Syndromes

Question 1

Gardner syndrome

Answer 1

Autosomal dominant subtype of FAP
(APC gene), located in chromosome 5q21
Desmoid tumors. Extraintestinal lesions (bone tumors, sebaceous cysts, and desmoid)

Question 2

Leriche syndrome

Answer 2

Aortoiliac occlusive disease

1. claudication of the buttocks and thighs
2. absent or decreased femoral pulses
3. erectile dysfunction

Question 3

Li-Fraumeni

Answer 3

(p53 mutation) Associated with breast Ca, sarcomas, brain tumors, leukemia, and adrenocortical malignancies

Question 4

Cowden syndrome

Answer 4

(PTEN mutation) Associated with breast Ca, mucocutaneous lesions, thyroid cancer, and endometrial cancer

Question 5

Ataxia telangiectasia

Answer 5

(mutation in ‘ATM’ gene) Associated with breast Ca, cerebellar and neuromotor deterioration, lymphoma, and leukemia

Question 6

Muir-Torre syndrome

Answer 6

(mutations in MLH1 and MSH2) Associated with breast Ca, multiple skin tumors, benign and malignant tumors of the gastrointestinal and genitourinary tracts

Question 7

Beckwith-Wiedemann syndrome

Answer 7

Genetics not clear:
Macroglossia
Macrosomia
Microcephaly
Midline abdominal wall defects:(omphalocele/exomphalos, umbilical hernia, diastasis recti),
Ear creases or pits
Neonatal hypoglycemia
Hepatoblastoma (Not associated with breast cancer)

Question 8

Peutz-Jegher syndrome

Answer 8

Hamartomatous polyps/Polyposis of the intestinal tract (mostly small bowel)
Melanotic lesions around mouth, rectum, et al.
50% risk death from cancer by age 50
GI cancer is increased 13-fold and 9-fold due to other malignancies
Mutation in the STK11/LKB1 -functions as a tumour suppressor

Question 9

Hamartomatous polyps with?

Answer 9

Juvenile Polyps
Peutz-Jegher’s Syndrome
Cronkite-Canada Syndrome
Cowden’s Syndrome

Question 10

Crokhite-Canada Syndrome

Answer 10

Hamartomatous GI polyps
Alopecia 
Pigmentation
Nail atrophy
Diarrhea
Vomiting
Protein loss

Question 11

Multiple endocrine neoplasia type 1 (MEN1)

Answer 11

Autosomal dominant
3 Ps
-Pituitary
-Parathyroid 
-Pancreas (and duodenum NETs)

Question 12

Multiple endocrine neoplasia (MEN) 2a

Answer 12

Medullary thyroid
Pheochromocytoma
Primary hyperparathyroidism
Other
-cutaneous lichen amyloidosis
-Hirschsprung

Question 13

Multiple endocrine neoplasia (MEN) 2b

Answer 13

Medullary thyroid
Pheochromocytoma
Mucosal neuromas (lips and tongue)
MTC more aggressive. Early thyroidectomy