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BOARDS > Cancer > Flashcards

Cancer Flashcards

1
Q

Tumor location in HNPCC vs. general population

A

HNPCC - usually right sided

General Population - usually left sided

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2
Q

Inheritance pattern of PGL-1

A

Mutations in SDHD

AD inheritance

Tumors only develop if mutation is inherited paternally (Due to maternal genomic imprinting)

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3
Q

Two reasons why IHC for MLH1 may reveal loss of staining

A

1) Germline mutation of MLH1
2) Somatic BRAF mutation (at codon 600, codint for valine) caused a somatic LOF in MLH1 (MLH1 promoter is methylated, turning off gene expression).

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4
Q

Breast, colon, pancreas, stomach, ovary, sex cord tumor, Sertoli cell tumor, lung, small bowel, uterine

A

Peutz-Jegher syndrome associated cancers

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5
Q

Amsterdam Criteria

A

3 or more affected people
2 or more generations
1 CRC must be by age 50 years
FAP must be excluded.

Amsterdam I: only CRC
Amsterdam II: others

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6
Q
  • Families that have a pattern of CRC that appears to be hereditary (only CRC and no other cancer types)
  • Micro satellite stable and intact IHC
A

Familial Colon Cancer Syndrome X

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7
Q

Screening for people with FAP

A

Polyp screening (starts at 10 years), thyroid cancer screening, hepatoblastoma screening, physical exam for extracolonic screening

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8
Q

t(9;22)

A

CML - philadelphia chromosome, fusion gene of BCR-ABL (Chimeric protein) with enhanced tyrosine kinas activity

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9
Q

Colon cancer, lobular breast, and gastric

A

Hereditary diffuse gastric cancer

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10
Q

Colon, gastric, small bowel cancer

A

Juvenile polyposis syndrome

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11
Q

CHRPE and desmoid tumors are _ in AFAP

A

rare (present in classic FAP)

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12
Q

AFAP location of APC mutations

A

located at 5’ and 3’ ends

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13
Q

Proximal polyps

A

AFAP

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14
Q

CHRPE

A

Congenital hypertrophy of the retinal pigment epithelium (seen in FAP)

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15
Q

Extracolonic features of FAP

A

small bowel polyps, gastric polyps, desmoid tumors, osteomas, dental abnormalities, CHRPE, benign cutaneous lesions (epidermoid cysts and fibromas), adrenal masses (7-13%) - most without endocrinopathy or hypertension

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16
Q

Polyposis, CRC, small bowel, pancreatic adenocarcinomal, papillary thyroid carcinoma, hepatoblastoma, CNS (usually medulloblastoma), bile duct adenocarcinoma

A

FAP

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17
Q

Ovary, Urinary tract cancer, stomach, biliary tract, endometrial, CRC

A

Lynch related cancers

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18
Q

I1307K mutation

A

AJ common mutation - utility of testing is questionable - positive result will not change management. I1307K is a missense mutation creating a hypermutable area in APC (increased lifetime risk of CRC, NOT associated with FAP or AFAP)

  • Level of risk same as first degree relative with CRC
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19
Q

Medulloblastoma, multiple adenomatous polyps or polyposis,

A

Turcot syndrome (variant of FAP - no extracolonic addition features like CHRPE)

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20
Q

Breast cancer, follicular thyroid cancer, uterine cancer

A

Cowden (PTEN)

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21
Q

Breast, ovary, male breast, prostate, pancreatic, melanoma

A

BRCA2

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22
Q

Breast, second primary breast, ovary. MAYBE colon, pancreas, and male breast

A

BRCA1

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23
Q

Founder mutations of AJ for BRCA1/2

A

185delAG (BRCA1)
5382insC (BRCA1)
6174delT (BRCA2)

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24
Q

Gene most likely to cause hereditary ovary cancer

A

BRCA1 (70%)

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25
Q

Gail model does not include

A

Does not include: other cancers (like ovary), second degree relatives, paternal history, age at cancer diagnoses in relatives

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26
Q

When is it inappropriate to use the Gail Model?

A

If a woman has previously had DCIS, LCIS, or a diagnosis of breast cancer, fam history of other cancers, 2nd degree relatives with cancer, paternal history, young age of diagnoses in relatives

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27
Q

Gail Model estimates

A

1) Absolute lifetime risk of breast cancer to 90 years of age
2) five year breast cancer risk

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28
Q

Factors included in Gail

A

1) Age
2) Age at menarche
3) Age at first live birth
4) number of FDR with breast cancer
5) ever had a breast biopsy
6) number of breast biopsies
7) Presence of atypical hyperplasia
8) race

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29
Q

Nephrectomies are performed when the tumors are

A

> 3 cm

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30
Q

MET

A

proto-oncogene, causes hereditary papillary renal carcinoma

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31
Q

Claus model estimates

A

cumulative breast cancer risk based on family history alone

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32
Q

To effectively use a claus model table

A

“fudging” approximate the degree of genetic relationship (FDR or SDR) to a patient. Examples, no mother-maternal grandmother relationship - use mother-maternal aunt relationship.

