A case of bladder cancer in a young woman with Angelman syndrome suggests a potential association between these two conditions.
Reported by East Tennessee State University researchers, the case was described in “Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome,” published in Case Reports in Urology.
The patient, a 22-year-old woman with Angelman syndrome, was referred to the hospital with a four-month history of premenstrual nausea, vomiting, and abdominal pain. She had been hospitalized previously due to the same symptoms and elevated levels of white blood cells, which were attributed to a stomach virus.
She had a family history of pancreatic and ovarian cancers affecting non-first-degree relatives, but no reports of malignancies affecting the urinary tract.
A full examination using ultrasound imaging and cystourethroscopy — a method that allows doctors to see inside the bladder — revealed the presence of a 1.5 centimeter lesion on the sidewall of the bladder. Further tissue biopsy analysis confirmed the patient had a low-grade urothelial carcinoma and low risk of spreading.
The lesion was removed completely upon surgery.
Urothelial bladder carcinoma is most common in patients older than 60. Only 1 to 2.4 percent of all cases occur in patients younger than 40 years of age, and 0.1 to 0.4 percent in patients younger than 20. Moreover, this type of cancer affects more men than women, which is explained, in part, by a potential contribution of male-sex hormones.
Younger people often have a delayed diagnosis of urothelial carcinoma due to a low suspicion of cancer and an inclination to do more invasive testing.
Supported by these well-recognized epidemiological characteristics, this particular case represents a rare event of bladder cancer. Given that, the researchers believe it may suggest a potential association between Angelman syndrome and this particular cancer.
A review had been performed in the past to see if there could be a genetic link between Angelman syndrome and urothelial carcinoma. One case reported a patient with low-grade noninvasive papillary urothelial carcinoma who also had genetic deletions affecting chromosome regions 7q, 9q, and 15q. This deletion in chromosome 15q potentially could be a link to Angelman syndrome as chromosome 15q11-13 is involved in this imprinting disorder. Still, this association has yet to be proven.
“More research is needed in order to fully understand the differences and similarities between urothelial carcinoma in younger and older patients,” the researchers stated. “This future research can help to determine who would be more likely to develop urothelial carcinoma earlier in life and also helps dictate treatment in younger individuals to prevent recurrence and progression of disease,” they said.