Vinarkar Sushant, Arora Neeraj, Chowdhury Sourav Sarma, Saha Kallol, Pal Biswajoy, Parihar Mayur, Radhakrishnan Vivek S, Chakrapani Anupam, Bhartia Shilpa, Bhave Saurabh, Chandy Mammen, Nair Reena, Mishra Deepak Kumar
1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.
2Department of Laboratory Haematology and Cytogenetics, Tata Medical Center, Kolkata, India.
Indian J Hematol Blood Transfus. 2019 Jan;35(1):57-65. doi: 10.1007/s12288-018-0978-1. Epub 2018 Jul 2.
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.
目前，影响MYD88和CXCR4基因的复发性突变构成了诊断、风险分层以及在淋巴浆细胞淋巴瘤/华氏巨球蛋白血症（LPL/WM，一种罕见的B细胞肿瘤）中使用靶向这些信号通路的抑制剂的基础。通过等位基因特异性PCR（AS-PCR，阳性率84.8%，n = 28/33）和桑格测序（阳性率39.3%，n = 13/33）对33例LPL/WM病例进行了MYD88 L265P突变分析。使用桑格测序，我们仅发现2例CXCR4无义（NS）突变（p.S338*）。通过AS-PCR检测MYD88（L265P）突变可为分子实验室诊断LPL/WM形成可靠的生物标志物。尽管队列规模较小，但与已发表文献相比，我们研究中的CXCR4突变频率仍然较低。
