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Cancer > Cancer Midterm > Flashcards

Cancer Midterm Flashcards

1
Q

Most common hereditary cancer syndrome

A

Lynch

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2
Q

Ascending colon is on the [ ] side

A

right

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3
Q

What % of CRC is hereditary?

A

5-10%

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4
Q

What % of CRC is familial?

A

30% (high compared to other cancers)

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5
Q

What are possible reasons for familial cancers?

A

Environment, low/moderate penetrance alleles, polygenic mechanism, chance

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6
Q

General pop lifetime risk for CRC?

A

5%

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7
Q

Sporadic cancer

A

No known inherited risk component in the cancer etiology. Not related to other cancers in the family.

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8
Q

Hereditary cancers

A

single gene, genetic predisposition, high penetrance, limited environmental role

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9
Q

Increased risk factors for CRC

A

male, obesity, diabetes, alcohol, tobacco, red meat, processed meat, bbq meat, IBD, family hx

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10
Q

Decreased risk factors for CRC

A

physical activity, fiber, folate, calcium, aspirin

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11
Q

What cancer seems to be highly tied to diet?

A

CRC

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12
Q

Increased risk of CRC with affected first degree relative

A

2-3x (10-15%)

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13
Q

Polyposis syndromes

A

FAP, MAP, Peutz-Jegher’s Syndrome, Juvenile Polyposis, Hyperplastic Polyposis, Hereditary Mixed Polyposis

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14
Q

Non polyposis CRC

A

Lynch

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15
Q

Lynch CRC and endometrial onset

A

40-45. Early, but variable

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16
Q

Other cancers related to Lynch

A

urinary tract, ovary, stomach, small bowel, hepatobiliary, brain, sebaceous skin

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17
Q

Lynch gene classification

A

mismatch repair genes (MMRs)

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18
Q

Lynch genes

A

MLH1, MSH2, MSH6, PMS2

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19
Q

Most common lynch mutations are in

A

MLH1 and MSH2

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20
Q

What are the two “strong” lynch genes?

A

MLH1 and MSH2

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21
Q

MLH1 dimerizes with?

A

PMS2

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22
Q

MSH2 dimerizes with?

A

MSH6

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23
Q

What does an EPCAM mutation do?

A

3’ deletion shuts off MSH2 via epigenetic silencing

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24
Q

risk of colon cancer with Lynch

A

50-80% (lower for MSH6 and PMS2, but NCCN groups them all together)

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25
Q

most common endometrial cancer

A

endometriod, which is an adenocarcinoma

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26
Q

Lynch ovarian cancer pathology

A

epithelial forms other than serous

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27
Q

why do tumor testing in Lynch?

A

establish probability of Lynch, identify genes (without expensive genetic tests), targeted therapy

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28
Q

MSI

A

Microsatellite instability. 90% of Lynch tumors show this

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29
Q

Is abnormal IHC a diagnosis of Lynch syndrome?

A

No. Lynch defined by germline mutation of 5 lynch genes

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30
Q

What could mimic Lynch?

A

acquired hypermethylation of MLH1 promoter (shuts off MLH1. Not inherited. Note that this does not rule out Lynch 100%).

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31
Q

BRAF

A

A mutation that causes cell proliferation in many cancers. Thought to be rare in Lynch, so used to rule out Lynch

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32
Q

Lynch gene testing criteria

A

Amsterdam (very strict). Bethesda (less strict, still misses lots of families)

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33
Q

Muir Torre

A

Colorectal neoplasia and sebaceous skin tumors. Mostly due to MSH2

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34
Q

Turcot

A

Colorectal neoplasia and CNS tumors. Could be APC or MMR genes

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35
Q

Lynch management

A

C’spy q 1-2 y starting at 20-25. Endometrial screening? (controversial)

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36
Q

Cancer risk reduction in Lynch

A

Colectomy, hysterectomy, salpingo-oopherectomy

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37
Q

MSI high tumor tx

A

Higher survivorship, don’t respond as well to standard chemo, but promising findings for immunotherapy

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38
Q

Lynch preventative drugs

A

oral contraceptives for ovarian and endometrial cancer. High doses of aspirin for CRC

