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Objectives <p>To investigate the presentation, treatment, and outcomes of head and neck squamous cell carcinoma (HNSCC) in patients with Fanconi anemia (FA), a rare genetic disorder characterized by increased cancer risk and treatment complications.</p> Methods <p>We conducted a retrospective cohort study of 11 FA patients diagnosed with HNSCC across five XXX medical centers from 2014 to 2023. Data on patient demographics, tumor characteristics, treatment modalities, complications, recurrences, and survival outcomes were analyzed using descriptive and survival statistics.</p> Results <p>FA patients developed HNSCC at a median age of 31.5&#xa0;years, primarily in the oral cavity. Surgical treatment was the primary treatment modality; however adjunct radiotherapy resulted in severe complications, such as high-grade mucositis in 75% of cases. Median overall survival was 28.7&#xa0;months, with 36.4% of patients succumbing within 12&#xa0;months of diagnosis. Recurrences were noted in three patients, split equally between local and distant sites, and 36% developed secondary malignancies up to 17&#xa0;years post-initial diagnosis.</p> Conclusions <p>HNSCC in FA patients presents distinct challenges, including a younger onset age, high rates of severe treatment complications, and poor survival outcomes. Tailoring treatment strategies to minimize radiotherapy exposure and implementing rigorous, long-term surveillance for second malignancies are essential for managing these high-risk patients.</p> Level of Evidence: <p>Level IV.</p>

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Fanconi anemia patients with head and neck squamous cell carcinoma - a multi-center study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年5月21日

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  • Nir Tsur,
  • Anner Moskovitz,
  • Yehuda Zadik,
  • Ehud Even-Or,
  • Narin Nard Carmel Neiderman,
  • Elchanan Zloczower,
  • Omry Frig,
  • Orna Steinberg-Shemer,
  • Hannah Tamary,
  • Noga Kurman,
  • Inna Ospovat,
  • Eyal Yosefof

摘要

Objectives

To investigate the presentation, treatment, and outcomes of head and neck squamous cell carcinoma (HNSCC) in patients with Fanconi anemia (FA), a rare genetic disorder characterized by increased cancer risk and treatment complications.

Methods

We conducted a retrospective cohort study of 11 FA patients diagnosed with HNSCC across five XXX medical centers from 2014 to 2023. Data on patient demographics, tumor characteristics, treatment modalities, complications, recurrences, and survival outcomes were analyzed using descriptive and survival statistics.

Results

FA patients developed HNSCC at a median age of 31.5 years, primarily in the oral cavity. Surgical treatment was the primary treatment modality; however adjunct radiotherapy resulted in severe complications, such as high-grade mucositis in 75% of cases. Median overall survival was 28.7 months, with 36.4% of patients succumbing within 12 months of diagnosis. Recurrences were noted in three patients, split equally between local and distant sites, and 36% developed secondary malignancies up to 17 years post-initial diagnosis.

Conclusions

HNSCC in FA patients presents distinct challenges, including a younger onset age, high rates of severe treatment complications, and poor survival outcomes. Tailoring treatment strategies to minimize radiotherapy exposure and implementing rigorous, long-term surveillance for second malignancies are essential for managing these high-risk patients.

Level of Evidence:

Level IV.