Tumour Syndromes (from quick reference handbook for surgical pathologists)

Question 1

MEN I

Answer 1

Pituitary adenoma/hyperplasia
Parathyroid hyperplasia
Pancreatic endocrine neoplasm/islet cell tumour
Duodenal gastrin producing carcinoid

Question 2

MEN IIA

Answer 2

Medullary thyroid carcinoma and C cell hyperplasia
Parathyroid hyperplasia
Phaeochromocytoma

Question 3

MEN IIB

Answer 3

Medullary thyroid carcinoma and C cell hyperplasia
Phaeochromocytoma
Diffuse ganglioneuromatosis of GI tract
Marfanoid body habitus

Question 4

Neurofibromatosis type 1

Answer 4

Neurofibromas esp plexiform type
Optic nerve glioma (pilocytic astrocytoma)
Other - ampullary somatostatinoma, gangliocytic paraganglioma, phaeochromocytoma, juvenile xanthogranuloma
Cafe au lait spots

Question 5

Neurofibromatosis type 2

Answer 5

Bilateral acoustic schwannomas
Meningiomas
Spinal cord ependymomas
Cafe au lait spots

Question 6

Tuberous sclerosis

Answer 6

PEComas (renal AML)
CNS: Cortical tubers, SEGA, white matter heterotopias
Cardiac rhabdomyoma

Question 7

Sturge-Weber

Answer 7

Port wine stain/naevus flammeus in distribution of trigeminal nerve
Angiomatosis of ipsilateral leptomeninges
Phaeochromocytoma

Question 8

von Hippel-Lindau

Answer 8

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

Question 9

Birt-Hogg-Dube

Answer 9

Renal tumours (various types; hybrid oncocytoma/chromophobe highly specific)
Skin - facial fibrofolliculomas and skin tags
Lung cysts/spontaneous pneumothorax

Question 10

Beckwith-Wiedemann

Answer 10

"overgrowth syndrome" - organomegaly, macroglossia
Childhood neoplasia:
- Wilms tumour
- Hepatoblastoma
- Pancreatoblastoma
- Neuroblastoma

Question 11

WAGR

Answer 11

Wilms tumour
Aniridia
Genitourinary abnormalities
Mental retardation

Question 12

Denys-Drash

Answer 12

Wilms tumour
Gonadoblastoma
Diffuse meningeal sclerosis

Question 13

McCune-Albright syndrome

Answer 13

Fibrous dysplasia of bone (polyostotic)
Cafe au lait spots
Endocrine abnormalities

Question 14

Olliers disease

Answer 14

Multiple enchondromas

Increase risk chondrosarcoma

Question 15

Maffucci syndrome

Answer 15

Multiple enchondromas

Soft tissue hemangiomas

Question 16

Familial adenomatous polyposis

Answer 16

Intestinal adenomas
Fundic gland polyps
Thyroid tumours - cribriform modular variant of PTC

Question 17

Gardners

Answer 17

FAP plus:
Soft tissue - fibromatosis, osteomas, nuchal fibroma, gardner fibroma
Skin lesions: Epidermoid cysts, pilomatrixomas
Dental abnormalities

Question 18

Lynch (HNPCC)

Answer 18

Colorectal Ca
Endometrial Ca
Ovarian Ca
Other Ca: Stomach, pancreatobillary, urothelial, small bowel, brain, skin

Question 19

Muir-Torre

Answer 19

Lynch syndrome related tumours plus:
Sebaceous adenoma/carcinoma
Keratoacanthoma

Question 20

Peutz-Jeghers

Answer 20

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

Question 21

Hereditary breast/ovarian cancer (BRCA 1 & 2)

Answer 21

Breast cancer
Ovarian cancer - serous ca and tubal intraepithelial carcinoma
Other tumours: male breast cancer, prostate cancer, pancreatic cancer

Question 22

Gorlin’s syndrome (nevoid basal cell carcinoma syndrome)

Answer 22

BCC (before age 20)
Odontogenic keratocyst of the jaw
Ovarian fibroma (bilateral, calcified)
Medulloblastoma

Question 23

Li Fraumeni (p53 mutation)

Answer 23

Multiple tumours at young age - sarcoma, carcinoma, leukaemia, melanoma, glioma

Question 24

Carney complex

Answer 24

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

Question 25

Carney triad

Answer 25

Paraganglioma
Pulmonary chondroma
Gastric epithelioid GIST