Tumor Syndromes

Question 1

Tuberous Sclerosis

Answer 1

AD
Facial lesions (adenoma sebaceum), ash-leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas, increased incidence of astrocytomas, mitral regurgitation

Question 2

Osler-Weber-Rendu Syndrome

Answer 2

AD

Inherited disorder of blood vessels - telangiectasia, recurrent epistaxis, skin discoloration, AV malformations

Question 3

Neurofibromatosis Type I (von Recklinghausen’s Disease)

Answer 3

AD
Chromosome 17
Cafe-au-lait spots, neural tumors, Lisch nodules, scoliosis, optic pathway gliomas, pheochromocytomas

Question 4

Neurofibromatosis Type II

Answer 4

AD
Chromosome 22
Bilateral acoustic schwannomas, juvenile cataracts

Question 5

von Hippel Lindau Disease

Answer 5

AD
Chromosome 3
Hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinoma, pheochromocytoma

Question 6

WAGR Complex

Answer 6

Wilms’ tumor (nephroblastoma), Aniridia, Genitourinary malformation, mental Retardation

Question 7

Beckwith-Wiedemann Syndrome

Answer 7

Wilms’ tumor, neonatal hypoglycemia, muscular hemihypertrophy, organomegaly

Question 8

Sturge-Weber Syndrome

Answer 8

Congential disorder - port-wine stains, ipsilateral leptomeningeal angioma, pheochromocytoma, glaucoma, seizure, hemiparesis, mental retardation

Question 9

MEN type 1

Answer 9

Parathyroid tumor (hypercalcemia)
Pancreatic tumor (gastrin)
Pituitary adenoma (prolactin, ACTH)

Question 10

MEN type 2A

Answer 10

Medullary carcinoma of the thyroid (calcitonin)
Pheochromocytoma
Parathyroid tumor

Question 11

MEN type 2B

Answer 11

Medullary carcinoma of the thyroid (calcitonin)
Pheochromocytoma
Marfanoid habitus/Mucosal neuromas