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Cancer Predispositions > Cancer Predispostitions > Flashcards

Cancer Predispostitions Flashcards

1
Q

Hereditary Retinoblastoma Clinical

A

Sensitive to radiation, trilateral RB

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2
Q

Hereditary Retinoblastoma Screening

A

Birth -8wks non-sedated eye exam q2-4 wks
8wks-12mo monthly sedated eye exam
12-24 mo sedated eye exam q 2mo
24-36 mo q3 mo
36 mo-48 mo q4mo
48 mo-60 mo q6 mo the stop

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3
Q

NF1 Clinical

A

High variable expressivity
LGG and optic pathway glioma
MPNST
Leukemia (JMML)
GIST and duodenal carcinoid tumors
Breast Cancer
Plexiform neurofibromas
Pheochromocytomas
Embryonal rhabdomyosarcomas
Iris Hamartomas (Lisch nodules)
Sphenoid wing dysplasia macrocephaly

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4
Q

NF2 clinical

A

bilateral vestibular schwannomas
meningioma
ependymoma
astrocytoma
intradermal schwannoma
retinal hamartomas
cortical wedge cataract

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5
Q

NF2 Screening

A

Annual brain MRI starting at age 10y
annual audiology exam

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6
Q

Nevoid Basal Cell Carcinoma (Gorlin Syndrome) Gene

A

PTCH1 & SUFU

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7
Q

Nevoid Basal Cell Carcinoma (Gorlin Syndrome) Clinical

A

Desmoplastic nodular medulloblastoma (SUFU - SHH type)
Basal cell carcinoma
Keratogenic cysts of the Jaw (PTCH1)
Cardiac fibromas
Ovarian fibromas
Macrocephaly
Milia
bifid ribs, wedge shaped vertebrae

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8
Q

Nevoid Basal Cell Carcinoma (Gorlin Syndrome) Screening

A

Annual derm exam starting at 10 yrs
SUFU brain MRI q3-4 mo until age 3y then q6 mo until age 5y
PTCH1 panorex annual

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9
Q

Von Hippel-Lindau Clinical

A

hemangioblastoma
retinal angioma
renal cell carcinoma later in life
pheochromocytoma
endodermal sinus tumor (ear)

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10
Q

Von Hippel-Lindau Screening

A

Annual eye exam starting at birth
brain and spine MRI every other year starting at 8yrs
annual abdomen MRI starting at 10 yrs
Audiogram every other year starting at 5 yrs

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11
Q

Rhabdoid Tumor Predisposition Type 1 Gene

A

SMARCB1

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12
Q

Rhabdoid Tumor Predisposition Type 1 Clinical

A

ATRT 30% of ATRT have germline RTP mutation
schwannomas
meningiomas
Rhabdoid tumor of the kidney

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13
Q

Rhabdoid Tumor Predisposition Type I screening

A

MRI brain q3mo until 5yrs
annual abdominal US

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14
Q

Constitutional Mismatch Repair Deficiency (CMMRD) - Lynch Syndrome Gene

A

MSH2, MLH1, MSH6, PMS2
Autosomal recessive
High penetrance
variable expressivity

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15
Q

Constitutional Mismatch Repair Deficiency (CMMRD) - Lynch Syndrome Clinical

A

Hypermutated g=high grade glioma
colon cancer
leukemia
cafe-au-lait spots

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16
Q

Constitutional Mismatch Repair Deficiency (CMMRD) - Lynch Syndrome Screening

A

annual whole body MRI
annual CBC
q4mo abdominal US

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17
Q

Li-Fraumeni Gene

A

TP53 on chromosome 17

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18
Q

Li-Fraumeni Clinical

A

Osteosarcoma <5yrs
adrenocortical carcinoma
anaplastic rhabdomyosarcoma
Choroid plexus carcinoma
Triple positive breast cancer
hypodiploid B-ALL
infiltrative astrocytoma, high grade gliomas

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19
Q

Li-Fraumeni Screening

A

Annual whole body MRI
Annual brain MRI
Abdominal US q3-4 mo
Annual skin exam

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20
Q

Rothmund Thomson Syndrome Type II Gene

A

RECQL4
Autosomal Recessive

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21
Q

Rothmund Thomson Syndrome Type II Clinical

A

Osteosarcoma - multicentric
poikiloderma
short
sparse hair
juvenile cataracts
skeletal abnormalities
radial ray defects
premature aging

