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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
CMMRD inheritance?
recessive! both parents have lynch syndrome!
26
tumours with CMMRD?
HYPERMUTATED high grade glioma, colon cancer, leuekmia
27
non-malig feature in CMMRD?
Cafe au lait macules
28
CMMRD screening?
whole body MRI yearly, cbc yearly, AUS 3 per year
29
Li-Fraumeni syndrome: gene? chromosome?
TP53; chrom 17
30
5 tumours associated with LFS?
``` osteosarcoma adrenocortical carcinoma ANAPLASTIC embryonal RMS choroid plexus ca breast cancer (triple pos) HYPODIPLOID pre-B ALL ```
31
screening for LFS?
- annual whole body MRI - annual brain MRI with adn without contrast - AUS every 3 months - annual skin exam
32
Rothmund-Thomson Syndrome Type II gene?
RECQL4
33
Rothmund-Thomson syndroem inheritance?
AR
34
tumour associated with Rothmund-Thomson? ohter features?
- osteosarcoma (mulicentric) - poikiloderma facial rash - radial ray defects - skeletal anomalies like frontal bossing
35
PTEN-Hamartoma syndrome gene? AKA?
PTEN, Cowden syndrome
36
PTEN-harmatoma sydnrome tumours? 2
papillary thyroid cancer GI hamartomas lipomas breast cancer
37
ohter features in cowden sydnroem?
macrocephaly, intellectual disability, Trichilemmoma= SC lumps
38
multiple endocrine neoplasia type 1= MEN1..gene?
MEN1
39
most common tumours in MEN1?
3Ps: pancreatic neuroendocrine tumors, pituitary adenomas, parathyroid tumours
40
common non-malig thing seen in MEN1?
primary hyperparathyroidism
41
key features about tumours in MEN1?
often secrete hormones like insulin, prolactin...patient could present with low blood sugar for example
42
MEN2 and 2B: gene?
RET gene (activating)
43
tumour with BOTH MEN2A and 2B?
Pheochromocytoma, medullary thryoid cancer!...remove thyroid early! before age 5 in A, before age 1 in B!
44
other finding in MEN2a?
primary hyperparathyrodism
45
MEN4: gene?
CDKN1B gene
46
MEN4 tumours?
pituitary adenoma, parathyroid tumours, GU tumours
47
MEN4 other finding
hyperparathyroidism
48
DICER 1 syndrome gene?
DICER1
49
test for DICER in infancy?
yes
50
tumours in DICER1?
pleuropulmonary blastoma cystic nephroma sertoli-leydig cell tumour of the ovary papillary or follicular thyroid cancer
51
Familial Adenomatous Polyposis (FAP): gene?
APC
52
cancers associated with FAP?
- hepatoblastoma - garnder syndrome: abdo desmoid tumours - CNS embryonal tumour= turcot syndrome - colon cancer
53
screening guideline for FAP?
AUS 4x per year from birth- age 4; colonscopy starting at age 12
54
hereditary pheochromocytoma/paraganglioma syndrome genes?
SDHA, SDHB, SDHC, SDHD
55
tumours associated with hereditary pheochromocytoma/paraganglioma syndrome?
``` pheo RCC papillary thryroid tumours pit adenoma GIST ```
56
hereditary neurbolastoma: genes?
PHOX2B, ALK (activating), Rasopathies
57
PHOX2B also causes what 2 things?
central hypventilation sydnrome, hirschsprung's disease
58
Genes involved inheritary wilms? (2)
WT1 and 11p15.5 lcous
59
5 CPS associatedi with WT and genes?
``` WAGR, WTI + PAX6 Denys-Drash WT1 Frasier, WT1 Perlman DIS3L2 Bohring-Opitiz Syndrome ASXL1 ```
60
WAGR stands for?
wilms tumor, aniridia, GU anomalies (eg hypospadias), intelleculal disability
61
non WT finding in denys-dash?
kidney diffuse meangial sclerosis
62
2 findings in perlman other than WT?
polydactyly, fetal ascites
63
Bohring Opitz syndrome finding other than WT
intellectual disability
64
if pt has a WT predispo, screening to do?
renal ultrasounds every 3 months from birth to age 7
65
WT1 looked on which chrom?
11
66
Bloom syndrome: gene?
BLM
67
Bloom syndrome inheritance?
AR
68
tumours in Bloom?
WT, GI/colon, bresat cancer, leukemias
69
concner when treating bloom sydnrome pt for cancer?
increased tox to rad adn chemo
70
phys exam findings in bloom?
- narrow face - butterfly rash at nose - telangiectaias - CALs - photosensitvity
71
Beckwith-Wiedemann Syndrome: due to?
imprinting defect on 11p15.5
72
confirm BWS how?
DNA mehtylation profile
73
solid tumours in BWS?
HBL, WT
74
screening for BWS?
-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
BWS screening has same screening as what two other syndromes?
Simpson-Golabi-Behmel syndrome & T18
76
phys exam features in BWS?
``` large tongue hemihypertrophy omphalocele splenomegaly/visceromegaly macrocephaly ```
77
FH tumour predisoposition syndrome: gene?
fumarate hydratase (FH)
78
another name for FH tumour predisp syndrome?
hereditary leiomyomatosis and renal cell carcinoma
79
RHabdoid tumour predispositon syndrome TYPE TWO caused by what gene mut?
SMARCA4
80
tumour associated with RHabdoid tumour predispositon syndrome TYPE TWO?
small cell ca of the ovary- hypercalcemic type
81
noonan syndrome: gene causes?
PTPN11 gene, SOS1, RAF1, KRAS
82
leuks associated iwth nnonan?
JMML> ALL
83
noonan features on phys exam?
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
familila plt disorder with associated myeloid malig: gene?
RUNX1
85
mutation associated iwth familila plt disorder with associated myeloid malig?
MDS/AML, can see monosomy 7
86
familial plt disorder with associated myeloid malig: exhbits what CPS feature?
anticipation
87
familial plt disorder with associated myeloid malig: see waht with plts?
asprin-like plt defect, mild thrombocytopenia, can mimic ITP
88
THrombocytopenia 5: gene?
ETV6
89
Thrombocyteopnia 5 associated with what cancers?
pre-B ALL (HYPERdiploid ALL), MDS/AML
90
features of thrombocytopenia 5?
mild thrombocytopenia, mild bleeding phenotype
91
ANKRD26-related thrombocytopenia gene?
ANKRD26
92
ANKRD26: aka?associated iwth what cancer? phenotype?
Thrombocytoepnia 2; AML; mild thrombocytopenia, mild bleeding phenotype
93
CEBPA-asscoiated familila AML: associated with? CPS feature?
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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