Rare and Peds Cancer syndromes Flashcards
(49 cards)
what are the details/mechanisms of proto-oncogenes with cancer? ex?
MEN
dominant (1-hit) -> growth factors, kinases, transmembrane signaling
activated -> cancer
not inherited
what are the details/mechanisms of tumor suppressors with cancer? ex?
dominant (2 hit)
represses cancer
cancer action when lose
inherited or not
warning signs with hereditary pancreatic cancer?
risk factors?
when is panc considered familial?
abdominal pain, loss of appetite, jaundice, weight loss, nausea, changes in stool, recent-onset diabetes
FHx, diet, obesity, race, smoking, gender (more men), age, diabetes, pancreatitis
two or more F/SDRs
what pancreatic syndromes are associated with adenocarcinoma?
familal pancreativ, CDKN2A, BRCA1/2, Lynch, PALB2, STK11
what pancreatic syndromes are associated with neuroendocrine?
VHL, MEN1
what do we know about pancreatic cancer screening?
some argue that there’s limited medical management use
can include endoscopic U/S or MRI, ** no screening has been shown to reduce mortality
Nevoid basal cell carcinoma syndrome is also known as:
Gorlin syndrome
what are the characteristic features of Gorlin syndrome?
BCC beginning in 3rd decade
Jaw cysts (keratocysts)
macrocephaly, frontal bossing, coarse face
calcification of the falyx by age20y (90%)
medulloblastoma in 5% of children
how do we dx people with Gorlin syndrome?
2 major and 1 minor feature OR 1 major and 3 minor features
what are the major features of Gorlin syndrome?
> 5 BCC (or 1 before 30y)
FDR with NBCCS
> 2 pits in the palms or soles
jaw keratocysts
calcium deposits in falx or brain calcium deposits in person <20y
what % of melanoma is sporadic?
90%
what are the risk factors for melanoma?
melanoma prone family
previous primary melanoma
FHx
skin type
freckling
blue eyes
red hair
blistering sunburn
multiple moles or atypical moles
what are the high penetrance genes associated with melanoma? intermediate?
H: CDK2NA, CDK4, TERET POT1
M: MC1R, MITF
what syndromes (besides familial melanoma) have melanoma?
Cowden, HBOC, and smaller risk with Lynch
what is paraganglioma (PGL)? what other cancer is it associated within a hereditary syndrome?
neuroendocrine tumor
abdomen: adrenal/extra adrenal
head and neck (glomus tumor)
Hereditary paraganglioma-pheochromocytoma
what is pheochromocytoma (PCC)?
neuroendocrine tumor
functional and secrete catecholamines
what genes are associated with PGL/PCC? what percentage of PGL/PCC are hereditary?
SDH_ genes (D,C,B,AF2)
40%
what is unique about the SDHD gene in PGL/PCC?
nonpenetrant maternal inheritance
30% of PGL/PCC
40-50% of skull base and neck PGL
15% of chest, abdomen, pelvic PGL/PCC
when should you consider SDHx genes?
primary cancer is PGL
what other red flags should direct us to PGL/PCC? what about IHC?
SDH deficient GIST (hereditary diffuse gastric cancer)
SDH deficient RCC
typical RCC red flags
all PGL/PCC should be referred no matter iHC
what are PGL/PCC testing criteria?
multiple PGL or PCC (including bilat pheo)
multifocal w/ mult synchronous or metachronous tumors
recurrent
early-onset (<45y)
what would you expect if IHC was deficient for SDH_ but no germline mutation was detected?
SDHC promoter methylation
what conditions other than PGL/PCC can have pheo?
VHL and NF1
when does someone have CMMRD? what does it mean for their parents?
two inherited mutations in a lynch syndrome gene
their parents have lynch syndrome
