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Cancer Genetics UAMS
Cancer Genetics for Genetic Counselors -2nd Test
| Question | Answer |
|---|---|
| De novo rate of NF1 | 50% |
| Characteristics of NF1 | Optic gliomas, Rhabdomyosarcoma, Pheochromocytomas, Brain tumors, Juvenile chronic myelogenous leukemia, Macrocephaly, Lisch nodules, epilepsy, MR |
| Diagnostic criteria of NF1 | 6 or more cafe au lait spots - different sizes >5mm and >15mm 2 or more neurofibromas or 1 or more plexiform neurofibromas Axillary or inguinal freckling Optic Glioma 2 or more Lisch Nodules A distict bony lesion 1st degree relative with NF1 |
| De novo rate of NF2 | 50% |
| Clinical features of NF2 | Vestibular Schwannomas, meningiomas, spinal tumors, skin tumors, cafe au lait patch, cataracts, ependymoma, astrocytoma, optic sheath, Dizziness, deafness, meningiomas. |
| Diagnostic criteria of NF2 | Bilateral 8th cranial nerve mass, 1st degree relative with NF2 and unilateral 8th cranial nerve mass or any 2 of the following: Neurofibroma, meningioma, glioma, schwannomak, Juvenile posterior subcapsular lenticular opacity. |
| De novo rate of TS | 70% |
| Major Characteristics of TS | Angiofibromas or forehead plaque, Ungual or periungual fibromas, >3 hypomelanotic macules (ash leaf), Shagreen patch, Multiple retinal nodular hamartomas, Cortical tuber, subependymal nodule or giant cell astrocytoma, Cardiac rhabdomyoma, |
| Minor Characteristics of TS | Dental pits, Hamartomatous rectal polyps, bone cysts, Cerebral white matter migration lines, gingival fibromas, Nonrenal hamartomas, Retinal achromic patch, "confetti" skin lesions, Multiple renal cysts. |
| De novo rate in VHL | 1 - 3% |
| Clinical features of VHL | Clear cell RCC, retinal angioma, cerebellar and spinal cord hemangioblastoma, pheochromocytoma, pancreatic cysts, islet cell/neuroendocrine tumors, Epididymal cystadenoma, endolymphatic sac tumor |
| Diagnostic criteria of VHL - One of the following | CNS and Retnal hemangioblastomas. And at least one of the following; multiple renal, pancreatic or hepatic cysts, pheos, renal cell carcinoma. Or 1 or more relatives with VHL and a proband with above list. |
| Nevoid Basal Cell Carcinoma syndrome - Gorlin de novo rate: | 20-30%. |
| Major criteria for NBCCS | Basal cell cancers, Palmar Pits, jaw cysts, calcification of falx. |
| Minor criteria for NBCCS | Bifid ribs/vertebrae. Macrocephaly, Cardiac or ovarian fibroma, medulloblastoma, lymphomesenteric or pleural cysts, Cleft lip/palate, polydactyly, eye anomalies. |
| Clinical features of Werner syndrome | Premature aging, short stature, cataracts, atherosclerotic disease, osteoporosis, scleroderma-like skin, thin, gray hair, adult onset diabetes. |
| Werner syndrome mode of inheritance | Autosomal Recessive |
| Associated neoplasms of Werner syndrome | Osteosarcoma, sarcoma, Melanoma, Thyroid cancer (follicular), Hematologic malignancies, Benign meningiomas. |
| Blue Rubber Bleb Nevus Syndrome characteristics | Characteristic skin hemangiomas, hemangiomas in the eye, uterus and other organs, Can cause bleeding, breathing problems and impaired vision. Cerebellar hemangiomas |
| MEN1 de novo rate: | 10% |
| What is the classic triad? | Parathyroid 90%, pituitary 10-60%, pancreas (gastro-entero-pancreatic tract)40% |
| Major cancer risks in MEN1 | Duodenum, pancreas, lungs and thymus. |
| Males have an increased cancer risk in MEN1 for? | Thymus cancer, especially if they smoke. |
| Females have an increased cancer risk in MEN1 for? | Bronchial |
| MEN1 interesting findings: | Hyperparathyroidism, Hypercalcemia, Prolactinoma, Facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, leiomyomas. |
| Sporadic MTC | Unifocal, Later age of onset, C-cell hyperplasia is rare or absent, No family history, No associated endocrinopathies |
| Hereditary MTC | Multifocal, early age of onset, C-Cell hyperplasia present, family history in some cases, Associated MEN2A and B endocrinopathies. |
| MEN2A clinical disease characteristics | Medullary thyroid carcinoma 95%-100% - bilateral, Pheochromocytoma 50%, Hyperparathyroidism 15%-30%. |
| MEN2B clinical disease characteristics | Early onset MTC, Pheochromocytomas, Mucosal neuromas, ganglioneuromatosis, Marfanoid phenotype, Megacolon. |
| Familial Medullary Thyroid Carcinoma characteristics | 4 or more members with MTC, NO pheos or parathyroid disease. |
| RET Proto-Oncogenes and MEN2B | Missense mutation in exon16 found in 95% of cases. |
| MEN2B de novo rate | 50% of the time. |
| Carney Complex clinical features: 2 of 12 needed | Spooty skin pigmentation, Myxoma, Cardiac myxoma, Breast myxomatosis, Cushing syndrome, Acromegaly, Testicular neoplasms, Thyroidneoplams, Melanotic Schwannoma, Blue nevi, Breast ductal adenomas, Osteochondromyxoma. |
| Interesting tid bit on Herediatary Paraganglioma | Imprinting effects from Fathers not mothers. |
| Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT) | Parathyroid adenoma or carcinoma, Ossifiying fibroma of mandible or maxilla, Renal cyts, adenomas, carcinomas. PARATHYROID CARCINOMAS |
| Hereditary Paraganglioma | carotid body tumors and glomus tumors. Pheos. |
| Risk Factors for Renal Cancer | Cigarettes, Males 2 to 1, Analgesic, Hypertension, Pre-existing Kidney Disease, Family Hx of renal cancer. Obesity. |
| Hereditary Papillary renal Cell Carcinoma | Proto-Oncogene c-MET |
| Birt-Hogg-Dube syndrome | AD. Triad: fibrofolliculomas trichodiscomas and acrochordons, multiple lung cysts, renal cell carcinomas (chromophobe and oncocytomas) |
| Wilms tuumor | Denys-Drash, WAGR, Beckwith-Wiedemann, Simpson-Golabi-Behmel, Familial Wilms. |
| Denys-Drash syndrome | Male pseudohermaphroditism, Wilms tumor, Progressive renal failure |
| WAGR stands for? | Wilms tumor, Aniridia, Genitourinary defects, Retardation |
| Beckwith-Wiedemann syndrome characteristics | Macroglossia, Organomegaly, Neonatal hypoglycemia, Ear creases, embryonal tumors, Hemihypertrophy. |
| Simpson-Golabi-Behmel syndrome method of inheritance | X-linked |
| Simpson-Golabi-Behmel syndrome characteristics | Wilms tumor, Hepatocellular carcinoma, Neuroblastoma, Testicular Gonadoblastoma. |
Created by:
btkosewski
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