Chapter 7: Tumor syndromes Flashcards Preview

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1

MEN1
(Wermer syndrome)

Autosomal dominant activation of MEN1 (chr 11q13).

Pituitary adenoma (or hyperplasia)
Parathyroid hyperplasia
Pancreatic endocrine neoplasms

2

MENIIA
(Sipple syndrome)

Autosomal dominant activation of RET (chr 10q11)

Medullary thyroid carcinoma
Parathyroid hyperplasia
Pheochromocytoma

3

MENIIb (III)
(Gorlin syndrome)

Autosomal dominant activation of RET (Chr 10q11)

Medullary thyroid carcinoma
Pheochromocytoma
Diffuse ganglioneuromatosis of the GI tract
Marfanoid body habitus

4

Neurofibromatosis type I
(von Recklinghausen disease, peripheral neurofibromatosis)

AD loss of neurofibromin (Chr 17q11.2)

Neurofibromas (especially plexiform, diffuse, MPNST)
Optic nerve gliomas (pilocytic astrocytoma)
Cafe au lait spots, lisch nodules
Ampullary somatostatinoma, duodenal paraganglioma, GIST, pheochromocytoma, JXGA

5

Neurofibromatosis type II
(Central/acoustic neurofibromatosis)

AD/sporadic loss of Merlin (chr 22q12)

Bilateral acoustic schwannomas
Meningiomas
Spinal cord ependymomas
Cafe au lait spots but no lisch nodules

6

Tuberous sclerosis
(Bourneville's disease)

AD loss of TSC1 (Hamartin, 9p34) or TSC2 (Tuberin, 16p13)

PEComas (renal AML, pulmonary LAM)
CNS: Cortical tubers, SEGA
Cardiac rhabdomyoma
Skin: Angiofibroma, periungual fibroma, shagreen & ash-leaf patches

7

Sturge-Weber

Unknown cause

Port-wine stain (Nevus flammeus) in trigeminal nerve distribution
Pheochromocytoma
Leptomeningeal angiomatosis

8

Von Hippel-Lindau

AD loss of VHL (3p25)

Clear cell RCC
Hemangioblastoma (cerebellar, spinal, retinal)
Pheochromocytoma
Multiple liver/pancreas/kidney cysts
Clear cell pancreatic islet cell tumor
Papillary cystadenomas
Endolymphatic sac tumor of the ear (Heffner)

9

Birt-Hogg-Dube

AD loss of BHD/folliculin (17p11.2)

Renal tumors (RCCs, oncocytomas, hybrids)
Facial fibrofolliculomas and skin tags
Lung cysts/blebs

10

Beckwith-Wiedemann

Sporadic or AD duplication of paternal 11p15.

Overgrowth (hemihypertrophy, macroglossia, organomegaly)
Childhood neoplasms: Wilm's, hepatoblastoma, pancreatoblastoma, neuroblastoma.

11

WAGR

Somatic deletion of WT1 (11p13)

Wilms tumor
Aniridia
GU abnormalities
Retardation

12

Denys-Drash

Somatic WT1 point mutation (11p13)

Wilms tumor (more than WAGR)
Gonadoblastoma
Diffuse mesangial sclerosis

13

Hereditary papillary renal cell cancer

AD MET (7q34)

Multiple bilateral PRCCs (type I)

14

Hereditary leiomyoma and renal cell carcinoma

AD fumarate hydratase (1q42-43)

PRCC (type 2) and leiomyomas with distinct cytologic features.

15

McCune-Albright

GNAS1 mosaicism (20q13)

Fibrous dysplasia of bone
Cafe au lait spots
Endocrine abnormalities: Precocious puberty, gigantism, cushing's, thyrotoxicosis

16

Mazabraud's syndrome

Somatic activating GNAS1 (20q13)

Fibrous dysplasia
Soft tissue myxoma

17

Ollier's syndrome

Somatic PTH1R(?) (3p21-22)

Multiple enchondromas (enchondromatosis)
Increased risk of chondrosarcomas

18

Maffucci syndrome

Somatic PTH1R mutations (?) (3p21-22)

Multiple enchondromas (enchondromatosis)
Soft tissue hemangiomas
Increased risk of chondrosarocma+angiosarcoma

19

Familial adenomatous polyposis

APC (5p21)

Intestinal adenomas (requires colectomy to avoid CRC)
PTC, cribriform-morular variant
Juvenile nasopharyngeal angiofibromas

20

Gardner's syndrome

APC (5p21)

All features of FAP, as well as:
Soft tissue tumors (Fibromatosis, osteomas, nuchal fibroma)
Skin lesions (Epidermoid cysts, pilomatricomas)
Dental abnormalities: Unerupted teeth, supernumerary teeth

21

Turcot's syndrome

PMS2! (kind of FAP, kind of HNPCC)

All features of FAP, as well as:
Meduloblastomas

22

HNPCC
(mutations & frequency only)

hMLH1 (40%) - 3p21
*more often sporadic*

hMSH2 (40%) - 2p22

hMSH6 (10%) - 2p16.3

PMS2 (5%) - 7p22.1

EPCAM (5%)
*affects MSH2*

23

HNPCC

(tumors)

Colorectal (80%)

Endometrium (60%)

Ovary (12%)

Stomach, pancreatobiliary, small bowel

Upper tract urothelial (with inverted growth)

Brain

Skin (sebaceous adenomas, keratoacanthomas)

24

MYH-associated polyposis (MAP)

AutRec MYH (Y165C, G382D)

Like an attenuated FAP (fewer polyps, extracolonic features).

25

Hereditary diffuse gastric cancer syndrome

AutDom CDH1 (loss of E-cadherin via promoter hypermethylation)

Diffuse gastric cancer, lobular breast cancer. 

26

Peutz-Jegher syndrome

AutDom STK11/LKB1 (19p13)

GI hamartomatous polyps, GI malignanies

Reproductive organ malignancies (Adenoma malignum of uterine cervix, SCTAT, large cell calcifying sertoli cell tumor)

Breast, lung

Mucocutaneous pigmented macules

27

Juvenile polyposis

AutDom SMAD4/DPC4, PTEN, or BMPR1A

Multiple juvenile polyps involving the entire GI tract.

28

Cronkhite-Canada

Non-familial. Unknown cause?

GI polyposis; hyperplastic in stomach and cystically dilated and edematous elsewhere. CRC-associated.

Alopecia, macular skin hyperpigmentation, nail dystrophy

29

Ruval-Caba-Myrhe-Smith

(Bannayan-Riley,Ruvalcaba)

AutDom PTEN (10q23)

GI: Hamartomatous polyps

Lipomas, hemangiomas

Macrocephaly

30

Hereditary breast and ovarian cancer

(both types)

BRCA1 (17q21): Breast (especially medullary) and ovarian (STICs)

BRCA2 (13q): Breast, ovarian, male breast/prostate, pancreas