Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.
Leuk Res. 2012 Apr;36(4):483-4. doi: 10.1016/j.leukres.2011.12.015. Epub 2012 Jan 9.
The spectrum of underlying molecular abnormalities of clinically and biologically heterogeneous chronic lymphocytic leukaemia (CLL) and prolymphocytic leukaemia (PLL) has yet to be identified. While whole genome sequencing has identified several genes implicated in the pathogenesis and progression of CLL, the molecular lesions in a substantial proportion of patients remain to be elucidated. The incidence of the BRAF V600E mutation, widely implicated in solid tumours and other B-cell malignancies, was sought in a cohort of patients with CLL and related disorders. One CLL patient and one patient with B-prolymphocytic leukaemia (PLL) were found to harbour this mutation. Although present at a low frequency, the finding of BRAF V600E has biological and clinical implications for CLL and PLL.
临床上和生物学上具有异质性的慢性淋巴细胞白血病(CLL)和幼淋巴细胞白血病(PLL)的潜在分子异常谱尚未确定。虽然全基因组测序已经确定了几个与 CLL 的发病机制和进展相关的基因,但仍有相当一部分患者的分子病变尚未阐明。在一组 CLL 患者及相关疾病患者中,我们试图寻找广泛涉及实体瘤和其他 B 细胞恶性肿瘤的 BRAF V600E 突变。我们发现 1 例 CLL 患者和 1 例 B 幼淋巴细胞白血病(PLL)患者存在这种突变。虽然频率较低,但 BRAF V600E 的发现对 CLL 和 PLL 具有生物学和临床意义。