GONC

Question 1

Lynch Syndrome

Answer 1

• Autosomal dominant inheritance
• Mutations in DNA mismatch repair genes (tumour suppressor genes) lead to inadequate expression and function of their proteins
• increased risk of endo, ovarian, stomach, small intestine, hepatobilisry, ureteric, brain and skin cancer

Amsterdam criteria:
- 3 cases of cancer in family
- 2 consecutive generations
- 1 tumour at < 50 yo
1 should be a first degree relative of the other 2

Management:
- Risk- reducing surgery with TLH + BSO from age 40 or 5 years below the sentinel family cancer event
- If fertility desired- aspirin + mirena OR COCP until family complete
- HRT if no contraindications until she of menopause
- refer to colorectal for 2- yearly colonoscopy from age 25

Question 2

BRCA1 and BRCA2 genes

Answer 2

Tumour suppressor genes
Autosomal dominant inheritance
BRCA genes account for 10-15% of all ovarian cancers

Question 3

Endometrial cancer and radiation

Answer 3

Primary treatment:
- for medically unfit; inoperable disease

Adjuvant treatment:
- intermediate to high risk disease
- can ve vault vs external beam

Recurrent disease:
- vaginal recurrences in radiation- naive patient

Palliation:
- to control PV bleeding

Question 4

Side effects of radiation

Answer 4

Think ‘itis’

Acute toxicity:
- associated with shedding of mucosal membrane of tissues
- cystitis, vaginitis, proctitis, enteritis

Late toxicity:
- changes in the stroma of tissues
- stenosis, adhesions, fistula, sexual dysfunction, reduced QoL, chronic pain

Question 5

Risk of further molar pregnancy in the future

Answer 5

1:70

Incidence of GTD in general population is 1: 200- 1000 pregnancies with ethnic variation

Question 6

Diagnostic criteria for GTN

Answer 6

• when HCG plateaus for 4 measurements over 3 weeks OR
• when HCG rise on 3 consecutive weekly measurements over a period of 2 weeks OR
• histopathologic diagnosis of choriocarcinoma