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Q1 What are the recommended surveillance strategies for Peutz-Jeghers syndrome patients?

What are the recommended surveillance strategies for patients with Peutz-Jeghers syndrome, considering the high prevalence of small bowel polyps and the associated risks of complications such as intussusception, bowel obstruction, and gastrointestinal bleeding?

 

The recommended surveillance strategies for patients with Peutz-Jeghers syndrome (PJS) are designed to address the high prevalence of small bowel polyps and the associated risks of complications such as intussusception, bowel obstruction, and gastrointestinal bleeding. The US Multi-Society Task Force on Colorectal Cancer recommends baseline small bowel surveillance using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) between ages 8 and 10 years or earlier if the patient is symptomatic. If no polyps are found at the initial examination, surveillance should resume at age 18 years. In adulthood, small bowel surveillance should continue every 2?3 years throughout life due to the ongoing risk of intussusception.[1]
Additionally, the American Gastroenterological Association suggests that upper gastrointestinal endoscopy (EGD) and colonoscopy be performed at age 8 years. If polyps are found, these examinations should be repeated every 3 years. If no polyps are found, a second baseline examination should be done at age 18 years, followed by surveillance every 3 years thereafter.[2]
These recommendations are based on expert consensus and retrospective data, emphasizing the importance of early and regular surveillance to prevent complications and manage polyp burden effectively.

1.

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Boland CR, Idos GE, Durno C, et al. Gastroenterology. 2022;162(7):2063-2085. doi:10.1053/j.gastro.2022.02.021.

2.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes.

Syngal S, Brand RE, Church JM, et al. The American Journal of Gastroenterology. 2015;110(2):223-62; quiz 263. doi:10.1038/ajg.2014.435.

3.

Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ GeneReviews® [Internet]. Updated 2021 Sep 2.

Peutz-Jeghers Syndrome: Diagnostic and Therapeutic Approach.

Kopacova M, Tacheci I, Rejchrt S, Bures J. World Journal of Gastroenterology. 2009;15(43):5397-408. doi:10.3748/wjg.15.5397.

What are the common age groups for the onset of small bowel polyps in Peutz-Jeghers syndrome patients?

 

Question 2

What are the common age groups for the onset of small bowel polyps in Peutz-Jeghers syndrome patients?

Answer 2

The common age groups for the onset of small bowel polyps in patients with Peutz-Jeghers syndrome (PJS) are typically in childhood, with recommended surveillance starting between ages 8 and 10 years. This recommendation is based on the guidelines from the US Multi-Society Task Force on Colorectal Cancer, which suggests initiating small bowel surveillance using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) at this age range. The rationale for this early surveillance is to detect and manage polyps before they cause complications such as intussusception, bowel obstruction, or gastrointestinal bleeding. If no polyps are found at the initial examination, repeat surveillance is recommended at age 18 years, and then every 2-3 years throughout adulthood.[1]

American Gastroenterological Association

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer  Published June 2022

Question 3

What are the risks associated with delaying small bowel surveillance in Peutz-Jeghers syndrome patients?

Expanded question: What are the risks associated with delaying small bowel surveillance in patients with Peutz-Jeghers syndrome, considering the high prevalence of small bowel polyps and the potential complications such as intussusception, bowel obstruction, and gastrointestinal bleeding?

Answer 3

Delaying small bowel surveillance in patients with Peutz-Jeghers syndrome (PJS) significantly increases the risk of complications such as intussusception, bowel obstruction, and gastrointestinal bleeding. The US Multi-Society Task Force on Colorectal Cancer recommends initiating small bowel surveillance using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) between ages 8 and 10 years, or earlier if the patient is symptomatic, due to the high prevalence of small bowel polyps in PJS patients. [1]
Intussusception is a primary complication, with a median age of first occurrence at 16 years, and 50% of first episodes presenting by age 20 years. Delaying surveillance can lead to acute abdomen presentations, often necessitating emergency surgical interventions. Additionally, gastrointestinal bleeding from polyps can cause significant anemia and require multiple blood transfusions or surgeries.[2]
Regular surveillance is crucial to detect and manage polyps early, thereby preventing these severe complications. The American Gastroenterological Association also emphasizes the importance of early and regular surveillance to reduce the need for emergency surgeries and improve patient outcomes. [2]
In summary, timely and regular small bowel surveillance is essential in PJS patients to mitigate the risks associated with the high prevalence of small bowel polyps and their potential complications.

1.

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Boland CR, Idos GE, Durno C, et al. Gastroenterology. 2022;162(7):2063-2085. doi:10.1053/j.gastro.2022.02.021.

2.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes.

Syngal S, Brand RE, Church JM, et al.  The American Journal of Gastroenterology. 2015;110(2):223-62; quiz 263. doi:10.1038/ajg.2014.435

Question 3

What are the most effective early intervention strategies for small bowel polyps in Peutz-Jeghers syndrome?

