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A man who has been diagnosed with cancer 167 times over 15 years is still undergoing treatment — and his ordeal is not simply a matter of bad luck. He has a rare genetic disorder called Fanconi anemia that leaves him highly vulnerable to the disease.
The British tabloid The Sun reported May 31 on the case of Sean Breininger, 47. Over the past 15 years, his diagnoses have included throat cancer twice, bladder cancer, esophageal cancer, oral cancer 15 times and skin cancer 150 times. He is currently receiving treatment after cancer was recently found near his jaw as well.
"It's hard enough to be diagnosed with cancer once, but when you realize you're going to keep getting it, it completely wears you out — body and mind," he said.
Breininger lives with a cancer risk estimated at 750 times that of the general population. The cause is Fanconi anemia, the rare genetic condition driving his repeated diagnoses.
Fanconi anemia is a rare hereditary disorder that causes bone marrow failure, leaving the body unable to produce sufficient red blood cells, white blood cells and platelets. According to South Korea's Rare Disease Helpline, the condition is estimated to affect approximately one in every 360,000 people.
In patients with Fanconi anemia, damaged DNA cannot be repaired normally. When the responsible genes malfunction, DNA damage accumulates inside cells, reducing blood cell production or triggering the proliferation of abnormal cells. The impaired ability to repair chromosomal damage significantly raises the risk of a wide range of malignancies, including leukemia, myelodysplastic syndrome, head and neck cancers, esophageal cancer and gynecological cancers.
Symptoms typically become apparent in infancy or early childhood, and about 75 percent of patients have congenital physical abnormalities. These can include low birth weight, short stature, microcephaly, heart and kidney defects, skeletal malformations and café-au-lait spots on the skin. Some patients also present with thumb deformities or hearing loss.
Treatment depends on the patient's condition and the stage of the disease, and may include steroids, androgen therapy or blood transfusions. In cases of severe bone marrow failure or disease progression, doctors may consider hematopoietic stem cell transplantation.
Because patients with Fanconi anemia face an elevated risk of leukemia and myelodysplastic syndrome, they should undergo blood tests at least every three to four months and a bone marrow examination once a year.
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