AI Article Synopsis
- Recurrent mutations in MYD88 and CXCR4 are crucial for diagnosing and treating rare B cell neoplasms like LPL/WM.
- Analysis of MYD88 L265P mutation showed high positivity (84.8%) with AS-PCR, while Sanger sequencing yielded lower positivity (39.3%).
- The study found low frequency of CXCR4 mutations, indicating AS-PCR as a reliable diagnostic tool for MYD88 (L265P) in molecular labs.
Article Abstract
Recurrent mutations affecting MYD88 and CXCR4 gene nowadays form the basis for the diagnosis, risk stratification and use of inhibitors targeting these signalling pathways in LPL/WM which are rare B cell neoplasms. MYD88 L265P mutation analysis was performed on 33 cases of LPL/WM by AS-PCR (positivity-84.8%, n = 28/33) and by Sanger sequencing (positivity-39.3%, n = 13/33). We had only two cases with CXCR4 non-sense (NS) mutation (p.S338*) using Sanger sequencing. MYD88 (L265P) mutation detection by AS-PCR can form reliable biomarker for the diagnosis of LPL/WM in molecular labs. Although the cohort is small, still the CXCR4 mutation frequency in our study is low as compared to the published literature.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369099 | PMC |
| http://dx.doi.org/10.1007/s12288-018-0978-1 | DOI Listing |
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