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33
Q

FH gene

A

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

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34
Q

HLRCC

A

uterine leiomyomata (benign tumors containing smooth muscle), single or multiple cutaneous leomyoma, renal tumors (usually solitary) - often papillary and occasionally clear cell

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35
Q

CDH1

A

Hereditary Diffuse Gastric Cancer

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36
Q

BMPR1A and SMAD4

A

Juvenile polyposis syndrome (can also see PTEN). SMAD4 with HHT.

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37
Q

Juvenile polyposis with AVMs, mucocutaneous telangiectases, frequent nosebleeds, intracranial bleeds

A

SMAD4 - JPS/HHT syndrome

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38
Q

STK11

A

Peutz-Jeghers

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39
Q

CNS hemangioblastoma, retinal hemangioblastoma (may be the first manifestation), multiple renal cysts, pheochromocytomas, pancreas lesions and endolymphatic sac (ear) tumors, epididymal tumors

A

VHL

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40
Q

MUTYH

A

biallelic mutations - presents like AFAP, may have extracolonic features (CHRPE, osteomas)

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41
Q

90% of Lynch is caused by

A

mutations in MLH1 and MSH2

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42
Q

Proximal colon cancer

A

Lynch (AFAP also usually have more proximal placed polyps than regular FAP)

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43
Q

Jaw keratocyst

A

Gorlin syndrome

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44
Q

Falx calcification on skull x-ray, jaw keratocyst, two or more palmar or plantar pits, multipl basal cell carcinomas, medulloblastoma, congenital malformations

A

Gorlin Syndrome

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45
Q

PTCH1

A

Gorlin syndrome

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46
Q

De novo rate of APC

A

30%

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47
Q

Brain or CNS cancers

A

VHL - hemangioblastoma

NF - peripheral nerve sheath, optic glioma, astrocytoma

Gorlin - medulloblastoma

Turcot - variant of FAP, medulloblastoma

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48
Q

Pheochromocytomas

A 
VHL
NF1
MEN2A
MEN2B
PGL1
PGL4
Carney Complex
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49
Q

Parathyroid, Pituitary, Gastro-entero-pancreatic, carcinoid, adrenocortical

A

MEN1 (PPP)

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50
Q

RET

A

causes MEN2

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51
Q

Oncogenes

A

RET, MET, MYC, RAS

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52
Q

SDHD

A

(PGL1) Pheo or PGL, no other manifestations

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53
Q

SDHC

A

(PGL3) PGL, no other manifestations

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54
Q

SDHB

A

(PGL4) Pheo or PGS, clear cell renal carcinoma

55
Q

PGL2

A

Gene not known, PGL but no other manifestations

56
Q

Symptoms of a pheo hypersecreting catecholamines:

A
  • episodic sweating
  • blood pressure elevation
  • anxiety
  • palpitation
  • weight loss
57
Q

Renal cancer

A 
VHL
Hereditary Papillary Renal Carcinoma
BHD
HLRCC
Tuberous Sclerosis
SDHB (hereditary paraganglioma 4)
58
Q

Breast cancer risk for Peutz Jeghers

A

54%

59
Q

Trichelemmomas, papillomatous papules, lipomas

A

Cowden syndrome

60
Q

Soft tissue skin tumors (epidermal cysts)

A

Gardner syndrome

61
Q

Sebaceous carcinomas or adenomas, keratoacanthomas

A

Muir-Torre

62
Q

Fibrofolliculomas

A

BHD

63
Q

Cutaneous leiomyomata

A

HLRCC

64
Q

Cutaneous schwannomas

A

schwannomatosis

65
Q

Hypomelanotic macules, facial angiofibromas, shagreen patches, ungula fibromas

A

Tuberous Sclerosis

66
Q

Eyelid and oral neuromas

A

MEN2B

67
Q

Pits on palms or soles

A

NBCCS

68
Q

Telangiectasias near surface of skin

A

Ataxia telangiectasia

69
Q

Inherited cases vs. sporadic of Retinoblastomas

A

40% - inherited

60% - sporadic

70
Q

Retinoblastoma in infants is associated with

A

a 400-fold increased risk for development of other cancers in adult life (much higher risk if child received radiotherapy)

