Thomas E R A, Shanley S, Walker L, Eeles R
Kennedy-Galton Centre, Northwick Park Hospital, London, UK.
Clin Oncol (R Coll Radiol). 2008 Jun;20(5):375-9. doi: 10.1016/j.clon.2008.01.007. Epub 2008 Mar 21.
We report a patient with Bloom syndrome, a rare autosomal recessive condition characterised by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with any cancer of significantly early onset, short stature and a photosensitive lupus-like rash on the face. Diagnostic confirmation is obtained from chromosome studies that show significantly increased numbers of sister chromatid exchanges. There are important management implications, including minimising the use of ionising radiation in surveillance and treatment.
我们报告了一名患有布卢姆综合征的患者，这是一种罕见的常染色体隐性疾病，其特征是染色体不稳定，导致早年患癌风险很高。对于任何癌症发病明显早、身材矮小且面部有光敏性狼疮样皮疹的患者，都应考虑进行该诊断。通过染色体研究获得诊断确认，该研究显示姐妹染色单体交换数量显著增加。这有重要的管理意义，包括在监测和治疗中尽量减少电离辐射的使用。
