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Cancer Predispostitions Flashcards

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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
MEN1 Clinical
Pancreatic neuroendocrine tumors (secrete insulin) Pituitary adenomas (secrete prolactin) Parathyroid tumors (primary hyperparathyroidism)
26
MEN2A Gene
RET activating
27
MEN2A Clinical
95% of MEN2 100% medullary thyroid cancer primary hyperparathyroidsim
28
MEN2A screening
thyroidectomy by age 5 y Neck US CEA level calcitonin Q6 mo x2 then annual plasma metanephrines annual
29
MEN2B Gene
RET activating
30
MEN2B Clinical
5% MEN2 100% very aggressive medullary thyroid cancer (<1 yr) 50% pheochromocytoma No primary hyperparathyroidsim Mucosal neuromas intestinal gnaglioneuromas marfanoid
31
MEN2B Screening
Thyroidectomy before age 1y Neck US CEA calcitonin Q6 mo x2 then annual Plasma metanephrines starting age 11y
32
MEN4 Gene
CDKN1B
33
MEN4 Clinical
Pituitary adenoma parathyroid tumors (hyperparathyroidism) genitourinary tumors
34
Carney Complex Gene
PRKAR1A
35
Carney Complex Clinical
lentigines Pituitary adenoma (GH) Cardiac myomas Psammomatous melanotic schwannoma Large cell calcifying sertoli cell tumors
36
Carney COmplex screening
Annual ECHO Annual GH prolactin IGF1 starting in adolescence annual brain spine chest abdomen and pelvis MRI thyroid US if nodules present
37
Hereditary Pheochromocytoma Paraganglioma Syndrome Gene
SDHA, SDHB, SDHC, SDHD SDHB = bad
38
Hereditary Pheochromocytoma Paraganglioma Syndrome Clinical
30% of all pheochromocytomas Renal cell carcinoma Papillary thyroid carcinoma pituitary adenoma GIST
39
Hereditary Pheochromocytoma Paraganglioma Syndrome screening
Whole body MRI every other year starting at 6-8 yrs Annual metanephrines Annual methoxytyramine annual BP
40
DICER1 Clinical
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
DICER1 screening
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
Familial Adenomatous Polyposis (Gardiner/Turcot Sx) Gene
APC (if negative MUTYH)
43
FAP/Gardiner/Turcot Clinical
Hepatoblastoma (<2%) but we check all hepatoblastoma for APC Abdominal Desmoid tumors CNS embryonal tumors Colon Cancer
44
FAP screening
Quarterly AFP and Abdominal US until age 4y Colonoscopy starting at 12y
45
Hereditary neuroblastoma Genes
PHOX2B - congenital hypoventilation/hirschprungs ALK activation RASopathies
46
Hereditary neuroblastoma screening
Abdominal US urine VMA/HVA CXR q3mo until age 6y then q6 mo until age 10y
47
Wilms Tumor Predispositions genes
WT1 and 11p15.5
48
WAGR
WT1 + PAX6 Wilms tumor aniridia GU abnormalities intellectual disability
49
Denys-Drash
WT1 diffuse mesangial sclerosis of the kidney
50
Fraiser Syndrome
WT1 intron 9 focal segmental glomerulosclerosis
51
Perlman Syndrome
DIS3L2 polydactaly fetal ascites mesoneproblastoma
52
Bhoring-Opitz Syndrome
ASXL1 syndromic with intellectual disability
53
Wilms Tumor Predispositions screening
Renal US q3mo until 7y
54
Bloom Syndrome gene
BLM autosomal recessive
55
Bloom syndrome clinical
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
Bloom syndrome screening
abdominal US q3mo until 8y colonoscopy starting at 12y breast MRI starting at 18y whole body MRI every 1-2 yrs
57
Beckwith-Wiedemann SYndrome Gene
imprinting defect on 11p15.5 needs DNA methylation
58
Beckwith-Wiedemann Syndrome Clinical
Hepatoblastoma Wilms tumor large tongue hemihypertrophy macrocephaly omphalocele organomegaly other similar syndromes Simpson-Golabi-Behmel & trisomy 18
59
Beckwith-Wiedeman Syndrome Clinical
Renal US q3mo until 7y Abdominal US & AFP q3mo until 4y
60
FH tumor predisposition SYndrome gene (Hereditary leiomyomatosis and renal cell carcinoma)
Fumarate hydratase
61
FH tumor screening
Annual abdominal US starting at 8y annual derm exam
62
Rhabdoid tumor predisposition type II gene
SMARC4
63
Rhabdoid tumor predisposition type II clinical
small cell carcinoma of the ovary hypercalcemic type rarely ATRT
64
Rhabdoid predisposition type II screening
pelvic US q3-6 mo bilateral oophrectomy
65
Noonan Syndrome gene
PTPN11 SOS1 RAF1 KRAS
66
Noonan Syndrome Clinical
JMML ALL Short strabismus pulmonary valve stenosis sheild chest short neck low ears
67
Ataxia telangiectasia gene
ATM Autosomal recessive
68
Ataxia telangiectasia clinical
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
Nijmegen breakage syndrome gene
NBN Autosomal recessive
70
Nijmegen Breakage Clinical
T-cell ALL/lymphoma DLBCL HIgh radiosensitivity immunodeficiency rhadomyosarcomas gliomas meningiomas thyroid carcinoma microcephaly sloped forehead with receding mendible IQ
71
Familial Platelet Disorder with AML Gene
RUNX1
72
Familial Platelet Disorder with AML Clinical
Monosomy 7 AML 30-40% risk of MDS/AML w anticipation aspirin like platelet defect w mild thrombocytopenia
73
Thrombocytopenia 5 gene
ETV6
74
Thrombocytopenia 5 clinical
Hyperdiploid B-ALL, MDS AML Mild thrombocytopenia
75
ANKRD26 thrombocytopenia
Thrombocytopenia 2 AML (8%) moderate thrombocytopenia
76
CEBPA familial AML
2 variants of CEBPA in leukemia germline 1 variant highly penetrant, increased mutations in leukemia

Cancer Predispositions (4 decks)

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