Tumour Syndromes (from quick reference handbook for surgical pathologists) Flashcards
MEN I
Pituitary adenoma/hyperplasia
Parathyroid hyperplasia
Pancreatic endocrine neoplasm/islet cell tumour
Duodenal gastrin producing carcinoid
MEN IIA
Medullary thyroid carcinoma and C cell hyperplasia
Parathyroid hyperplasia
Phaeochromocytoma
MEN IIB
Medullary thyroid carcinoma and C cell hyperplasia
Phaeochromocytoma
Diffuse ganglioneuromatosis of GI tract
Marfanoid body habitus
Neurofibromatosis type 1
Neurofibromas esp plexiform type
Optic nerve glioma (pilocytic astrocytoma)
Other - ampullary somatostatinoma, gangliocytic paraganglioma, phaeochromocytoma, juvenile xanthogranuloma
Cafe au lait spots
Neurofibromatosis type 2
Bilateral acoustic schwannomas
Meningiomas
Spinal cord ependymomas
Cafe au lait spots
Tuberous sclerosis
PEComas (renal AML)
CNS: Cortical tubers, SEGA, white matter heterotopias
Cardiac rhabdomyoma
Sturge-Weber
Port wine stain/naevus flammeus in distribution of trigeminal nerve
Angiomatosis of ipsilateral leptomeninges
Phaeochromocytoma
von Hippel-Lindau
Clear cell RCC
Cysts of kidney/pancreas/liver
Hemangiomastomas (cerebellum, spinal cord, retina)
Phaeochromocytoma
Pancreatic endocrine neoplasm/islet cell tumour
Papillary cyst adenoma of epididymis/broad ligament
Birt-Hogg-Dube
Renal tumours (various types; hybrid oncocytoma/chromophobe highly specific)
Skin - facial fibrofolliculomas and skin tags
Lung cysts/spontaneous pneumothorax
Beckwith-Wiedemann
"overgrowth syndrome" - organomegaly, macroglossia Childhood neoplasia: - Wilms tumour - Hepatoblastoma - Pancreatoblastoma - Neuroblastoma
WAGR
Wilms tumour
Aniridia
Genitourinary abnormalities
Mental retardation
Denys-Drash
Wilms tumour
Gonadoblastoma
Diffuse meningeal sclerosis
McCune-Albright syndrome
Fibrous dysplasia of bone (polyostotic)
Cafe au lait spots
Endocrine abnormalities
Olliers disease
Multiple enchondromas
Increase risk chondrosarcoma
Maffucci syndrome
Multiple enchondromas
Soft tissue hemangiomas
Familial adenomatous polyposis
Intestinal adenomas
Fundic gland polyps
Thyroid tumours - cribriform modular variant of PTC
Gardners
FAP plus:
Soft tissue - fibromatosis, osteomas, nuchal fibroma, gardner fibroma
Skin lesions: Epidermoid cysts, pilomatrixomas
Dental abnormalities
Lynch (HNPCC)
Colorectal Ca
Endometrial Ca
Ovarian Ca
Other Ca: Stomach, pancreatobillary, urothelial, small bowel, brain, skin
Muir-Torre
Lynch syndrome related tumours plus:
Sebaceous adenoma/carcinoma
Keratoacanthoma
Peutz-Jeghers
GI polyps (harmatomatous)
GI malignancies (colon, pancreas, stomach, small intestine)
Reproductive organ tumours (esp adenoma malignum of uterine cervix, SCTAT, large cell calcifying sertoli cell tumour)
Other cancers: Breast, lung
Pigmented macules, esp lips
Hereditary breast/ovarian cancer (BRCA 1 & 2)
Breast cancer
Ovarian cancer - serous ca and tubal intraepithelial carcinoma
Other tumours: male breast cancer, prostate cancer, pancreatic cancer
Gorlin’s syndrome (nevoid basal cell carcinoma syndrome)
BCC (before age 20)
Odontogenic keratocyst of the jaw
Ovarian fibroma (bilateral, calcified)
Medulloblastoma
Li Fraumeni (p53 mutation)
Multiple tumours at young age - sarcoma, carcinoma, leukaemia, melanoma, glioma
Carney complex
Myxoid lesions: Cardiac myxoma, skin angiomyxoma, myxoid fibroadenoma of the breast
Pigmented and calcifying lesions: skin pigmentation, epithelioid blue naevus, pigmented adrenocortical hyperplasia, psommomatous melanotic schwannoma, large cell calcifying sertoli cell tumour
Endocrine: pituitary adenoma
Chondroid harmatoma
Carney triad
Paraganglioma
Pulmonary chondroma
Gastric epithelioid GIST
