repair pathway, the CRBN pathway, tumor suppressor gene mutation, or an epigenetic mutation. However, the current study also identified mutations that had not been reported to be related to myeloma: GNA13 and FBXW7. Therefore, a deep understanding of molecular genomics would inevitably improve the clinical management of plasma cell disorder patients, and the increased knowledge would ultimately result in better outcomes for the patients.