Genetics

Question 1

MEN 1 Syndrome

Answer 1

1. Hyperparathyroidism
2. Pancreatic NET [Gastrinoma, Glucagonoma, Insulinoma, VIPoma]
3. Pituitary adenomas [Prolactinoma, Cushing’s disease, Acromegaly]
4. Bronchial/Thymic NET
   *Can also have NET of the adrenal gland, multiple lipomas, and cutaneous angiomas.

Question 2

MEN 2A Syndrome

Answer 2

1. Medullary thyroid cancer
2. Pheochromocytoma
3. Hyperparathyroidism
   *Can also have lichen planus, amyloidosis and Hirschsprung’s disease

Question 3

MEN 2B Syndrome

Answer 3

1. Medullary thyroid cancer
2. Pheochromocytoma
3. Marfanoid habitus
4. Intestinal Ganglioneuromas
   *Can also have mucosal neuromas of the lips and tongue, medullated corneal nerve fibers, ectopic lenses, enlarged lips and inability to cry tears.

Question 4

Most common associated mutation with uveal melanoma and cutaneous melanoma

Answer 4

Uveal- BAP1
Cutaneous- CDKN2A, CDK4 (also associated with pancreatic)

Question 5

FAP screenings and age of screenings

Answer 5

– Upper endoscopy including complete visualization of the ampulla of Vater starting at around 20-25 years of age.

– Thyroid Ultrasound started in teens and repeated ultrasound every 2-5 years if normal

– Colonoscopies:
a. For classic FAP, guidelines recommend yearly colonoscopies starting at age 10 and continuing until your colectomy.
b. For AFAP, yearly screenings should begin by age 20.

– CT or MRI for dermoid tumor screenings

Question 6

Birt–Hogg–Dubé syndrome:
Inheritance and common associated malignancies/conditions

Answer 6

– Inheritance: AD (FCLN gene)
– Develop pulmonary cysts/blebs and tumors of the hair follicles
This syndrome predisposes a patient to develop several kinds of kidney cancer:
– Chromophobe
– Hybrid Oncocytic tumors
– Clear cell
– Oncocytomas
– Angiomyolipomas
– Papillary Renal cell

Question 7

BRCA1 vs BRCA 2

Answer 7