Often develop mesenchymal tumors including osteogenic sarcomas, fibrosarcomas, and melanomas

71
Q

t(8;14)

A

Burkitt’s lymphoma, result of an apparently balanced t(8:14) chromosome translocation. Moves the MYC proto-oncogene to be placed downstream of a strong, constitutive promoter belonging to another gene

72
Q

Proto-oncogenes

A

MET, RET, MYC

73
Q

VHL subtype 2C

A

Only increased risk for pheos (not hemangioblastoma or RCC)

74
Q

Percentage of MTC that is hereditary vs. sporadic

A

25% = hereditary
75% = sporadic
(10% of all thyroid cancer is medullary)

75
Q

Hamartomatous polyps

A

PJS and Cowden

76
Q

Adenomatous polyps

A

FAP, MYH polyposis, PJS, JPS, Hereditary mixed polyposis

77
Q

Juvenile polyps

A

JPS (atypical ones seen in Hereditary mixed polyposis)

78
Q

Hereditary Mixed polyposis types of polyps

A

Atypical juvenile, adenomatous, benign colonic lesions, metaplastic, inflammatory

79
Q

GI tract - location of polyps

A

PJS, JPS, Cowden

80
Q

Most polyps in small intestine

A

PJS

81
Q

Stomach to rectum an dGI Tract

A

JPS

82
Q

Colon = location of polyps

A

FAP, MUTYH, Hereditary mixed polyposis

83
Q

Clear cell renal cancer

A

VHL (bilateral/multifocal) or HLRCC (solitary)

84
Q

Papillary renal cancer

A

Hereditary papillary (bilateral/multifocal), Type II papillary in HLRCC (solitary)

85
Q

Chromophobe, hybride chromophobe/oncocytoma

A

BHD (bilateral/multifocal)

86
Q

Malignant peripheral nerve sheath, plexiform neurofibroma, optic glioma

A

NF1

87
Q

Schwannoma, meningioma, spinal cord glioma

A

NF2

88
Q

Schwannoma

A

Schwannomatosis

89
Q

Plexiform neruofibroma, optic glioma, brain stem or cerebral glioma, malignant peripheral nerve sheath tumors, pheochromocytoma

A

NF1

90
Q

Renal cysts or angiomyolipomas, retinal nodular hamartomas, subenpendymal nodules, cortical tubers, giant cell astrocytomas, lymphangiomyomatosis

A

Tuberous Sclerosis

91
Q

c-cell hyperplasia

A

RET mutations

92
Q

MTC, pheos, hyperparathyroidism

A

MEN2B

93
Q

Sarcoma, brain tumor, breast CA, leukemia, adrenocoritcal carcinoma, choroid plexus tumor

A

Li-Fraumeni

94
Q

Genotype-phenotype correlations with MSH6 and PMS2

A

MSH6: ~30% less risk for colon cancer, predominance of endometrial cancer

PMS2 heterozygote: low penetrance

PMS2 homozygotes: very early onset CRC, duodenal CA, leukemia, lymphoma, childhood brain tumors, cafe au lait spots

95
Q

Sarcoma

A

Tumor arises in mesenchymal tissue such as bone, muscle, connective tissue, or nervous system tissue

96
Q

Carcinoma

A

tumor arises in epithelial tissue, such as the cells lining the intestine, bronchi, or mammary ducts

97
Q

Hematopoietic or lymphoid neoplasm

A

Neoplasm that spreads throughout the bone marrow, lymphatic system, and peripheral blood

98
Q

Oncogene

A

Mutant gene of a proto-oncogene that facilitates malignant transformation by stimulating proliferation or inhibitin apoptosis.

“Activation” is the transformation from proto-oncogene to oncogene

Activation typically occurs in somatic cells

Effect at cellular level = dominant

99
Q

Gatekeeper tumor-suppressor gene

A

Controls cell growth and blocks tumor dvelopment by regulating the transition of cells through checkpoints in the cell cycle or by promoting programmed cell death.

