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MedGen > Rare and Peds Cancer syndromes > Flashcards

Rare and Peds Cancer syndromes Flashcards

1
Q

what are the details/mechanisms of proto-oncogenes with cancer? ex?

A

MEN

dominant (1-hit) -> growth factors, kinases, transmembrane signaling

activated -> cancer

not inherited

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2
Q

what are the details/mechanisms of tumor suppressors with cancer? ex?

A

dominant (2 hit)

represses cancer

cancer action when lose

inherited or not

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3
Q

warning signs with hereditary pancreatic cancer?

risk factors?

when is panc considered familial?

A

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

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4
Q

what pancreatic syndromes are associated with adenocarcinoma?

A

familal pancreativ, CDKN2A, BRCA1/2, Lynch, PALB2, STK11

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5
Q

what pancreatic syndromes are associated with neuroendocrine?

A

VHL, MEN1

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6
Q

what do we know about pancreatic cancer screening?

A

some argue that there’s limited medical management use

can include endoscopic U/S or MRI, ** no screening has been shown to reduce mortality

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7
Q

Nevoid basal cell carcinoma syndrome is also known as:

A

Gorlin syndrome

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8
Q

what are the characteristic features of Gorlin syndrome?

A

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

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9
Q

how do we dx people with Gorlin syndrome?

A

2 major and 1 minor feature OR 1 major and 3 minor features

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10
Q

what are the major features of Gorlin syndrome?

A

> 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

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11
Q

what % of melanoma is sporadic?

A

90%

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12
Q

what are the risk factors for melanoma?

A

melanoma prone family

previous primary melanoma

FHx

skin type

freckling

blue eyes

red hair

blistering sunburn

multiple moles or atypical moles

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13
Q

what are the high penetrance genes associated with melanoma? intermediate?

A

H: CDK2NA, CDK4, TERET POT1

M: MC1R, MITF

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14
Q

what syndromes (besides familial melanoma) have melanoma?

A

Cowden, HBOC, and smaller risk with Lynch

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15
Q

what is paraganglioma (PGL)? what other cancer is it associated within a hereditary syndrome?

A

neuroendocrine tumor

abdomen: adrenal/extra adrenal

head and neck (glomus tumor)

Hereditary paraganglioma-pheochromocytoma

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16
Q

what is pheochromocytoma (PCC)?

A

neuroendocrine tumor

functional and secrete catecholamines

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17
Q

what genes are associated with PGL/PCC? what percentage of PGL/PCC are hereditary?

A

SDH_ genes (D,C,B,AF2)

40%

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18
Q

what is unique about the SDHD gene in PGL/PCC?

A

nonpenetrant maternal inheritance

30% of PGL/PCC

40-50% of skull base and neck PGL

15% of chest, abdomen, pelvic PGL/PCC

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19
Q

when should you consider SDHx genes?

A

primary cancer is PGL

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20
Q

what other red flags should direct us to PGL/PCC? what about IHC?

A

SDH deficient GIST (hereditary diffuse gastric cancer)

SDH deficient RCC

typical RCC red flags

all PGL/PCC should be referred no matter iHC

21
Q

what are PGL/PCC testing criteria?

A

multiple PGL or PCC (including bilat pheo)

multifocal w/ mult synchronous or metachronous tumors

recurrent

early-onset (<45y)

22
Q

what would you expect if IHC was deficient for SDH_ but no germline mutation was detected?

A

SDHC promoter methylation

23
Q

what conditions other than PGL/PCC can have pheo?

A

VHL and NF1

24
Q

when does someone have CMMRD? what does it mean for their parents?

A

two inherited mutations in a lynch syndrome gene

their parents have lynch syndrome

25
Q

what features do you see in someone with CMMRD?

A

hematologic malignancies -> tend to be T cell instead of B cell typically

brain tumors (gliomas, medulloblastoma)

CAL spots

small # of people meet dx criteria for NF1 even if they don’t have NF1

multiple polyps at young age

26
Q

how many types of MEN are there?

A

2

27
Q

what types of cancers are associated with MEN1? gene?

A

MEN1 gene (chr 11)

pituitary, parathyroid, adrenal cortex, pancreatic islets

28
Q

what cancers are associated with MEN2? gene? subtypes of MEN2?

A

thyroid (T cells), parathyroid, adrenal medulla

RET gene

2A: medullary thyroid carcinoma, pheo, hyperparathyroidism, parathyroid adenoma

2B: MTC, pheo, marfanoid habitus, no HPT, 50% de novo rate

29
Q

What is unique about familial medullary thyroid carcinoma?

A

at least two people with MTC, no pheos or parathyroid disease, later age of onset, specific mutations in RET

30
Q

how common is MTC? breakdown of syndromes? what other syndrome has thyroid cancer?

A

10% of all thyroid

75% of MTC is sporadic

  • 20% MEN2A
  • 2% MEN2B
  • 2% FMTC

Cowden syndrome

31
Q

What gene is associated with Li-Fraumeni syndrome?

how many individuals that meet clinical dx criteria have a detectable mutation in this gene?

A

TP53

70%

32
Q

what differenty types of LFS are there?

