Tumour Syndromes Flashcards
Carney Triad
GIST (esp. epithelioid gastric GIST)
Pulmonary chondroma
Paraganglioma
(non-familial, SDHC hypermethylation)
BRCA1
Autosomal dominant
Breast cancer (IBC with medullary features)
Serous carcinomas of the ovary
BRCA2
Autosomal dominant
Breast cancer Male breast cancer Serous carcinomas of the ovary Prostate Pancreas
Syndromes associated with breast cancer
BRCA 1 BRCA 2 Li-Fraumeni (TP53) Cowden's / PTEN hamartoma tumour syndrome Peutz-Jeugher (STK11) Hereditary diffuse gastric cancer (CDH1) Ataxia telangiectasia
Syndromes Associated with CRC
Lynch Syndrome (variants: Turcot, Muir -Torre)
Familial Adenomatous Polyposis FAP (variants: Turcot, Gardner)
Sessile serrated polyposis syndrome
Peutz-Jegher syndrome
Juvenile polyposis
Syndromes Associated with Gastric Cancer
Lynch Syndrome
FAP
Peutz-Jegher syndrome
CDH1 mutation (hereditary diffuse gastric cancer)
Syndromes Associated with Renal Neoplasms
VHL - Clear cell RCC
BAP1 hereditary disposition syndrome - CCRCC
Birt-Hogg-Dube - Hybrid oncocytomas - chromophobe
HLRCC - FH deficient RCC
Carney-Stratakis syndrome - SDH deficient RCC
Hereditary papillary RCC (MET) - papillary RCC
WAGR, Denys-Drasch, Beckwith-Wiedeman - Wilms
Syndromes Associated with Bone Tumours
McCune Albright:
Non familial, GNAS, fibrous dysplasia (polyostotic)
Mazabraud:
Non familial, GNAS, fibrous dysplasia
Ollier disease:
Non familial, Multiple enchondromas
Mafucci syndrome:
Non familial, Multiple enchondromas plus haemangiomas (spindle cell)
Multiple hereditary exostoses:
Familial, osteochondromas
DICER1 syndrome
AD, DICER1
Pleuropulmonary blastoma Cystic nephroma Sertoli-Leydig cell tumours MNG Other: gyandroblastoma, pituitary blastoma
BAP1 Hereditary Predisposition Syndrome
AD, BAP1
Uveal and skin melanoma
Mesothelioma
Clear cell RCC
BCC
Features of Cowden Syndrome
AD, PTEN
Multiple neoplasms and hamartomas of endo, ecto or mesodermal origin
GI: polyps of any kind incl. mucosal lipoma, neuromas
Breast: >50% lifetime risk, often bilateral
Skin: trichilemmomas, vitiligo, cafe au lait spots, epidermoid cysts
Soft tissue: lipomas, neurofibromas, leiomyomas, haemangiomas, lymphangiomas
Other: thyroid, RR, merkle cell carcinoma, lymphoma, melanoma, meningioma
Carney-Stratakis Syndrome
AD, SDHA, SDHB, SDHC, SDHD
Paragangliomas / Phaemochromocytoma
GIST (epithelioid, gastric, children / YA)
SDH deficient RCC
Pituitary adenomas (rarely)
Carney Complex (Syndrome)
AD, PRKARIA.
“LAMB” think pigment, myxomas, endocrine
- Lentigenes
- Atrial myxomas, skin myxomas, myxoid fibroadenomas
- Pigmented and calcifying lesions
- epithelioid blue naevus
- large cell calcifying Sertoli cell tumour
- malignant melanotic nerve sheath tumour
- pigmented nodular adrenal cortical hyperplasia
- Endocrine hyperactivity
- GH / PRL producing pituitary adenomas
Tuberous Sclerosis Complex
TSC1 / TSC2
- PECOMAS
- renal AML, pulmonary LAM & clear cell tumour
- CNS
- cortical tubers
- white matter heterotopia
- SEGA
- Cardiac rhabdomyoma
- Skin
- periungual fibromas
- angiofibromas
- connective tissue naevi
- Eosinophilic and cystic RCC
MEN1
AD, MEN1 (menin) - 3 P’s
Pituitary adenoma
Parathyroid hyperplasia
Pancreatic NET’s
MEN2A
AD, RET - 2P’s 1M
Medullary thyroid carcinoma (100%) & C Cell hyperplasia
Parathyroid hyperplasia (50%)
Phaeochromocytoma (50%)
MEN2B
AD, RET - 1P, 2M’s, 1G
Medullary thyroid carcinoma (85%) & C Cell hyperplasia
Phaeochromocytoma (50%)
Diffuse ganglioneuromatosis of GIT (100%)
Marfanoid body habitus
MEN4
AD, CDKN1B
Similar to MEN1
NE hyperplasia / tumours in pituitary, parathyroid, pancreas
NE tumours at other sites (cervix, bronchus, stomach)
NF1
AD or sporadic, NF1 (neurofibromin)
Multiple neurofibromas, plexiform neurofibromas
Optic nerve gliomas (pilocytic astrocytoma)
Other: Ampullary somatostatinoma Duodenal gangliocytic paraganglioma (COGNET) GIST Phaeochromocytoma Juvenile xanthogranuloma
Non neoplastic:
Cafe au lait sponts
Lisch nodules (iris)
Skeletal lesions
NF2
AD or sporadic, NF2 (merlin)
Bilateral acoustic schwannomas
Meningiomas (may be multiple)
Spinal cord ependymomas
Cafe au lait spots
Features of FAP
AD, CTNNB1 mutations / Wnt Pathway
GIT:
Innumerable adenomas of large and small bowel
Fundic gland polyps (with dysplasia)
Soft tissue:
Gardner fibroma, nuchal fibroma
Desmoid fibromatosis
Osteomas
Other:
Cribriform morular thyroid neoplasm
Juvenile nasopharyngeal angiofibroma
Variant - Gardner (unerupted and supernumerary teeth, epidermoid cysts and pilomatrixoma)
Variant - Turcot (medulloblastoma)
Lynch Syndrome / HNPCC
HNPCC = clinical criteria (Amsterdam) met Lynch = confirmed germline mutation in MMR
Colorectal carcinoma (80% lifetime risk) Endometrium (60% lifetime risk) Ovary (12%) Stomach Small bowel Pancreaticobiliary Urothelial neoplasms of upper tract
Variant (Muir Torre) - sebaceous neoplasms and keratoacanthomas
Variant (Turcot) GBM
Peutz Jegher Syndrome
AD, STK 11
Hamartomatous polyps (SI, colon, stomach)
HPV independent adenocarcinoma of cervix (gastric)
Sex cord tumour with annular tubules
Large cell calcifying Sertoli cell tumour
Pigmented macules on lips / mucosae
Increased risk of malignancy:
Colon, pancreas, stomach, small intestine
Ovary, endometrium, cervix, breast
Testis, lung
VHL Syndrome
AD, VHL gene
Clear cell RCC Haemangioblastoma Phaeochromocytoma (clear cell change) Serous cystadenoma of pancreas PanNET (clear cell change) Endolymphatic sac tumour of ear Papillary cystadenoma of epididymis and broad ligament
Birt-Hogg-Dube
Multiple RCC’s of various types
Hybrid oncocytomas - chromophobe RCC
Fibrofolliculomas and skin tags
Lung cysts and spontaneous basal PTX
