Peitz-Jaegers syndrome
NewsThe appearance of coffee-colored pigmented spots in the area of the lips and the oral mucosa may indicate the presence of a rare cancer syndrome.
Patient M. at the age of 35 years with a diagnosis of multiple colon polyposis, colon cancer, turned to the doctor-geneticist of the Center for Personalized Medicine of the MCSC. Among the active complaints, there was general weakness, malaise, periodic abdominal pain and a violation of the stool for a long time.
A few months earlier, the patient found blood in the stool, after which she sought help in the polyclinic at the place of residence, where a colonoscopy revealed more than 50 colon polyps and suspected a malignant neoplasm. The patient reported that her mother died of colon cancer at the age of 40. On examination, I noticed a light porcelain skin with a lot of freckled pigmentation spots evenly distributed throughout the body, red hair color and a light shade of eyes. However, the accumulation of pigmentation in the lip area increased, they passed to the mucous membrane of the mouth and cheeks, where the size of the spots reached 5 mm in diameter. The patient came to the appointment with her own sister, who did not have such features.
Taking into account the examination data, the burdened family history of colon cancer and the detection of polyps during colonoscopy, the patient is suspected of Peitz-Jaegers syndrome, in this connection, our specialists recommended molecular genetic diagnostics to exclude the hereditary nature of the disease and developed an individual follow-up plan.
Peitz-Jaegers syndrome is a rare hereditary cancer syndrome that develops as a result of disorders in the structure of the STK11 gene. Classically, this syndrome is manifested by the accumulation of many coffee-colored pigment spots up to 5-7 mm in size. They are mainly located on the lips, the mucous membrane of the mouth, in some cases on the tips of the finger or feet and have been observed since childhood. The second feature of this syndrome is the presence of many polyps (benign neoplasms) of the gastrointestinal tract, which are capable of malignant transformation. The most common polyps are found in the small intestine, but can also occur in the stomach and colon. During life, they can ulcerate, bleed, cause intestinal intussusception and obstruction, which leads to a diagnosis before the age of 20 in 50% of patients.
It is known that in patients with Peitz-Jaegers syndrome, the risk of malignant neoplasms in various organs is several times higher than without a mutation in the STK11 gene. Patients with this syndrome need to draw up an individual plan for periodic monitoring, which necessarily includes colonoscopy, mammography, esophagogastroduodenoscopy, endoscopic examination of the small intestine, gynecological examination in women. In case of detection of suspicious polyps, experts recommend their endoscopic excision-polypectomy.
Given that the risks of inheritance of this feature are 50%, when a mutation is detected in a patient, it is recommended to consult a geneticist and conduct molecular genetic diagnostics in his relatives for timely provision of specialized medical care.
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