Background: Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by dwarfism and a predisposition to cancer. Squamous cell vaginal cancer is also quite rare and has not before been reported in association with BS.
Case: A 37-year-old woman, para 0-0-2-0, with BS was referred to the gynecologic oncology service for a suspicious mass in the vagina associated with dyspareunia and vaginal bleeding. Previous biopsies were consistent with high grade vaginal dysplasia, however, thorough surgical evaluation ultimately demonstrated stage II vaginal cancer. After consultation with a gynecologic oncologist and radiation oncologist, an adjuvant treatment plan was created for external beam radiation with cisplatin potentiation followed by intracavitary brachytherapy.
Conclusion: BS is an excellent model of human cancer in general. These patients are diagnosed with cancers at an earlier age and higher rate than is the general population, but the distribution of cancer type seems to be similar to that in the general population. Treatment of cancers in this population is largely similar to that of the general population. There is no known treatment to decrease the occurrence of neoplasia in BS patients other than strict adherence to all known cancer surveillance screening modalities.