Answer 4

The most effective early intervention strategies for managing small bowel polyps in patients with Peutz-Jeghers syndrome (PJS) focus on regular surveillance and timely polypectomy to prevent complications such as intussusception, bowel obstruction, and gastrointestinal bleeding. The US Multi-Society Task Force on Colorectal Cancer recommends initiating small bowel surveillance using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) between ages 8 and 10 years, or earlier if the patient is symptomatic.[1]
Polypectomy is recommended for small bowel polyps that are symptomatic or ?10 mm in size to prevent these complications.[1] Endoscopic techniques, such as double-balloon enteroscopy (DBE), are preferred for the removal of larger polyps, as they allow for both detection and therapeutic intervention.[1] This approach reduces the need for emergency surgical interventions and helps manage the polyp burden effectively.
Additionally, the American Gastroenterological Association suggests that during laparotomy for intussusception, a “clean sweep” approach using intraoperative endoscopy with polypectomy or enterotomy should be employed to clear the small intestine of significant polyps, thereby decreasing the need for recurrent surgeries.[1]
These strategies are justified by the high prevalence of small bowel polyps in PJS patients and the significant risk of complications if polyps are not managed early and effectively. Regular surveillance and timely intervention are crucial to improving patient outcomes and preventing severe complications.

American Gastroenterological Association

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer Published June 2022

Peutz-Jeghers Syndrome (PJS) – TCV MCQs

L1 (Basic)

L1 Question 1:
Which gene mutation is associated with Peutz-Jeghers Syndrome (PJS)?
A) APC
B) STK11
C) BRCA1
D) TP53

Correct Answer: B) STK11
Comments: The STK11 gene mutation is responsible for Peutz-Jeghers Syndrome and plays a critical role in tumor suppression.
?Peutz-Jeghers syndrome is caused by mutations in the STK11 (LKB1) gene, a tumor suppressor gene located on chromosome 19.? Radiopaedia

L1 Question 2:
What type of polyps are most characteristic of PJS?
A) Hyperplastic polyps
B) Adenomatous polyps
C) Hamartomatous polyps
D) Inflammatory polyps

Correct Answer: C) Hamartomatous polyps
Comments: Hamartomatous polyps are a defining feature of PJS, characterized by disorganized tissue resembling normal elements of the GI tract.
?Peutz-Jeghers syndrome is characterized by hamartomatous polyps, which consist of disorganized but non-neoplastic tissue.? Radiopaedia

1.
Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ GeneReviews® [Internet]. Updated 2021 Sep 2.

2.
Update on Imaging of Peutz-Jeghers Syndrome.

Tomas C, Soyer P, Dohan A, et al. World Journal of Gastroenterology. 2014;20(31):10864-75. doi:10.3748/wjg.v20.i31.10864.

3.
Clinics in Diagnostic Imaging. 159. Jejunal Intussusception Due to Peutz-Jeghers Syndrome.

Krishnan V, Chawla A, Wee E, Peh WC. Singapore Medical Journal. 2015;56(2):81-5; quiz 86. doi:10.11622/smedj.2015022.

4.
Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Boland CR, Idos GE, Durno C, et al. Gastroenterology. 2022;162(7):2063-2085. doi:10.1053/j.gastro.2022.02.021.

L1 Question 3:
Which of the following is a hallmark cutaneous feature of PJS?
A) Port-wine stain
B) Pigmented macules on lips and oral mucosa
C) Café-au-lait spots
D) Angiomas

Correct Answer: B) Pigmented macules on lips and oral mucosa
Comments: Mucocutaneous pigmentation is a hallmark finding, with dark macules around the lips and oral mucosa being classic.
?Mucocutaneous pigmentation, often around the lips, oral cavity, and digits, is a key feature of PJS.? Radiology Key

The presence of pigmented macules on the lips and oral mucosa in patients with Peutz-Jeghers syndrome (PJS) is a significant clinical feature that aids in the early diagnosis of the condition. These macules, which are dark blue to dark brown, typically appear in childhood and are found around the mouth, eyes, nostrils, perianal area, and on the buccal mucosa. [1-2]
The significance of these pigmented macules lies in their role as an early and distinctive marker of PJS, often preceding gastrointestinal symptoms such as intussusception and complications from hamartomatous polyps. Recognizing these mucocutaneous pigmentations can prompt early surveillance and management of gastrointestinal polyps, thereby reducing the risk of complications like small bowel intussusception, which is common in PJS due to the presence of hamartomatous polyps.[1-2]
Early identification of these macules is crucial, especially in individuals with a de novo pathogenic variant of the STK11 gene, as these skin findings often appear before gastrointestinal manifestations.[1] This early diagnosis allows for timely intervention and surveillance, which is essential in managing the increased cancer risk associated with PJS.[2]
In summary, the pigmented macules on the lips and oral mucosa are not only a hallmark of PJS but also serve as an important diagnostic clue that can lead to early detection and management of the syndrome’s gastrointestinal and oncological complications.
Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ GeneReviews® [Internet]. Updated 2021 Sep 2.

2.
Update on Imaging of Peutz-Jeghers Syndrome.

Tomas C, Soyer P, Dohan A, et al. World Journal of Gastroenterology. 2014;20(31):10864-75. doi:10.3748/wjg.v20.i31.10864.

