Distinct molecular genetics of chronic lymphocytic leukemia in Taiwan: clinical and pathogenetic implications
| Title: | Distinct molecular genetics of chronic lymphocytic leukemia in Taiwan: clinical and pathogenetic implications |
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| Authors: | Shang-Ju Wu, Chien-Ting Lin, Andreas Agathangelidis, Liang-In Lin, Yuan-Yeh Kuo, Hwei-Fang Tien, Paolo Ghia |
| Source: | Haematologica, Vol 102, Iss 6 (2017) |
| Publisher Information: | Ferrata Storti Foundation, 2017. |
| Publication Year: | 2017 |
| Collection: | LCC:Diseases of the blood and blood-forming organs |
| Subject Terms: | Diseases of the blood and blood-forming organs, RC633-647.5 |
| More Details: | Differences in chronic lymphocytic leukemia between the Asian and the Western population are widely known. To further clarify these ethnic differences, we profiled the molecular genetics in a cohort of 83 newly diagnosed patients from Taiwan. In detail, we assessed: (i) the usage and the mutational status of the clonotypic immunoglobulin heavy-chain variable region (IgHV) genes, (ii) the presence of VH CDR3 stereotypes, and (iii) TP53, NOTCH1, SF3B1, BIRC3, and MYD88 mutations. The IgHV gene repertoire was biased and distinct from that observed in the West with the most common IgHV genes being IgHV3-23, IgHV3-7, and IgHV3-48. In terms of IgHV gene mutational status, 63.8% of patients carried mutated rearrangements, whereas 22.4% of patients were assigned to stereotyped subsets (6.9% to major subsets and 15.5% to minor ones). The frequencies of NOTCH1, SF3B1, BIRC3 and MYD88 mutations were 9.6%, 7.2%, 1.2%, and 2.4%, respectively; however, the frequency of TP53 mutations was significantly higher (20.5%). Patients with TP53 mutations or del(17p), SF3B1 mutations and unmutated IgHV had a worse outcome compared to the other patients. In conclusion, the differences observed in IgHV properties suggest different pathogenetic factors implicated in the development of chronic lymphocytic leukemia, while the high frequency of TP53 mutations could in part explain the dismal outcome of these patients in Taiwan |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 0390-6078 1592-8721 |
| Relation: | https://haematologica.org/article/view/8099; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721 |
| DOI: | 10.3324/haematol.2016.157552 |
| Access URL: | https://doaj.org/article/2213a7f19788439f9e43da483e2574f8 |
| Accession Number: | edsdoj.2213a7f19788439f9e43da483e2574f8 |
| Database: | Directory of Open Access Journals |
| ISSN: | 03906078 15928721 |
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| DOI: | 10.3324/haematol.2016.157552 |
| Published in: | Haematologica |
| Language: | English |