Cervical Cancer at a Young Age: Considering Fanconi Anemia as Part of the Clinical Workup

G. Weaver, A. Bruegl, T. Pejovic, M. Moffitt
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Abstract

Background: Fanconi Anemia is a rare condition that carries an increased risk of squamous cell carcinoma of the head, neck and cervix due to mutations in DNA repair pathways. These same mutations may also be associated with intrinsic treatment resistance (FANCD2) and hypersensitivity (FANCA). Case: A 22-year-old woman with a history of anemia who presented with rapid progression to squamous cell carcinoma of the cervix. She developed aplastic anemia during chemoradiation and was subsequently diagnosed with Fanconi Anemia. Conclusion: Rare conditions such as Fanconi Anemia should be considered when the clinical course varies significantly from the norm. Consultations with hematology and genetics may elucidate other possible contributing factors. HPV vaccination remains an underutilized method for primary prevention of cervical cancer and should be promoted among eligible populations.
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宫颈癌在年轻时:考虑范可尼贫血作为临床检查的一部分
背景:范可尼贫血是一种罕见的疾病,由于DNA修复途径的突变,导致头颈部和子宫颈鳞状细胞癌的风险增加。这些相同的突变也可能与内在治疗耐药性(FANCD2)和超敏性(FANCA)有关。病例:22岁女性贫血史,表现为宫颈鳞状细胞癌的快速进展。她在放化疗期间出现再生障碍性贫血,随后被诊断为范可尼贫血。结论:罕见情况如范可尼贫血,临床病程与正常情况差异较大时应予以考虑。咨询血液学和遗传学可以阐明其他可能的影响因素。HPV疫苗接种仍然是一种未充分利用的宫颈癌初级预防方法,应在符合条件的人群中推广。
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