Tumor Syndromes Flashcards
Tuberous Sclerosis
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
Osler-Weber-Rendu Syndrome
AD
Inherited disorder of blood vessels - telangiectasia, recurrent epistaxis, skin discoloration, AV malformations
Neurofibromatosis Type I (von Recklinghausen’s Disease)
AD
Chromosome 17
Cafe-au-lait spots, neural tumors, Lisch nodules, scoliosis, optic pathway gliomas, pheochromocytomas
Neurofibromatosis Type II
AD
Chromosome 22
Bilateral acoustic schwannomas, juvenile cataracts
von Hippel Lindau Disease
AD
Chromosome 3
Hemangioblastomas of retina/cerebellum/medulla, bilateral renal cell carcinoma, pheochromocytoma
WAGR Complex
Wilms’ tumor (nephroblastoma), Aniridia, Genitourinary malformation, mental Retardation
Beckwith-Wiedemann Syndrome
Wilms’ tumor, neonatal hypoglycemia, muscular hemihypertrophy, organomegaly
Sturge-Weber Syndrome
Congential disorder - port-wine stains, ipsilateral leptomeningeal angioma, pheochromocytoma, glaucoma, seizure, hemiparesis, mental retardation
MEN type 1
Parathyroid tumor (hypercalcemia) Pancreatic tumor (gastrin) Pituitary adenoma (prolactin, ACTH)
MEN type 2A
Medullary carcinoma of the thyroid (calcitonin)
Pheochromocytoma
Parathyroid tumor
MEN type 2B
Medullary carcinoma of the thyroid (calcitonin)
Pheochromocytoma
Marfanoid habitus/Mucosal neuromas