Directly controls cell division and survival

LOF mutations lead to uncontrolled cell accumulation

Examples: RB1, TP53

100
Q

Caretaker Tumor Suppressor

A

Protects the integrity of the genome

LOF mutations permits mutations to accumulate in oncogenes and gatekeeper genes, which go on to initiate and promote cancer development (indirectly allows cancer formation)

Example: MLH1, MSH2

101
Q

Tumorigenesis

A

1) Normal tissue cell receive proliferative signals
2) Normal tissue becomes a pre-cancerous lesion
3) Early cancer forms
4) Malignant Cancer

102
Q

DCIS

A

NO ABILITY TO METASTASIZE

About 30% chance of invasive breast cancer if left untreated

103
Q

Shagreen patches

A

Tuberous Sclerosis Complex

104
Q

TSC1, TSC2

A

Tuberous Sclerosis Complex

105
Q

PRKAR1A

A

Carney complex

106
Q

Myxomas, thyroid carcinoma, sertoli cell tumors, breast, endocrine, spotty skin pigmentations, mucosal pigmentation, psammomatous melanotic schwannoma, blue nevi

A

Carney complex

107
Q

Bilateral acoustic Schwannoma

A

NF2

108
Q

Macrocephaly, polyposis, lipomas, pigmented macules of the glans penis

A

Bannayan-Riley-Ruvalcaba (PTEN)

109
Q

CT nevi, disproportional overgrowth, dysregulated adipose tissue, vascular malformation, risk of ovarian or parotid tumor in 2nd decade

A

Proteus syndrome (PTEN)

110
Q

Mucocutaneous facial and oral papules, gingival cobblestonine, acral keratosis, dystrophic and adenomatous multinodular goiter, GI polyps, adenosis and fibrocystic breast lesions, macrocephaly, dolichocephaly, lipomas, GU anomalies, breast, thyroid, and endometrial cancer

A

Cowden syndrome (PTEN)

111
Q

PITCH1 and SUFU

A

Nevoid Basal Cell Carcinoma Syndrome (Gorlin)

112
Q

Paragangliomas

A

tumors of the sympathetic nervous system (commonly head, neck, thorax, abdomen).

97% are benign and will not metastasize

113
Q

Carney Triad

A

1) Gastric leiomyosarcoma
2) pulmonary chondroma
3) adrenal adenoma

114
Q

PRKAR1A

A

Carney complex

115
Q

FLCN

A

BHD

116
Q

“fried egg” appearance of nuclei

A

papillary type II RCC - found in HLRCC

117
Q

CDKN2A mutations

A

Hereditary melanoma (20-40% of hereditary cases)

118
Q

CDK4

A

Hereditary melanoma

119
Q

Malignant melanoma in one or more FDR or SDR

> 50 nevi (some atypical)

A

Familial Atypical Multiple Mole Melanoma (FAMMM)

Caused by CDKN2A or CKD4

120
Q

Extreme photosensitivity, premature skin aging

A

Xeroderma Pigmentosum (AR)

121
Q

Immunodeficiency, progressive cerebellar ataxia, enhanced sensitivity to radiation, leukemia, lymphoma

A

Ataxia Telangiectasia

122
Q

Hyperpigmentation, CAL, thumb anomalies, other skeletal anomalies, small stature, low birth weight, microcephaly, renal anomalies, hypogenitalism, strabismus, microophthalmia, hyperreflexia, ID, ear anomalies and/or deafness, CHD

A

Fanconi Anemia

123
Q

Fanconi Genes (besides FANC ones)

A

BRCA2, BRIP1, PALB2, RAD51C, SLX4

124
Q

Retinoblastoma

A

RB1 mutations, AD inheritance, classic two hit hypothesis

125
Q

Pinealoma or primitive neuroectodermal tumors of the brain, osteosarcomas, soft tissue sarcomas, melanoma

A

Retinoblastoma related tumors

126
Q

FWT1 and FWT2

A

Wilms tumor

127
Q

Conditions associated with Wilms tumors

A

FWT1, FWT2, BWS, Isolated hemihyperplasia, WAGR, Denys Drash, Li-Fraumeni

128
Q

Constitutional mismatch repair deficiency

A

Biallelic mutations in genes that cause Lynch syndrome (MLH1, MSH2, MSH6, and PMS2)

MLH1/MSH2 - earlier onset, higher hematological prevalence

MSH6/PMS2 - later (~9) onset, higher brain/LS tumor prevalence

129
Q

MET

A

Papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers

130
Q

Absence of MLH1 and PMS2 could be:

A

MLH1 germline mutation or MLH1 promoter hypermethylation (rule out through BRAF testing)

131
Q

Absence of just PMS2 could be

A

MLH1 germline mutation or PMS2 germline mutation

132
Q

Absence of MSH2 and MSH6 could be

A

MSH2 germline mutation or EPCAM germline mutation (EPCAM is just upstream of MSH2, 3’ EPCAM deletions can lead to absence of MSH2 expression)

133
Q

Absence of just MSH6 could be

A

MSH6 germline mutation

134
Q

Choroid Plexus Carcinoma

A

Li-Fraumeni

BOARDS (6 decks)

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