Head and neck cancer in Fanconi anemia and dyskeratosis congenita.

Abstract

5563 Background: Fanconi Anemia (FA) and dyskeratosis congenita (DC) are inherited bone marrow failure syndromes (IBMFS) with extraordinarily high risks of cancer, particularly head and neck squamous cell carcinoma (HNSCC). The standardized incidence ratios (SIR) for solid tumors are 40 in FA and 10 in DC, and for HNSCC 700 and 900 respectively. In the general population, cancers of the oropharynx may be associated with human papilloma virus (HPV) more than the oral cavity. The specific locations of HNSCC in FA and DC have not been reviewed, and thus the hypothetical role of HPV in these cancers is unknown. Methods: Literature cases were reviewed through PubMed searches using the terms “Fanconi anemia” and “dyskeratosis congenita”. All papers were reviewed, and details of the specific cancers recorded. FA literature included reports from 1927 through 2011, and DC literature from 1910 through 2011. Participants in the National Cancer Institute (NCI) IBMFS retrospective/prospective protocol (NCI 02-C-0052, opened in 2002) were also analyzed for cancer. The HPV vaccine was not available during most of the time frame of this study. Results: There were 411 cases of cancer among 2190 (19%) cases of FA described individually in the literature, and 21 cancer cases out of 116 (18%) FA patients in the NCI cohort. HNSCC were reported in 112 FA literature cases (5%), and 9 (8%) in the cohort. The oropharynx was the initial site for HNSCC in 31/112 literature cases (28%) and 3/9 NCI cases (33%). With regard to DC, 51/647 (8%) cases in the literature had cancer, as did 9 of 94 (10%) NCI participants. HNSCC were reported in 21/647 (3%) DC literature cases, and in 5/94 (5%) from the NCI cohort. Four of the 21 HNSCC (19%) in the literature were oropharyngeal, and 2/5 (40%) in the NCI cohort. The cumulative incidences of any HNSCC in the NCI FA and DC cohorts were 50% and 21% by 40 years of age (censored at death from other causes). Conclusions: Patients with FA and DC have extremely high risks of HNSCC at substantially younger ages than the general population. Approximately 30% of these cancers occur in the oropharynx. The HPV vaccine could be important in prevention of these cancers. Future studies of the HPV status of oral cavity and oropharynx HNSCC tumors from patients with FA and DC will be informative.