PDF(Pubmed)
Abstract：
BACKGROUND Fanconi anemia (FA) is a genetic disorder that impairs the function of the bone marrow and predisposes individuals to aplastic anemia. The condition is caused by mutations in genes responsible for DNA repair. People with FA have an increased risk of developing tumors due to DNA damage. Flat-cell carcinomas of the head, neck, esophagus, and genital organs are often observed in individuals with FA. CASE REPORT A 31-year-old man with Fanconi anemia and a history of bone marrow transplantation was admitted to the General Surgery Department due to elevated levels of the CEA marker. Before the transplantation, chromosomal anomalies, bone marrow hypoplasia, kidney agenesis, and bone defects were noted. After the transplantation, he developed a skin rash. He was also diagnosed with squamous cell carcinoma of the lip and chronic conditions, including cholestatic liver damage, hypertension, and hypothyroidism. During the diagnostic process, computed tomography showed signs of Barrett\'s esophagus, numerous polyps in the stomach and intestines, and a nodular formation measuring 4.5×5×5.5 cm in the right iliac region. Laparoscopy revealed a neoplasm of the appendix with numerous metastases on the inner abdominal wall and omentum. Histological analysis confirmed mucinous appendiceal cancer. The patient was discharged for palliative treatment at the Oncology Center with a final diagnosis of appendiceal cancer, mucinous type, grade G3. This case underscores the importance of early and comprehensive cancer screening in individuals with FA, particularly those with a history of bone marrow transplantation. CONCLUSIONS This clinical case underscores the critical importance of thorough and timely cancer diagnosis in individuals with this genetic pathology.
摘要：
背景技术范可尼贫血(FA)是一种遗传性疾病,其损害骨髓功能并使个体易患再生障碍性贫血。这种情况是由负责DNA修复的基因突变引起的。患有FA的人由于DNA损伤而发生肿瘤的风险增加。头部扁平细胞癌,脖子,食道,和生殖器官经常在患有FA的个体中观察到。病例报告由于CEA标记物水平升高，一名31岁的Fanconi贫血并有骨髓移植史的男子被送入普外科。移植前,染色体异常,骨髓发育不全,肾脏发育不全,并注意到骨缺损。移植后,他出现了皮疹。他还被诊断出患有唇鳞状细胞癌和慢性病，包括胆汁淤积性肝损伤,高血压,和甲状腺功能减退。在诊断过程中,计算机断层扫描显示巴雷特食管的迹象，胃和肠中有许多息肉，右侧髂区结节形成4.5×5×5.5cm。腹腔镜检查显示阑尾肿瘤在腹壁和网膜上有许多转移。组织学分析证实粘液性阑尾癌。患者在肿瘤中心接受姑息治疗，最终诊断为阑尾癌，黏液型,G3级。该病例强调了对FA患者进行早期和全面癌症筛查的重要性，特别是那些有骨髓移植史的人。结论该临床病例强调了对具有这种遗传病理学的个体进行彻底和及时的癌症诊断的至关重要性。
