Department of Oncology, Radiology and Clinical Immunology, Uppsala University, Uppsala SE-751 85, Sweden.
Leuk Res. 2011 Feb;35(2):272-4. doi: 10.1016/j.leukres.2010.08.023. Epub 2010 Sep 25.
TP53 mutations in the absence of 17p-deletion correlate with rapid disease progression and poor survival in chronic lymphocytic leukemia (CLL). Herein, we determined the TP53 mutation frequency in 268 newly diagnosed CLL patients from a population-based material. Overall, we detected TP53 mutations in 3.7% of patients (n = 10), where 7/10 cases showed a concomitant 17p-deletion, confirming the high prevalence of TP53 mutation in 17p-deleted patients. Only 3 (1.1%) of the newly diagnosed patients in our cohort thereby carried TP53 mutations without 17p-deletion, a frequency that is much lower than previous reports on referral cohorts (3-6%). Our findings imply that TP53 mutations are rare at CLL onset and instead may arise during disease progression.
在慢性淋巴细胞白血病（CLL）中，无 17p 缺失的 TP53 突变与疾病的快速进展和不良预后相关。在此，我们在一项基于人群的研究中检测了 268 例新诊断的 CLL 患者中的 TP53 突变频率。总的来说，我们在 3.7%的患者（n=10）中检测到 TP53 突变，其中 7/10 例患者同时存在 17p 缺失，证实了 17p 缺失患者中 TP53 突变的高发率。在我们的队列中，仅有 3（1.1%）例新诊断的患者存在无 17p 缺失的 TP53 突变，这一频率明显低于以往对转诊队列的报告（3-6%）。我们的研究结果表明，TP53 突变在 CLL 发病时罕见，而可能在疾病进展过程中出现。
