What Is Peutz-Jeghers Syndrome?
Peutz-Jeghers syndrome is mainly characterized by chronic abdominal pain and melanocytic pigmentation and is often ignored in some individuals. This can potentially lead to the development of life-threatening cancers. Peutz-Jeghers syndrome is a hamartomatous gastrointestinal disease most commonly prevalent in the small intestine. But there can also be an extra-intestinal involvement as in the bronchi of the lungs, the gallbladder, the nasal cavity passageway, the renal tubules, or the urinary bladder and ureter.
These hamartomatous polyps make the individual predisposed to cancerous lesions or instead pose a definitive risk if left untreated, paving the way for potential malignancies.
Gastrointestinal polyposis and pigmentation of mucocutaneous membranes is a main characteristic feature of Peutz-Jeghers syndrome. Though gastrointestinal polyposis mostly affects the jejunum part of the small intestine, the stomach and the large intestine also need to be checked diagnostically for the growth of polyps as it is not uncommon for them to grow there.
What Is the Role of Genetics In Peutz-Jeghers Syndrome?
The STK11 pathogenic variant is said to play an important role in the autosomal transmission of genes from the affected parent to the progeny. The proband identification of the STK11 gene in even one affected parent can make the genetic transmission chances of the child inheriting this variant (approximately around 50%) and, in turn, being affected by the Peutz-Jeghers syndrome again. Prenatal screening for expecting mothers in family members with a history of this syndrome can help identify the pathogenic component causing Peutz-Jeghers syndrome earlier.
Women are slightly more prone to this syndrome than men, and most people who are affected by this disease usually need surgical intervention by 18 to 21 years of age. Because of the predisposition to certain cancers, be it of the breasts, cervix, uterus, or ovaries, women affected by Peutz-Jeghers syndrome need immediate intervention to prevent the complications arising by timely intervention or surgical modalities.
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Cancer screening for susceptible or suspected individuals should be done especially in boys and girls as early as around eight years of age with the right diagnostic modality like endoscopy, colonoscopy, endoscopic ultrasound, and breast examination can prove very beneficial in preventing the continuing complication of Peutz-Jeghers syndrome mainly increasing the risk of these cancers (listed as per the approximate or estimated risk for these individuals to develop cancer):
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Breast cancer (most prevalent) ranges from 30 % to 50 %.
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Colon or rectal cancers range up to 40 %.
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Pancreatic cancer (the third most prevalent subtype for Peutz-Jeghers syndrome individuals) ranges from 10 % to 35 %.
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Stomach cancer range up to 30 %.
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Ovarian cancer range up to 20 %.
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Other cancers are small intestine cancer, cervical cancer, uterine cancer, testicular cancer, and lung cancers, usually ranging between 3 % to 13 % of the individuals chronically affected by Peutz-Jeghers syndrome.
What Are the Clinical Features and Prevalence of Peutz-Jeghers Syndrome?
The clinical features of this syndrome mainly include vomiting, frequent nausea, abdominal pain, and may be accompanied by rectal bleeding. This is caused due to the intestinal obstruction created by gastrointestinal polyp formation or hamartomas that start growing within the gastrointestinal tract. The affected individuals also, as mentioned previously, have been prone to the development of skin freckling or freckled skin (melanocyte macules) inside the oral, anal, orbital, and nasal cavities or around the fingers.
These clinical symptoms can be observed as early as in the first decade of life. A characteristic oral diagnosis by the dental surgeon in recognizing this syndrome is that even though in adulthood these macules tend to fade, they persist in the oral mucosal membranes. Similarly, young adults or children developing gynecomastia as a consequence of Sertoli cell or testicular tumors need to be assessed by the physician for other clinical features to identify this syndrome, or the later complications may be life-threatening and severe.
If the clinical features of Peutz-Jeghers syndrome are not recognized, it may result in testicular cancer in males (Sertoli cells of the testes would be impacted or affected by tumors) and benign neoplasms or benign tumors of the ovaries in females. Cases of cervical malignancies are also reported in females who have left Peutz-Jeghers syndrome untreated. Men also can be prone to the development of gynecomastia and short stature, affecting skeletal growth, age, and development in these individuals suffering from this syndrome.
Apart from gender-related complications that arise due to ignorance of the clinical symptoms of Peutz-Jeghers syndrome, the folding of the intestine into itself altering its morphology, also termed medically as intussusception, is a life-threatening medical emergency that requires surgical intervention almost immediately when the patient presents with severe abdominal pain.
How Are Peutz-Jeghers Syndrome Features Diagnosed?
MRE (magnetic resonance enterography) and VCE (video capsule endoscopy) are diagnostic surveillance techniques to confirm Peutz-Jeghers syndrome. Testicular examination in suspected male individuals and gynecologic and breast examination in females will be of paramount importance in preventing the aggravation of Peutz-Jeghers syndrome.
How Are the Symptoms of Peutz-Jeghers Syndrome Managed?
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Endoscopic surgery techniques and polypectomy or the surgical resection or removal of gastrointestinal polyps is the main modality to relieve the clinical symptoms of Peutz-Jeghers syndrome (for all polyps greater than 1 cm).
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Mastectomy or hysterectomy (cancer surgery for breast or uterus removal) is preferable for Peutz-Jeghers syndrome patients suffering from cancers. Similarly, ovarian cancers need to be treated by oophorectomy.
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As the brown and freckled skin, that is, the melanocytic pigmentation of macules, leaves a chronic psychological impact on the patient, laser surgery after consulting with the dermatologist would be appropriate in partially clearing the pigmentation.
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For prevention of cancers in those individuals who have remained unaffected by any of these malignancies, yearly examination by the physician or gynecologist with a Pap test, a biopsy from the uterine tissues or transvaginal ultrasound in females above 25 years, and testicular examination in males with testicular ultrasound beginning as early as possible in childhood is a useful cancer-preventive intervention.
Conclusion:
There is a need for individuals suffering from Peutz-Jeghers syndrome to undergo diagnostic screening for cancer and also trace the genetic component by the physician or from the family history of Peutz-Jeghers syndrome. These affected individuals can be promptly saved from the long-term psychosomatic impact on their health. Peutz-Jeghers syndrome, though a chronic medical condition, needs to be assessed in a timely surgical and preventive manner, especially after observing the clinical features to prevent the risk of aggravation to cancers and gastrointestinal complications that can increase the mortality rate in these individuals.