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22
Q

PTEN Harmartoma Syndrome (Cowden) Gene

A

PTEN

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23
Q

PTEN Hamartoma Syndrome (Cowden) Clinical

A

Papillary thyroid cancer
Lipomas
GI hamartomas
Breast cancer
endometrial cancer young (40 y)
Macrocephaly
IQ
Trichilemmoma (subq lumps)

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24
Q

PTEN Hamartoma (Cowden) Syndrome Screening

A

Every other year thyroid US starting 7 yrs

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25
Q

MEN1 Clinical

A

Pancreatic neuroendocrine tumors (secrete insulin)
Pituitary adenomas (secrete prolactin)
Parathyroid tumors (primary hyperparathyroidism)

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26
Q

MEN2A Gene

A

RET activating

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27
Q

MEN2A Clinical

A

95% of MEN2
100% medullary thyroid cancer
primary hyperparathyroidsim

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28
Q

MEN2A screening

A

thyroidectomy by age 5 y
Neck US CEA level calcitonin Q6 mo x2 then annual
plasma metanephrines annual

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29
Q

MEN2B Gene

A

RET activating

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30
Q

MEN2B Clinical

A

5% MEN2
100% very aggressive medullary thyroid cancer (<1 yr)
50% pheochromocytoma
No primary hyperparathyroidsim
Mucosal neuromas
intestinal gnaglioneuromas
marfanoid

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31
Q

MEN2B Screening

A

Thyroidectomy before age 1y
Neck US CEA calcitonin Q6 mo x2 then annual
Plasma metanephrines starting age 11y

32
Q

MEN4 Gene

A

CDKN1B

33
Q

MEN4 Clinical

A

Pituitary adenoma
parathyroid tumors (hyperparathyroidism)
genitourinary tumors

34
Q

Carney Complex Gene

A

PRKAR1A

35
Q

Carney Complex Clinical

A

lentigines
Pituitary adenoma (GH)
Cardiac myomas
Psammomatous melanotic schwannoma
Large cell calcifying sertoli cell tumors

36
Q

Carney COmplex screening

A

Annual ECHO
Annual GH prolactin IGF1 starting in adolescence
annual brain spine chest abdomen and pelvis MRI
thyroid US if nodules present

37
Q

Hereditary Pheochromocytoma Paraganglioma Syndrome Gene

A

SDHA, SDHB, SDHC, SDHD
SDHB = bad

38
Q

Hereditary Pheochromocytoma Paraganglioma Syndrome Clinical

A

30% of all pheochromocytomas
Renal cell carcinoma
Papillary thyroid carcinoma
pituitary adenoma
GIST

39
Q

Hereditary Pheochromocytoma Paraganglioma Syndrome screening

A

Whole body MRI every other year starting at 6-8 yrs
Annual metanephrines
Annual methoxytyramine
annual BP

40
Q

DICER1 Clinical

A

Pleuropulmonary blastoma
cystic nephroma
sertoli lydif cell tumor of the ovary
papillary or follicular thyroid cancer
embryonal rhabdomyosarcoma of the cervix, uterus or thorax)
gynandroblastoma
pineoblastoma

41
Q

DICER1 screening

A

chest CT 3-6 mo then at 2.5-3yrs if normal
CXR q6mo until age 8 y then annual until age 12 y
THyroid US q3yrs starting at 8yo
abdominal US q6mo until 8y then annual until 12 y
Pelvic US q6-12 mo until 40 y

42
Q

Familial Adenomatous Polyposis (Gardiner/Turcot Sx) Gene

A

APC (if negative MUTYH)

43
Q

FAP/Gardiner/Turcot Clinical

A

Hepatoblastoma (<2%) but we check all hepatoblastoma for APC
Abdominal Desmoid tumors
CNS embryonal tumors
Colon Cancer

