Abstract：
Fanconi anemia (FA) is an inherited bone marrow failure syndrome (IBMFS) characterized by pathogenic variants in the FA/BRCA DNA repair pathway genes. Individuals with FA have an elevated risk of developing myelodysplastic syndrome, acute myeloid leukemia, and solid tumors. Hematopoietic cell transplantation (HCT) is the most effective treatment for FA related bone marrow failure but can increase the risk of cancer development. Information on benign tumors and NMSC is lacking in patients with FA. Our objective was to characterize patients with FA enrolled in the National Cancer Institute IBMFS Study who have experienced non-melanoma skin cancers (NMSC) and/or benign tumors (BT). A total of 200 patients diagnosed with FA were enrolled in the Institutional Review Board approved study \"Etiologic Investigation of Cancer Susceptibility in IBMFS: A Natural History Study\" (NCT00027274). Through medical records review, we identified 30 patients with at least one NMSC, either squamous or basal cell carcinoma, or benign tumor. The remaining 170 patients comprised the control group. Out of 200 patients, 12 had NMSC, 25 had benign tumors, with an age range of 11-64 and 0-56 years, respectively. The median age at HCT was 30.5 years for NMSC patients, 9 years for benign tumor patients, and 9.1 years for controls. The most common genotype observed was FANCA, followed by FANCC and FANCI. Benign tumors spanned diverse anatomical locations. Early onset NMSC in patients with FA compared to the general population emphasizes the need for consistent monitoring in patients with FA, while the diverse anatomical locations of benign tumors underscore the importance of comprehensive surveillance for timely interventions in managing symptomatology and heightened cancer risk.
摘要：
范可尼贫血（FA）是一种遗传性骨髓衰竭综合征（IBMFS），其特征是FA/BRCADNA修复途径基因中的致病性变异。患有FA的个体患骨髓增生异常综合征的风险升高，急性髓系白血病,和实体瘤。造血细胞移植（HCT）是与FA相关的骨髓衰竭的最有效治疗方法，但会增加癌症发展的风险。FA患者缺乏有关良性肿瘤和NMSC的信息。我们的目标是表征参加国家癌症研究所IBMFS研究的FA患者，他们经历了非黑色素瘤皮肤癌（NMSC）和/或良性肿瘤（BT）。机构审查委员会批准的研究“IBMFS中癌症易感性的病因学调查：自然历史研究”（NCT00027274）中总共有200名被诊断为FA的患者。通过病历审查，我们确定了30例至少有一个NMSC的患者，鳞状细胞癌或基底细胞癌，或良性肿瘤。其余170名患者为对照组。在200名患者中，12有NMSC，25人患有良性肿瘤，年龄范围为11-64岁和0-56岁，分别。NMSC患者的HCT中位年龄为30.5岁，良性肿瘤患者9年，和9.1年的控制。最常见的基因型是FANCA,其次是FANCC和FANCI。良性肿瘤跨越不同的解剖位置。与普通人群相比，FA患者的早期NMSC强调需要对FA患者进行一致的监测，而良性肿瘤的不同解剖位置强调了全面监测对及时干预管理症状和增加癌症风险的重要性。
