tumor syndromes

Question 1

Brooke-Spiegler

Answer 1

CYLD gene
spiroadenoma, cylindroma, trichoepithiolioma, multiple BCCs
**may develop salivary and parotid gland tumors

Question 2

Birt Hogg Dube Syndrome

Answer 2

AD
BHD gene
fibrofolliculoma, trichodiscoma, acrochordons

**may develop renal cell cancer and spontaneous recurrent pneumothorax with lung cysts and bullous emphysema

Question 3

Syndromes a/w multiple BCCs

think burger XS BRG XS

Answer 3

Brooke spiegler 
Bazex-Dupre-Christol 
Rombo 
Gorlin
Xeroderma Pigmentosum 
Schopf Schulz Passarge

Question 4

Basal Cell Nevus Syndrome

Answer 4

AD
PTCH gene defect

Major Criteria: 
BCC (> 2 BCCs and 1 by age 20) 
palmoplantar pits 
odonktogenic keratocysts of the jaw 
calcification of the falx cerebri 
medulloblastoma 

Minor Criteria: 
rib abnormalities (bifid) 
cleft lip/palate 
pectus excavatum/carinatum 
macrocephaly 
ovarian fibroma 
cardiac fibroma 
ocular issues 
lymphomesenteric cysts 

Diagnosis based on 1 major + molecular confirmation, 2 major, or 1 major + 2 minor

Question 5

MEN

Answer 5

MEN 1 - AD, MEN1 gene, parathyroid/pituitary/pancreas

MEN2a “sipple”- AD, RET gene, parathyroid/thyroid/pheochromocytoma

MEN2b - AD, RET gene, mucosal neuromas/marfans/thyroid/pheochromocytoma

In both MEN2a/2b - it is medullary thyroid cancer

mucosal neuroma on tongue/lips, eyes

Question 6

Cowden syndrome

Answer 6

AD
PTEN mutation (same as Bannayan-Riley-Ruvalcaba), these share similar findings
presents with multiple hamartomas

[[e.g. tricholemmoma, sclerotic fibroma, punctate palmoplantar keratoses, keratotic papules, cobblestone on lips and oral mucosa, follicular thyroid carcinoma, breast adenocarcinoma, GI polyps (benign, on colon), endometrial carcinoma, craniomegaly]]

subtype: LHERMITTE-DUCLOS DISEASE -> p/w overgrowth of cerebellar ganglion cells, and thus ataxia, seizures, increased ICP; pathognomonic for Cowden’s disease

Question 7

Gardner syndrome

Answer 7

AD
APC gene defect
p/w epidermoid cysts, fibroma, lipoma, GI polyps –> become GI adenocarcinomas, eyes (congenital hypertrophy of retinal pigment epithelium), osteomas, papillary thyroid carcinoma

subtype: TURCOT SYNDROME -> brain tumors (glioblastoma, medulloblastoma)