Additional Question
Are there other syndromes presenting with pigmented macules on the lips and oral mucosa?
  1. Laugier-Hunziker syndrome (LHS). LHS is a rare, benign pigmentary disorder characterized by diffuse pigmented macules of the oral mucosa and lips, often accompanied by longitudinal melanonychia (pigmented bands on the nails). Unlike PJS, LHS does not have systemic associations or an increased risk of malignancy
  2. Addison’s disease, which can present with hyperpigmentation of the oral mucosa due to increased melanocyte-stimulating hormone (MSH) levels secondary to adrenal insufficiency. However, Addison’s disease typically has other systemic symptoms such as fatigue, weight loss, and hypotension, which help differentiate it from PJS and LH
  3. Carney complex can present with pigmented lesions on the lips and oral mucosa, along with other features such as cardiac myxomas, endocrine tumors, and skin pigmentation.[5]

 

L1 Question 4:
Which part of the gastrointestinal tract is most commonly affected in Peutz-Jeghers Syndrome?
A) Colon
B) Small Intestine
C) Esophagus
D) Rectum

Correct Answer: B) Small Intestine
Comments: Hamartomatous polyps are most common in the small intestine, particularly the jejunum.
?Peutz-Jeghers syndrome predominantly affects the small intestine, especially the jejunum.? Radiopaedia

These polyps are most frequently found in the jejunum, followed by the ileum and duodenum.[3]
Polyps can also occur in other parts of the gastrointestinal tract, including the stomach and large bowel, but their prevalence is highest in the small intestine.[3-4]

1.
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes.

Syngal S, Brand RE, Church JM, et al. The American Journal of Gastroenterology. 2015;110(2):223-62; quiz 263. doi:10.1038/ajg.2014.435.

2.
3. Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ GeneReviews® [Internet]. Updated 2021 Sep 2.

 

 

4.
Peutz-Jeghers Syndrome With Intermittent Upper Intestinal Obstruction: A Case Report and Review of the Literature.

Duan SX, Wang GH, Zhong J, et al.

Medicine. 2017;96(17):e6538. doi:10.1097/MD.0000000000006538.

L1 Question 5:
True or False: Peutz-Jeghers Syndrome increases the risk of both gastrointestinal and non-gastrointestinal cancers.

Correct Answer: True
Comments: PJS significantly raises the risk for multiple malignancies, including GI, breast, pancreatic, and testicular cancers.
?Peutz-Jeghers syndrome carries an increased risk for gastrointestinal cancers, as well as breast, pancreatic, and ovarian malignancies.? Radiopaedia

L2 (Advanced)

L2 Question 6:
Which imaging modality is most sensitive for detecting small bowel polyps in PJS?
A) MRI Enterography
B) CT Abdomen and Pelvis
C) Small Bowel Follow-Through
D) PET-CT

Correct Answer: A) MRI Enterography
Comments: MRI enterography is the preferred modality for detecting small bowel pathology, particularly polyps and intussusception.
?MRI enterography is particularly effective in detecting small bowel polyps in Peutz-Jeghers syndrome.? Radiopaedia

L2 Question 7:
A patient with PJS presents with acute abdominal pain and vomiting. What is the most likely cause?
A) Peptic ulcer disease
B) Small bowel intussusception
C) Colonic obstruction
D) Appendicitis

Correct Answer: B) Small bowel intussusception
Comments: Small bowel intussusception is a classic complication in PJS due to polyps acting as lead points for bowel invagination.
?Intussusception due to a lead point polyp is a common complication in Peutz-Jeghers syndrome.? Radiopaedia

L2 Question 8:
Which imaging finding is characteristic of intussusception in PJS on a barium small bowel follow-through?
A) Coiled spring sign
B) Apple core lesion
C) Lead pipe appearance
D) Target sign

Correct Answer: A) Coiled spring sign
Comments: The coiled spring sign reflects intussusception with bowel telescoping and contrast trapped between layers.
?The coiled spring sign in barium studies represents intussusception, with telescoping bowel loops.? Radiopaedia

L2 Question 9:
What is the primary management strategy for asymptomatic polyps in PJS?
A) Immediate polypectomy
B) Surveillance endoscopy and imaging
C) Empirical chemotherapy
D) No intervention unless symptomatic

Correct Answer: B) Surveillance endoscopy and imaging
Comments: Regular surveillance prevents complications and ensures early cancer detection in PJS patients.
?Surveillance endoscopy and imaging are recommended for early detection of complications in Peutz-Jeghers syndrome.? Radiology Key

L2 Question 10:
Which of the following are potential complications of Peutz-Jeghers Syndrome? (Select all that apply)
A) Intussusception
B) GI bleeding
C) Colorectal cancer
D) Hepatocellular carcinoma

Correct Answers: A) Intussusception, B) GI bleeding, C) Colorectal cancer
Incorrect Answer: D) Hepatocellular carcinoma
Comments: While PJS is associated with colorectal cancer, it is not typically linked with hepatocellular carcinoma.
?Peutz-Jeghers syndrome is associated with colorectal and GI cancers but not primary liver malignancies.? Radiopaedia