A

classic LFS and Li Fraumeni like

33
Q

to meet the classic LFS criteria someone must have all of the following:

A

sarcoma <45y
1stDR with any cancer <45y
1st/2ndDR with cancer <45y or sarcoma at any age

34
Q

what is the de novo rate for LFS/TP53?

who should we consider testing for LFS?

how effective is sequencing?

A

7-20%

young women with brca <30y, TNBC

detects 95% of mutations

35
Q

what are the criteria used to screen for individuals with LFS?

A

Chompret criteria

36
Q

what gene is associated with Cowden syndrome? facial features?

A

PTEN (10q23)

facial trichilemmomas, acral keratoses, papillomatous papules, mucosal lesions

37
Q

what are the major features associated with Cowden/ PTEN Hamartoma tumor syndrome? minor?

A

brca, thyroid cancer, macrocephaly, Lhermitte-Duclos disease, endo cancer

thyroid lesions, MR, GI hamartoma, fibrocystic breasts, lipomas, fibromas, GU tumors or malformations

38
Q

those with Cowden/PHTS have lifetime risks for?

A 
brca (25-50%)
benign breast disease (67%)
tyroid cancer (usually follicular, rarely papillary; 10%)
benign thyroid lesions (75%)
endometrial cancer (5-10%)
uterine fibroids (common)
39
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary breast cancer?

A 
HBOC (BRCA1/2)
LFS (TP53)
Cowden (PTEN)
Hereditary diffuse gastric cancer -- lobular ( CDH1)
Peutz-Jegher (STK11)
CHEK2 (CHEK2)
Lynch (MMR)
Ataxia telangiectasia (ATM)
Bloom's syndrome (BLM)

other? RAD51C/D, BRIP1

40
Q

What syndromes/genes are a part of the DDx list if you see male breast cancer?

A

HBOC (6-10%, less with BRCA1)
Klinefelter syndrome
Cowden (PTEN - some cases)

41
Q

What syndromes are a part of the DDx list if you suspect hereditary ovarian cancer?

A

HBOC (adenocarcinoma)
Lynch (MMR, adenocarcinoma)
PJS (STK11, sex cord tumors)
other: BRIP1, RAD51C/D

TBD -> PALB2, CHEK2, others

42
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary uterine/endometrial cancer?

A

Cowden (PTEN)
Lynch (MMR)
PJS (STK11)
TBD -> BRCA1/2?

43
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary colon cancer?

A 
Lynch (MMR
FAP (APC)
MYH polyposis (MYH)
LFS (TP53)
PJS (STK11/LKB1)
Juvenile Polyposis (BMPR1A, SMAD4)
Birt-Hogg-Dube (FLCN, low risk)
44
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary gastric cancer?

A 
Lynch (MMR)
FAP (APC)
LFS (TP53)
PJS (STK11/LKB1)
hereditary diffuse gastric cancer (CDH1)
Juvenile polyposis (BMPR1A, SMAD4)
45
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary pancreatic cancer?

A

adenocarcinoma:

  • familial pancreatic cancer (??? gene)
  • FAMMM -> CDKN2A
  • HBOC (BRCA1/2)
  • PALB2 (PALB2)
  • PJS (STK11)
  • Lynch and FAP (MMR and APC)

Neuroendocrine:

  • VHL )VHL)
  • MEN1 (MEN1)
46
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary RENAL cancer?

A 
VHL (VHL, clear cell)
BHD -> (FLCN, oncocytic chromophobe)
HPRCC (C-MET, Papillary RCC type 1)
HLRCC (FH, Papillary RCC type 1)
Cowden (PTEN, papillary RCC)
TS (TSC1/2, angiomyolipoma/oncocytoma/RCC)
47
Q

What syndromes/genes are a part of the DDx list if you suspect hereditary pheochromocytoma?

A

hereditary PGL/PCC (SDH genes)
VHL (VHL)
MEN2A and 2B (RET)
NF1 (NF1)

48
Q

what pediatric cancers typically warrant a genetics eval?

A 
retinoblastoma (RB1)
bilateral Wilms tumor (WT1)
adrenocortical carcinoma (TP53)
choroid plexus tumor (TP53)
rhabdomyosarcoma < 3y (TP53)
osteosarcoma < 10y (TP53)
medullary thyroid cancer (RET)
atypical teratoid and malignant rhabdoid tumor (INI1/SNF5)
hepatoblastoma (APC)
PCC/PGL (VHL, NF1, RET, SDHB, SDHC, SDHD)
endolymphatic sac tumors (VHL)
optic pathway tumor (NF1)
acoustic or vestibular schwannomas (NF2)
BCC/medulloblastoma (PTCH)
bilateral neuroblastoma (ALK, PHOX2B)
49
Q

what are some hereditary cancer syndromes that are associated with childhood cancers?

A

Retinoblastoma, Wilms tumor, FAP, MEN2/S, LFS, Rhabdoid predisposition syndrome, VHL, Nevoid BCC syndrome/Gorlin syndrome, PJS, Cowden, Familial melanoma, NF1 and NF2, TSC, PGL/PCC

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