Peutz-Jeghers syndrome is a congenital cancer syndrome.
Some common characteristics used to diagnose this syndrome include:
Pigmented mucocutaneous macules
Susceptibility to cancer
Gastrointestinal polyposis
Patients with Peutz-Jeghers syndrome have an increased risk of developing gastrointestinal (GI) cancers of the colorectal, pancreatic, and gastric organs, as well as a wide range of non-GI epithelial malignancies, including breast, uterine, and cervical cancers, lung cancer, and tumors of the ovaries and testes.
Colorectal cancer is the most prevalent kind of cancer, with a lifetime risk of 39%. The breast cancer lifetime risk for females ranges between 32%-54%. Females with Peutz-Jeghers syndrome are additionally at risk for gynecological cancers such as “benign ovarian sex cord tumors with annular tubules” and mucinous ovarian and fallopian tube tumours.
Males with Peutz-Jeghers syndrome are susceptible to testicular Sertoli cell tumors, which frequently secrete estrogen and are hormonally active. They display gynecomastia, accelerated bone age, and fast growth accompanied by short stature. As individuals with Peutz-Jeghers syndrome are more susceptible to developing other cancers, vigilant observation is advised.
Epidemiology
Peutz-Jeghers syndrome is not a very common disorder. Only 1 individual is affected between 25,000-300,000 births. The syndrome can manifest in any ethnic group, with boys and females being equally afflicted. 42 is the average age for developing this cancer. Individuals who have Peutz-Jeghers syndrome are at a higher risk for developing a host of other cancers.
Anatomy
Pathophysiology
Peutz-Jeghers syndrome is a hereditary syndrome. It is typically caused by mutations in the STK11 (LKB1) gene on chromosome 19p13.3. The tumor suppressor gene STK11 controls cell polarity.
The gene encodes serine/threonine kinase 11, which plays a crucial role in cell cycle regulation. In 50% to 80% of families with PJS, mutations in STK11 are found. In other patients, this syndrome probably occurs due to de novo genetic mutations.
Etiology
When germline STK11 mutations are coupled with an acquired abnormality in the 2nd STK11 allele in somatic cells, Peutz-Jeghers syndrome appears clinically. The STK11/LKB1 gene works as a tumor suppressor and plays a crucial role in cell cycle regulation.
Genetics
Prognostic Factors
A heightened risk of developing other cancers is associated with Peutz-Jeghers syndrome, so regular screening is recommended.
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Peutz-Jeghers syndrome is a congenital cancer syndrome.
Some common characteristics used to diagnose this syndrome include:
Pigmented mucocutaneous macules
Susceptibility to cancer
Gastrointestinal polyposis
Patients with Peutz-Jeghers syndrome have an increased risk of developing gastrointestinal (GI) cancers of the colorectal, pancreatic, and gastric organs, as well as a wide range of non-GI epithelial malignancies, including breast, uterine, and cervical cancers, lung cancer, and tumors of the ovaries and testes.
Colorectal cancer is the most prevalent kind of cancer, with a lifetime risk of 39%. The breast cancer lifetime risk for females ranges between 32%-54%. Females with Peutz-Jeghers syndrome are additionally at risk for gynecological cancers such as “benign ovarian sex cord tumors with annular tubules” and mucinous ovarian and fallopian tube tumours.
Males with Peutz-Jeghers syndrome are susceptible to testicular Sertoli cell tumors, which frequently secrete estrogen and are hormonally active. They display gynecomastia, accelerated bone age, and fast growth accompanied by short stature. As individuals with Peutz-Jeghers syndrome are more susceptible to developing other cancers, vigilant observation is advised.
Peutz-Jeghers syndrome is not a very common disorder. Only 1 individual is affected between 25,000-300,000 births. The syndrome can manifest in any ethnic group, with boys and females being equally afflicted. 42 is the average age for developing this cancer. Individuals who have Peutz-Jeghers syndrome are at a higher risk for developing a host of other cancers.
Peutz-Jeghers syndrome is a hereditary syndrome. It is typically caused by mutations in the STK11 (LKB1) gene on chromosome 19p13.3. The tumor suppressor gene STK11 controls cell polarity.
The gene encodes serine/threonine kinase 11, which plays a crucial role in cell cycle regulation. In 50% to 80% of families with PJS, mutations in STK11 are found. In other patients, this syndrome probably occurs due to de novo genetic mutations.
When germline STK11 mutations are coupled with an acquired abnormality in the 2nd STK11 allele in somatic cells, Peutz-Jeghers syndrome appears clinically. The STK11/LKB1 gene works as a tumor suppressor and plays a crucial role in cell cycle regulation.
A heightened risk of developing other cancers is associated with Peutz-Jeghers syndrome, so regular screening is recommended.
medtigo
Peutz–Jeghers Syndrome
Updated :
June 6, 2022
Peutz-Jeghers syndrome is a congenital cancer syndrome.
Some common characteristics used to diagnose this syndrome include:
Pigmented mucocutaneous macules
Susceptibility to cancer
Gastrointestinal polyposis
Patients with Peutz-Jeghers syndrome have an increased risk of developing gastrointestinal (GI) cancers of the colorectal, pancreatic, and gastric organs, as well as a wide range of non-GI epithelial malignancies, including breast, uterine, and cervical cancers, lung cancer, and tumors of the ovaries and testes.
Colorectal cancer is the most prevalent kind of cancer, with a lifetime risk of 39%. The breast cancer lifetime risk for females ranges between 32%-54%. Females with Peutz-Jeghers syndrome are additionally at risk for gynecological cancers such as “benign ovarian sex cord tumors with annular tubules” and mucinous ovarian and fallopian tube tumours.
Males with Peutz-Jeghers syndrome are susceptible to testicular Sertoli cell tumors, which frequently secrete estrogen and are hormonally active. They display gynecomastia, accelerated bone age, and fast growth accompanied by short stature. As individuals with Peutz-Jeghers syndrome are more susceptible to developing other cancers, vigilant observation is advised.
Peutz-Jeghers syndrome is not a very common disorder. Only 1 individual is affected between 25,000-300,000 births. The syndrome can manifest in any ethnic group, with boys and females being equally afflicted. 42 is the average age for developing this cancer. Individuals who have Peutz-Jeghers syndrome are at a higher risk for developing a host of other cancers.
Peutz-Jeghers syndrome is a hereditary syndrome. It is typically caused by mutations in the STK11 (LKB1) gene on chromosome 19p13.3. The tumor suppressor gene STK11 controls cell polarity.
The gene encodes serine/threonine kinase 11, which plays a crucial role in cell cycle regulation. In 50% to 80% of families with PJS, mutations in STK11 are found. In other patients, this syndrome probably occurs due to de novo genetic mutations.
When germline STK11 mutations are coupled with an acquired abnormality in the 2nd STK11 allele in somatic cells, Peutz-Jeghers syndrome appears clinically. The STK11/LKB1 gene works as a tumor suppressor and plays a crucial role in cell cycle regulation.
A heightened risk of developing other cancers is associated with Peutz-Jeghers syndrome, so regular screening is recommended.
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