Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Pediatr Blood Cancer. 2012 Mar;58(3):462-5. doi: 10.1002/pbc.23168. Epub 2011 May 5.
Fanconi anemia (FA) is characterized by progressive marrow failure, congenital anomalies, and predisposition to malignancy. Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion of children with FA with earlier onset and increased incidence of leukemia and solid tumors. Patients with FA have increased sensitivity to chemotherapy and radiation, and upon development of a solid tumor, require modification of these therapies. We report clinical and molecular features of three patients with FA associated with FANCD1/BRCA2 mutations, including two novel mutations, and discuss treatment of malignancy and associated side effects in this particularly vulnerable group.
范可尼贫血（FA）的特征是进行性骨髓衰竭、先天畸形和恶性肿瘤易感性。双等位基因 FANCD1/BRCA2 突变是一小部分 FA 患儿疾病的遗传基础，这些患儿发病较早，白血病和实体瘤的发病率增加。FA 患者对化疗和放疗的敏感性增加，在发生实体瘤后，需要对这些疗法进行调整。我们报告了 3 例与 FANCD1/BRCA2 突变相关的 FA 患者的临床和分子特征，包括 2 种新突变，并讨论了这一特别脆弱群体中恶性肿瘤的治疗及其相关副作用。
