Tumor syndromes

Question 1

What is peutz jegher’s syndrome?

Answer 1

Features

• Mucocutaneous pigmentation
• Intestinal polyposis (hamartomas)
• Significant risk of GIT malignancy

Genetics

• AD
• 50% no Fhx suggesting high spontaneous mutation rate

Significant risk of malignancy

• 50% develop malignancy
• GIT tumors (15%) of adenomas, adenocarcinomas
• Extra GIT tumors (35%) of lung / thyroid / gall bladder / bilary tree / breast / pancreas / cervix / overly / sertoli cell testicular tumours

Management

• surveillance
• counselling

Question 2

What is juvenile colonic polyps (retention or inflammatory polyp)?

Answer 2

Most common childhood GI tutor

• peak 2-10y, uncommon >15y
• thought to carry little or no malignant potential as left untreated, most polyps outgrow their own blood supply and self-amputates

Genetics

• juvenile polyposis is the autosomal dominant form
• > 3-5 polyps
• Has associated anomalies
• far high cancerous risk

Presentation

• Painless rectal bleeding
• Can also present as intussusception

Question 3

What is Familial Adenomatous Polyposis?

Answer 3

Autosomal dominant

• 80-90% have mutation of APC gene on CHr 5q21
• Tumor suppressor gene, responsible for degrading B catenin

Presentation

• polyps in late 1st decade or in adolescence
• > 5 polyps
• 100% undergo malignant change
• Initially asymptomatic, then can have painless PR bleeding, abdominal cramps +/- diarrhoea

If positive family history +/- gene test

• 6-12 mostly colonoscopy until definitive surgical resection
• resection of all colonic mucosa and ileoanal anastomosis

Question 4

What is Gardener syndrome?

Answer 4

AD (specific APC region mutation)
Multiple polyps in adult life with extracolonic growth including:
- osteomas (in particular mandible)
- Soft tissue (lipomas, fibromas, sebaceous cysts)
- demoid tumors
- dental abnormalities and ocular funds pigmentation

Question 5

What is Turcot syndrome?

Answer 5

APC gene mutation
Primary brain tumour / medulloblastoma
Multiple colorectal polyps

(Think of Connor from CHOC)

Question 6

What is crankhite-canada syndrome?

Answer 6

GI polyposis
Alopecia
Pigmentation on palms / volar asp / fingers / dorsum of hand