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39
Q

Cancer death stats

A

Almost 1/4 of deaths in US, exceeded only by heart disease

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40
Q

Cancer lifetime risk

A

1 in 2 men and 1 in 3 women

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41
Q

Most common cancer sites

A

prostate/breast, lung, colorectal (in order)

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42
Q

Site associated with highest cancer deaths

A

lung

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43
Q

Incidence

A

number of newly diagnosed cases in a particular time period

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44
Q

prevalence

A

total number of cases (includes survivors)

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45
Q

mortality rate

A

frequency of occurrence of death in a defined population in a defined interval

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46
Q

SEER

A

collects information on incidence, prevalence and survival from specific geographic areas representing 28 percent of the US population and compiles reports on all of these plus cancer mortality for the entire country.

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47
Q

what is cancer?

A

diseases in which abnormal cells divide without control, leading to a mass or tumor that can invade other tissues.

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48
Q

What is a tumor?

A

mass of abnormal cells

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49
Q

benign tumors

A

no not have ability to invade other tissues but may cause symptoms due to position

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50
Q

malignant tumors

A

capable of invading other tissues

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51
Q

carcinoma

A

cancer that begins in epithelial tissue (skin, tissues that line or cover internal organs). Think tubes

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52
Q

sarcoma

A

cancer that begins in connective and supporting tissues (bone, cartilage, fat, muscle, blood vessels)

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53
Q

Hematopoietic and lymphoid

A

spread throughout the blood, lymphatic system or bone marrow (leukemia, lymphoma)

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54
Q

Melanoma

A

arise in pigmented ectodermal cells

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55
Q

Stages of carcinogenesis

A

initiation, promotion, tumor progression

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56
Q

Initiation

A

mutation in single cell. Reversible (can be inherited, but most often is somatic)

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57
Q

Promotion

A

further errors in cell division or exposure to promoting agents such as hormones promote growth. Precancerous, possibly still reversible

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58
Q

Progression

A

Irreversible now. Mutations accumulate b/c rapid cell division. Eventually tumor is fully malignant cells, some with metastatic capabilities.

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59
Q

Metastasis

A

Malignant cells undergo further changes to become metastatic. Cell must be able to separate from the primary tumor, enter into circulatory or lymphatic system, escape the immune system, enter the target organ, attach to the surface of the new tissue site, proliferate cells to create a new tumor, provide nourishment for the new mass.

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60
Q

Common metastasis sites

A

Lung, liver, bone, CNS

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61
Q

Tumor grade

A

How abnormal are the cells? How different from the surrounding cells?

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62
Q

Low grade tumor

A

Well differentiated- only minor differences from surrounding cells

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63
Q

High grade tumor

A

Moderate or poor differentiation- does not resemble surrounding cells. Nomenclature can differ based on organ.

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64
Q

clinical stage

A

location. degree of metastases. I-IV

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65
Q

Staging TNM system

A

Used for solid tumors
T: size/appearance
N: lymph node involvement
M: extent of metastases

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66
Q

carcinoma in situ

A

early form of carcinoma defined by the absence of invasion of surrounding tissues. “Stage 0”

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67
Q

cause of cancer

A

mutations in genes that regulate cell growth and cell death

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68
Q

Proto-oncogene

A

gene involved in some aspect of cell proliferation. May become activated by gain-of-function mutation to become an oncogene.

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69
Q

Oncogene

A

dominantly acting gene responsible for tumor formation. ONE mutation enough to lead to cancer.

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70
Q

tumor suppressor genes

A

Encode proteins that negatively regulate growth of cells (i.e. stop growth of damaged cells). Inactivation of BOTH copies leads to cancer development. Dominant in terms of inheritance, but recessive in terms of molecular mechanism. Two hit hypothesis.

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71
Q

Knudson’s two hit hypothesis explains

A

early onset, multiple primaries, dominant inheritance with incomplete penetrance

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72
Q

mismatch repair genes

A

inactivation of genes involved in DNA repair leads to accumulation of DNA errors in cell. If these occur in proto-oncogenes or tumor suppressor genes, could result in tumor formation

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73
Q

How much of cancer is hereditary?

A

About 10%

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74
Q

Familial/multifactorial cancer characteristics

A

combo of genetic and environmental, number of cancers in family more than expected and/or younger ages

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75
Q

Hereditary cancer characteristics

A

Most cancers in family due to single genetic factor. Early onset. Same or related cancers. Multiple primaries. Rare cancers. Associated anomalies. Known ethnic risk.

