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David I. Kutler, MD; Arleen D. Auerbach, PhD; Jaya Satagopan, PhD; Philip F. Giampietro, MD, PhD; Sat Dev Batish, PhD; Andrew G. Huvos, MD; Andy Goberdhan, BS; Jatin P. Shah, MD; Bhuvanesh Singh, MD

Arch Otolaryngol Head Neck Surg. 2003;129:106-112.

Background  Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by a high degree of genomic instability and predisposition to cancer development. Recent evidence suggests that the incidence of head and neck squamous cell carcinoma (HNSCC) may be increased in patients with FA.

Objective  To determine the cumulative incidence, tumor distribution, and outcome of HNSCC in patients with FA.

Design and Setting  We analyzed data from 754 subjects from the International Fanconi Anemia Registry, a prospectively collected database of patients with FA.

Main Outcome Measures  Cumulative incidence of HNSCC and 2-year overall, relapse-free and disease-specific survival.

Results  Of the 754 patients in the International Fanconi Anemia Registry, 19 (3%) had HNSCC. This is a significantly higher incidence of HNSCC compared with that observed in the general population (standardized incidence ratio, 500; 95% confidence interval, 300-781) (P<.001). The patients' age ranged from 15 to 49 years (median, 31 years), and there was a 2:1 female predominance. Surgical treatment was well tolerated (n = 17); however, radiation therapy and chemotherapy were associated with significant morbidity and mortality. Of the 19 patients, 10 (53%) developed locoregional recurrences within a median of 16 months from diagnosis. The median follow-up was 29 months. The 2-year disease-specific, overall, and relapse-free survival rates were 49%, 49%, and 42%, respectively. The cumulative incidence of relapse by the age of 40 years was 50%.

Conclusions  In patients with FA, there is a high incidence of aggressive HNSCC at a young age. Surgery remains the mainstay of treatment because patients with FA tolerate radiation therapy and chemotherapy poorly, with significant morbidity. An increased understanding of FA-associated malignancies is not only important in the clinical management of patients with FA but can also elucidate the role of chromosomal instability in the development of HNSCC in general.

From the Division of Head and Neck Surgery, Department of Surgery, and the Laboratory of Epithelial Cancer Biology (Drs Kutler, Satagopan, Shah, and Singh and Mr Goberdhan) and Department of Pathology (Dr Huvos), Memorial Sloan-Kettering Cancer Center, and the Laboratory of Human Genetics and Hematology, The Rockefeller University (Drs Auerbach, Giampietro, and Batish), New York, NY.

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