Tumor syndromes Flashcards

1
Q

What is peutz jegher’s syndrome?

A

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
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2
Q

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

A

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
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3
Q

What is Familial Adenomatous Polyposis?

A

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
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4
Q

What is Gardener syndrome?

A

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

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5
Q

What is Turcot syndrome?

A

APC gene mutation
Primary brain tumour / medulloblastoma
Multiple colorectal polyps

(Think of Connor from CHOC)

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6
Q

What is crankhite-canada syndrome?

A

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

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