ABSTRACT
Survivors of childhood cancers are at increased risk of developing secondary gastrointestinal cancers, including colorectal cancer, later in life, possibly from exposure to abdominopelvic radiotherapy and/or alkylating chemotherapy. Profuse gastrointestinal polyposis is associated with rare, inherited colorectal cancer predisposition syndromes, most commonly caused by mutations in the adenomatous polyposis coli (APC) or mutY homolog (MUTYH) genes. We describe 5 patients who developed gastrointestinal polyposis many years after radiotherapy and chemotherapy for a childhood cancer. Genetic analysis of all 5 subjects did not identify pathogenic germline mutations in APC or MUTYH. Chemotherapy and/or radiotherapy therefore might cause gastrointestinal polyposis in some patients by undiscovered mechanisms.
Subject(s)
Antineoplastic Agents/adverse effects , Intestinal Polyposis/chemically induced , Neoplasms/therapy , Radiotherapy/adverse effects , Adenomatous Polyposis Coli Protein/genetics , Adolescent , Adult , Antineoplastic Agents/therapeutic use , DNA Glycosylases/genetics , Female , Genotype , Humans , Infant , Male , Middle Aged , Young AdultABSTRACT
A 62-year-old Malaysian woman presented with a constellation of skin signs including alopecia, hyperpigmentation and nail dystrophy. On questioning, a history of diarrhoea, taste disturbance and weight loss was found. The onset of these changes coincided with the administration of thyroxine prescribed for a benign multinodular goitre. Hormonal investigations showed no abnormality and no underlying malignancy was found. Investigation of the diarrhoea showed a protein-losing enteropathy with generalized intestinal polyposis and non-specific histology. A diagnosis of Cronkhite-Canada syndrome was made. Treatment with prednisone and nutritional support has been partially effective.
