Department of Stomatology, School of Dentistry, University of Sao Paulo (USP), São Paulo, Brazil.
Department of Pathology, Institute of Biological Science, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Spec Care Dentist. 2022 May;42(3):299-303. doi: 10.1111/scd.12668. Epub 2021 Nov 4.
Fanconi anemia is a rare disorder resulting from defects in genes responsible for DNA damage responses. It is characterized by congenital anomalies, aplastic anemia, and a predisposition to cancer. Currently, hematopoietic stem cell transplant (HSCT) is the only curative treatment available for bone marrow failure; however, HSCT increases oral squamous cell carcinoma (OSCC) risk. Here we report the case of a patient diagnosed with Fanconi anemia in childhood who was treated with HSCT and later diagnosed with multiple OSCCs during a 12-year follow-up. Despite multiple surgical interventions and radiotherapy regimens, the patient`s health deteriorated. Management of individuals with Fanconi anemia is challenging and must be provided by a multidisciplinary healthcare team to ensure better staging, treatment planning, and coordination.
范可尼贫血是一种罕见的疾病,源于负责 DNA 损伤反应的基因缺陷。其特征为先天异常、再生障碍性贫血和癌症易感性。目前,造血干细胞移植(HSCT)是骨髓衰竭的唯一根治性治疗方法;然而,HSCT 会增加口腔鳞状细胞癌(OSCC)的风险。本研究报告了一例儿童期诊断为范可尼贫血的患者,该患者接受了 HSCT 治疗,在 12 年的随访中被诊断出患有多发性 OSCC。尽管进行了多次手术干预和放疗方案,患者的健康状况仍逐渐恶化。范可尼贫血患者的管理具有挑战性,必须由多学科医疗团队提供,以确保更好的分期、治疗计划和协调。