Implementation of cytogenomic microarray with plasma cell enrichment enables better abnormality detection and risk stratification in patients with plasma cell neoplasia than conventional cytogenetics and fluorescence in situ hybridization
| Autor: | Alvin Soon Tiong Lim, Tse Hui Lim, Evelyn Yee Hsieh Heng, Sim Leng Tien, Chuanfei Chen, Lai Ching Lau |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Cancer Research Microarray Plasma Cell Enrichment Plasma Cells Plasma cell Biology Loss of heterozygosity Cytogenetics 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Neoplasms Plasma Cell Molecular Biology In Situ Hybridization Fluorescence Chromothripsis medicine.diagnostic_test Gold standard (test) Prognosis Molecular biology medicine.anatomical_structure 030220 oncology & carcinogenesis Female Bone marrow Fluorescence in situ hybridization |
| Zdroj: | Cancer Genetics. :25-36 |
| ISSN: | 2210-7762 |
| Popis: | The detection of chromosomal abnormalities is important in the diagnosis, prognosis and disease monitoring in plasma cell neoplasia (PCN). However, the gold standard diagnostic techniques of conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) are hampered by culture difficulties and probe availability. Cytogenomic microarray (CMA), however, is able to surmount such limitations and generate a comprehensive genomic profile with the implementation of plasma cell (PC) enrichment. In this study, we examined 89 bone marrow specimens with CC and FISH without PC enrichment, 35 of which were examined with CMA after PC enrichment. Results revealed that after PC enrichment, CMA was able to detect chromosomal abnormalities in 34 of 35 specimens tested (97.1%), compared to 21 and 32 specimens (60% and 91.4%, respectively) achieved by CC and FISH, respectively, which were similar to the abnormality detection rates among all 89 specimens (59.5% by CC and 92.1% by FISH). In addition, as the only technique capable of detecting copy neutral loss of heterozygosity (CN-LOH) and chromothripsis, CMA appears to be the most powerful tool in risk stratification as it successfully re-stratified 9 (25.7%) and 12 (34.3%) specimens from standard risk (determined by CC and FISH, respectively) to high risk. Based on the encouraging data presented by our study and others, we conclude that implementation of CMA with PC enrichment is of great value in routine clinical workup in achieving a more complete genetic profile of patients with PCN. |
| Databáze: | OpenAIRE |
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