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Haem/Onc > Cancer Predisposition Syndromes, ASPHO > Flashcards

Cancer Predisposition Syndromes, ASPHO Flashcards

1
Q

if luekemia (or past transplant) patient, eval for CPS how?

A

cultured skin fibroblasts

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2
Q

what is variable expressivity?

A

range of a cancers a pathogenic varaint can produce

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3
Q

waht is anticipation?

A

age of cancer onset decreases in subsequent generations

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4
Q

gene for hereditary retinoblastoma?

A

RB1 gene

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5
Q

what is trilateral Rb?

A

rb in both eyes + embryonal midline CNS tumour= pineoblastoma

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6
Q

screening for hereditary rb?

A

eye exams under anesthesia starting at birth, until age 5

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7
Q

neurofibromatosis type 1 gene?

A

NF1

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8
Q

tumours with NF1?

A

optic pathway glioma, malignant peripheral nerve sheath tumour= MPNST, leukemia, gastroinetinal stroma tumours= GIST, bresat cancer

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9
Q

non-malig features of NF1? 5

A

iris hamartomas= lisch nodules, CAL macules, plexiform neurofibromas, axillary or inguinal freckling, macrocepahly, sphenoid wing dysplasia

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10
Q

gene in neurofibromatosis 2?

A

NF2

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11
Q

tumours in NF2? (3)

A
  • bilateral vestibular schwannomas (2nd decade of life)
  • meningiomas
  • ependymomas
  • astrocytomas
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12
Q

other phys exam findings on NF2?

A

intraderma schwannomas, retinal hamartomas, meningioma, cortical wedge cataract

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13
Q

nevoid basal cell carcinoma syndrome= gorlin syndrome…gene?

A

PTCH1 and SUFU genes

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14
Q

tumours seen in gorlin syndrome? 2

A
  • desmoplastic nodular medulloblastoma (SUFU)
  • basal cell carcinoma of skin
  • keratogenic cysts of the jaw
  • cardiac or ovarain fibromas
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15
Q

would you test for RB1, NF1, NF2, gorlin in kids?

A

yes

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16
Q

phys exam findings in gorlin? 3

A 
macroceph
frontal bossing
facial milia
coarse shaped facial features
bifid ribs
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17
Q

von hippel-lindau syndrome: gene?

A

VHL

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18
Q

VHL tumours? 2

A

hemangioblastoma, retinal angioma, renal cell carcinoma, pheochromocytoma, endodermal sinus tumour (ear)

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19
Q

test VHL in kids?

A

yes

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20
Q

most concerning in VHL?

A

RCC, #1 cause of death

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21
Q

rhabdoid tumour predisposition type 1: gene?

A

SMARCB1 gene

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22
Q

tumours with rhabdoid tumor predispo?

A

Atypical teratoid/rhabdoid tumor (AT/RT), schwannomas, meningiomas, malignant rhaboid tumour of the kidney

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23
Q

screening in SMARCB1 muts?

A

brain MRI q3 months until age 5

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24
Q

constitutional mismatch repair def: gene?

A

MSH2, MLH1, MSH6, PMS2

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25
Q

CMMRD inheritance?

A

recessive! both parents have lynch syndrome!

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26
Q

tumours with CMMRD?

A

HYPERMUTATED high grade glioma, colon cancer, leuekmia

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27
Q

non-malig feature in CMMRD?

A

Cafe au lait macules

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28
Q

CMMRD screening?

A

whole body MRI yearly, cbc yearly, AUS 3 per year

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29
Q

Li-Fraumeni syndrome: gene? chromosome?

A

TP53; chrom 17

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30
Q

5 tumours associated with LFS?

A 
osteosarcoma
adrenocortical carcinoma
ANAPLASTIC embryonal RMS
choroid plexus ca
breast cancer (triple pos)
HYPODIPLOID pre-B ALL
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31
Q

screening for LFS?

A
  • annual whole body MRI
  • annual brain MRI with adn without contrast
  • AUS every 3 months
  • annual skin exam
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32
Q

Rothmund-Thomson Syndrome Type II gene?

A

RECQL4

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33
Q

Rothmund-Thomson syndroem inheritance?

A

AR

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34
Q

tumour associated with Rothmund-Thomson? ohter features?

A
  • osteosarcoma (mulicentric)
  • poikiloderma facial rash
  • radial ray defects
  • skeletal anomalies like frontal bossing
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35
Q

PTEN-Hamartoma syndrome gene? AKA?

A

PTEN, Cowden syndrome

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36
Q

PTEN-harmatoma sydnrome tumours? 2

A

papillary thyroid cancer
GI hamartomas
lipomas
breast cancer

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37
Q

ohter features in cowden sydnroem?

A

macrocephaly, intellectual disability, Trichilemmoma= SC lumps

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38
Q

multiple endocrine neoplasia type 1= MEN1..gene?

A

MEN1

39
Q

most common tumours in MEN1?

A

3Ps: pancreatic neuroendocrine tumors, pituitary adenomas, parathyroid tumours

40
Q

common non-malig thing seen in MEN1?

A

primary hyperparathyroidism

41
Q

key features about tumours in MEN1?

A

often secrete hormones like insulin, prolactin…patient could present with low blood sugar for example

42
Q

MEN2 and 2B: gene?

A

RET gene (activating)

43
Q

tumour with BOTH MEN2A and 2B?

A

Pheochromocytoma, medullary thryoid cancer!…remove thyroid early! before age 5 in A, before age 1 in B!

44
Q

other finding in MEN2a?

A

primary hyperparathyrodism

45
Q

MEN4: gene?