44
Q

FAP screening

A

Quarterly AFP and Abdominal US until age 4y
Colonoscopy starting at 12y

45
Q

Hereditary neuroblastoma Genes

A

PHOX2B - congenital hypoventilation/hirschprungs
ALK activation
RASopathies

46
Q

Hereditary neuroblastoma screening

A

Abdominal US urine VMA/HVA CXR q3mo until age 6y then q6 mo until age 10y

47
Q

Wilms Tumor Predispositions genes

A

WT1 and 11p15.5

48
Q

WAGR

A

WT1 + PAX6
Wilms tumor
aniridia
GU abnormalities
intellectual disability

49
Q

Denys-Drash

A

WT1
diffuse mesangial sclerosis of the kidney

50
Q

Fraiser Syndrome

A

WT1 intron 9
focal segmental glomerulosclerosis

51
Q

Perlman Syndrome

A

DIS3L2
polydactaly
fetal ascites
mesoneproblastoma

52
Q

Bhoring-Opitz Syndrome

A

ASXL1
syndromic with intellectual disability

53
Q

Wilms Tumor Predispositions screening

A

Renal US q3mo until 7y

54
Q

Bloom Syndrome gene

A

BLM
autosomal recessive

55
Q

Bloom syndrome clinical

A

Wilms tumor
colon cancer
breast cancer
leukemia
increased toxicity to radiation and chemo
poor growth
narrow head
butterfly rash
telangiectasias
cafe-au-lait spots
photosentitivity

56
Q

Bloom syndrome screening

A

abdominal US q3mo until 8y
colonoscopy starting at 12y
breast MRI starting at 18y
whole body MRI every 1-2 yrs

57
Q

Beckwith-Wiedemann SYndrome Gene

A

imprinting defect on 11p15.5 needs DNA methylation

58
Q

Beckwith-Wiedemann Syndrome Clinical

A

Hepatoblastoma
Wilms tumor
large tongue
hemihypertrophy
macrocephaly
omphalocele
organomegaly
other similar syndromes Simpson-Golabi-Behmel & trisomy 18

59
Q

Beckwith-Wiedeman Syndrome Clinical

A

Renal US q3mo until 7y
Abdominal US & AFP q3mo until 4y

60
Q

FH tumor predisposition SYndrome gene (Hereditary leiomyomatosis and renal cell carcinoma)

A

Fumarate hydratase

61
Q

FH tumor screening

A

Annual abdominal US starting at 8y
annual derm exam

62
Q

Rhabdoid tumor predisposition type II gene

A

SMARC4

63
Q

Rhabdoid tumor predisposition type II clinical

A

small cell carcinoma of the ovary hypercalcemic type
rarely ATRT

64
Q

Rhabdoid predisposition type II screening

A

pelvic US q3-6 mo
bilateral oophrectomy

65
Q

Noonan Syndrome gene

A

PTPN11 SOS1 RAF1 KRAS

66
Q

Noonan Syndrome Clinical

A

JMML
ALL
Short
strabismus
pulmonary valve stenosis
sheild chest
short neck
low ears

67
Q

Ataxia telangiectasia gene

A

ATM
Autosomal recessive

68
Q

Ataxia telangiectasia clinical

A

Leukemia lymphoma T-cell, diffuse large B cell
radiosensitivity
immunodeficiency
carcinomas
gliomas
progressive neurodegeneration
cerebellar ataxia age 3-4 yrs
occular cutaneous telangiectasias
DM
premature ovarian insufficiency
progressive lung disease

69
Q

Nijmegen breakage syndrome gene

A

NBN
Autosomal recessive

70
Q

Nijmegen Breakage Clinical

A

T-cell ALL/lymphoma DLBCL
HIgh radiosensitivity
immunodeficiency
rhadomyosarcomas
gliomas
meningiomas
thyroid carcinoma
microcephaly
sloped forehead with receding mendible
IQ

71
Q

Familial Platelet Disorder with AML Gene

A

RUNX1

72
Q

Familial Platelet Disorder with AML Clinical

A

Monosomy 7 AML
30-40% risk of MDS/AML w anticipation
aspirin like platelet defect w mild thrombocytopenia

73
Q

Thrombocytopenia 5 gene

A

ETV6

74
Q

Thrombocytopenia 5 clinical

A

Hyperdiploid B-ALL, MDS AML
Mild thrombocytopenia

75
Q

ANKRD26 thrombocytopenia

A

Thrombocytopenia 2
AML (8%)
moderate thrombocytopenia

76
Q

CEBPA familial AML

A

2 variants of CEBPA in leukemia
germline 1 variant
highly penetrant, increased mutations in leukemia

Cancer Predispositions (4 decks)

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