Hereditary Cancer Syndromes

Question 1

Von Recklinghousens

Answer 1

Neurofibromas, Lisch nodules, cafe au lait spots.

Chromosome 17, NF1 (tumor suppressor gene: RAS GTPase activating protein)

Question 2

Leser Trelat

Answer 2

Lots of seborrheic keratosis. Colon Cancer

Question 3

NF2

Answer 3

Bilateral Schwannomas,

Question 4

Sturge Weber

Answer 4

V1, V2 port wine stain (angioma), leptomeningeal angioma. Associated with MR, seizures, hemiplagia, tram tracks on skull xray.

Question 5

Tuberous Sclerosis

Answer 5

Hamartomas in kidney, liver, pancreas cysts, mitral regurt. Ash leaf spots.
Renal angiomyolipoma, subependymal tumors in ventricles, cardiac rhabdomyomas

Question 6

Osler Weber Rendu

Answer 6

Hereditary hemorrhagic telangiectasias. epistasis, GI bleeding, hematuria

Question 7

Von Hippel Lindau

Answer 7

Capilar hemangioblastomas in retina and cerebellum. Chromosome 3

Question 8

Neuroblastoma

Answer 8

Tumor of neural crest cells and can occur anywhere along the sympathetic china. It is firm, irregular mass that can cross the midline (vs wilms tumor which is smooth and unilateral).
2yo, retroperitoneal mass, HTN, anorexia. Can metastasize dumbbell into epidural space. Increased catecholamines in urine, Nmyc amplification, paraneoplastic syndromes opsoclonus, myoclonus, truncal ataxia

Question 9

Paraneoplastic syndromes of neuroblastoma

Answer 9

opsoclonus, myoclonus, truncal ataxia