Huck Kirsten, Hanenberg Helmut, Gudowius Sonja, Fenk Roland, Kalb Reinhard, Neveling Kornelia, Betz Beate, Niederacher Dieter, Haas Rainer, Göbel Ulrich, Kobbe Guido, Schindler Detlev
Department of Paediatric Oncology, Haematology and Immunology, Children's Hospital UKD, Heinrich Heine University, Moorenstrasse 5, 40225 Duesseldorf, Germany.
Br J Haematol. 2006 Apr;133(2):188-97. doi: 10.1111/j.1365-2141.2006.05998.x.
Fanconi anaemia (FA) is a rare recessive DNA repair disorder clinically characterised by congenital malformations, progressive bone marrow failure and a high propensity for developing malignancies at an early age, predominantly acute myeloid leukaemia (AML) and squamous cell carcinoma. It is conceivable that a number of patients with hypomorphic mutations are not diagnosed as FA until severe complications in the treatment of a malignancy occur. Here, we report on a patient with FA-A, diagnosed only at the age of 49 years due to persistent pancytopenia and myelodysplastic syndrome/AML induced by a first cycle of chemotherapy for bilateral metachronic breast cancer. This exceptional case clearly demonstrates that, in instances of long-lasting mild pancytopenia or development of malignancies, especially at an unusually young age, FA should be ruled out, irrespective of the patient's age and features, especially before inflicting severe genotoxic stress.
范可尼贫血（FA）是一种罕见的隐性DNA修复障碍疾病，临床特征为先天性畸形、进行性骨髓衰竭以及在早年发生恶性肿瘤的倾向较高，主要是急性髓系白血病（AML）和鳞状细胞癌。可以想象，一些具有低功能突变的患者直到在恶性肿瘤治疗中出现严重并发症才被诊断为FA。在此，我们报告一例FA-A患者，该患者因双侧转移性乳腺癌的首个化疗周期诱发持续性全血细胞减少和骨髓增生异常综合征/AML，直到49岁才被诊断出来。这个特殊病例清楚地表明，在出现长期轻度全血细胞减少或发生恶性肿瘤的情况下，尤其是在异常年轻的年龄，无论患者的年龄和特征如何，特别是在施加严重的基因毒性应激之前，都应排除FA。