A

CDKN1B gene

46
Q

MEN4 tumours?

A

pituitary adenoma, parathyroid tumours, GU tumours

47
Q

MEN4 other finding

A

hyperparathyroidism

48
Q

DICER 1 syndrome gene?

A

DICER1

49
Q

test for DICER in infancy?

A

yes

50
Q

tumours in DICER1?

A

pleuropulmonary blastoma
cystic nephroma
sertoli-leydig cell tumour of the ovary
papillary or follicular thyroid cancer

51
Q

Familial Adenomatous Polyposis (FAP): gene?

A

APC

52
Q

cancers associated with FAP?

A
  • hepatoblastoma
  • garnder syndrome: abdo desmoid tumours
  • CNS embryonal tumour= turcot syndrome
  • colon cancer
53
Q

screening guideline for FAP?

A

AUS 4x per year from birth- age 4; colonscopy starting at age 12

54
Q

hereditary pheochromocytoma/paraganglioma syndrome genes?

A

SDHA, SDHB, SDHC, SDHD

55
Q

tumours associated with hereditary pheochromocytoma/paraganglioma syndrome?

A 
pheo
RCC
papillary thryroid tumours
pit adenoma
GIST
56
Q

hereditary neurbolastoma: genes?

A

PHOX2B, ALK (activating), Rasopathies

57
Q

PHOX2B also causes what 2 things?

A

central hypventilation sydnrome, hirschsprung’s disease

58
Q

Genes involved inheritary wilms? (2)

A

WT1 and 11p15.5 lcous

59
Q

5 CPS associatedi with WT and genes?

A 
WAGR, WTI + PAX6
Denys-Drash WT1
Frasier, WT1
Perlman DIS3L2
Bohring-Opitiz Syndrome ASXL1
60
Q

WAGR stands for?

A

wilms tumor, aniridia, GU anomalies (eg hypospadias), intelleculal disability

61
Q

non WT finding in denys-dash?

A

kidney diffuse meangial sclerosis

62
Q

2 findings in perlman other than WT?

A

polydactyly, fetal ascites

63
Q

Bohring Opitz syndrome finding other than WT

A

intellectual disability

64
Q

if pt has a WT predispo, screening to do?

A

renal ultrasounds every 3 months from birth to age 7

65
Q

WT1 looked on which chrom?

A

11

66
Q

Bloom syndrome: gene?

A

BLM

67
Q

Bloom syndrome inheritance?

A

AR

68
Q

tumours in Bloom?

A

WT, GI/colon, bresat cancer, leukemias

69
Q

concner when treating bloom sydnrome pt for cancer?

A

increased tox to rad adn chemo

70
Q

phys exam findings in bloom?

A
  • narrow face
  • butterfly rash at nose
  • telangiectaias
  • CALs
  • photosensitvity
71
Q

Beckwith-Wiedemann Syndrome: due to?

A

imprinting defect on 11p15.5

72
Q

confirm BWS how?

A

DNA mehtylation profile

73
Q

solid tumours in BWS?

A

HBL, WT

74
Q

screening for BWS?

A

-AUS adn AFP a 3 months from birth to age 4…after age 4, just do RENAL US q 3 months –>through age 7

75
Q

BWS screening has same screening as what two other syndromes?

A

Simpson-Golabi-Behmel syndrome & T18

76
Q

phys exam features in BWS?

A 
large tongue
hemihypertrophy
omphalocele
splenomegaly/visceromegaly
macrocephaly
77
Q

FH tumour predisoposition syndrome: gene?

A

fumarate hydratase (FH)

78
Q

another name for FH tumour predisp syndrome?

A

hereditary leiomyomatosis and renal cell carcinoma

79
Q

RHabdoid tumour predispositon syndrome TYPE TWO caused by what gene mut?

A

SMARCA4

80
Q

tumour associated with RHabdoid tumour predispositon syndrome TYPE TWO?

A

small cell ca of the ovary- hypercalcemic type

81
Q

noonan syndrome: gene causes?

A

PTPN11 gene, SOS1, RAF1, KRAS

82
Q

leuks associated iwth nnonan?

A

JMML> ALL

83
Q

noonan features on phys exam?

A

S’s:
Short stature/strabismus/short neck/shield chest/Setting of ears is low

short stature
strabismus
shield chest
short neck
high palate
low set ears
84
Q

familila plt disorder with associated myeloid malig: gene?

A

RUNX1

85
Q

mutation associated iwth familila plt disorder with associated myeloid malig?

A

MDS/AML, can see monosomy 7

86
Q

familial plt disorder with associated myeloid malig: exhbits what CPS feature?

A

anticipation

87
Q

familial plt disorder with associated myeloid malig: see waht with plts?

A

asprin-like plt defect, mild thrombocytopenia, can mimic ITP

88
Q

THrombocytopenia 5: gene?

A

ETV6

89
Q

Thrombocyteopnia 5 associated with what cancers?

A

pre-B ALL (HYPERdiploid ALL), MDS/AML

90
Q

features of thrombocytopenia 5?

A

mild thrombocytopenia, mild bleeding phenotype

91
Q

ANKRD26-related thrombocytopenia gene?

A

ANKRD26

92
Q

ANKRD26: aka?associated iwth what cancer? phenotype?

A

Thrombocytoepnia 2; AML; mild thrombocytopenia, mild bleeding phenotype

93
Q

CEBPA-asscoiated familila AML: associated with? CPS feature?

A

AML; highly penetraint, should have fam hx of AML…should see 2 CEBPA variants on leukemia sequencing and 1 variant on germline sequencing

Haem/Onc (30 decks)

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