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76
Q

colorectal polyps

A

overgrowth of epithelial cells

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77
Q

3 morphologies of polyps

A

pedunculated (mushroom), sessile (fingers), flat

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78
Q

which polyps have highest cancer risk?

A

adenomas

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79
Q

adenomatous polyp histology

A

tubular (often pedunculated, with tubes)
villous (often sessile, with branches)
tubulovillous (combination of both)

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80
Q

which adenomas have highest risk of becoming cancer?

A

Villous

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81
Q

hamartomatous polyps

A

mix of tissues, low malignant potential, relatively common. Associated with P-J syndrome, Cowden, and juvenile polyposis syndrome.

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82
Q

hyperplastic polyps

A

benign lesions (exception: sessile serrated). Increased number of normal, organized cells. Still usually removed to confirm normalcy.

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83
Q

sessile serrated

A

rare, precancerous hyperplastic polyp.

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84
Q

inflammatory polyps

A

pseudopolyps. Seen with IBD. not malignant

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85
Q

familial adenomatous polyposis mutations

A

APC mutations. 1/3 de novo

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86
Q

FAP cancer risk and onset

A

100s to 1000s of adenomatous polyps. Mean polyposis onset is 16. Mean CRC onset is 39. 100% lifetime risk of cancer. Colectomy required.

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87
Q

Other findings in FAP

A

desmoid tumors, osteomas, soft tissue tumors, CHRPE, dental abnormalities

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88
Q

Four “forms” of FAP

A

FAP, AFAP, Gardner, Turcot

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89
Q

AFAP

A

Average of 30 polyps, later onset of CRC, lifetime CRC risk is 80-100%, no CHRPE, some different mutations in APC

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90
Q

Gardner syndrome

A

FAP plus soft tissue tumors and osteomas

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91
Q

Turcot

A

CRC and CNS tumors (usually medulloblastoma)

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92
Q

I1307K mutation

A

In APC. Does not mean you have FAP. Common in AJ pop. Slight increase in CRC risk. Start c’spy at 40, every 5 yrs

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93
Q

MUTYH-associated polyposis

A

MAP. Autosomal recessive. Similar to FAP/AFAP phenotype. 80% CRC risk

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94
Q

MUTYH gene

A

DNA repair of oxidative damage.

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95
Q

Juvenile Polyposis Syndrome polyps and cancer risk

A

Most common hamartomatous polyp syndrome. Most polyps benign. Polyps vary significantly, even in same family. Risk of GI cancers 9-50%.

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96
Q

JPS gene(s)

A

BMPR1A, SMAD4

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97
Q

Cancers associated with Cowden

A

Breast, endometrial, thyroid, kidney, colorectal (9%)

98
Q

Cowden syndrome associated findings

A

Lhermitte Duclos, macrocephaly, penis pigmentation, mucocutaneous lesions, autism, ID, lipomas

99
Q

Peutz-Jeghers gene

A

STK11

100
Q

Peutz-Jeghers manifestations

A

mucocutaneous hyperpigmentation of mouth, face, fingers, genitals. Hamartomatous polyps of GI tract. GI, CRC, and breast cancers. Intussusception.

101
Q

Hereditary Mixed Polyposis Syndrome

A

Mixed polyp types, usually not explained by genetic testing

102
Q

Serrated Polyposis syndrome

A

highly variable presentation, increased risk of early onset CRC, no known genetic cause

103
Q

NCCN and ACS consider a woman at increased risk of breast cancer if

A

1) she has a history of breast cancer

2) she is at 20% or greater lifetime risk of developing breast cancer based on modeling (largely dependent on family hx)

104
Q

breast cancer screening recommendations for high risk women

A

annual mammo and MRI, alternating every 6 mo. MRI at 25, mammo at 30. (or 10 years before youngest family member?). Breast awareness. Consider risk-reducing options.

105
Q

relative risk

A

(incidence in those with the risk factor) / (incidence in those without the risk factor)

106
Q

cumulative risk

A

risk by a certain timepoint. Ex. lifetime risk

107
Q

Age related penetrance

A

usually the chance of developing cancer in a certain age interval. Like, if you don’t have cancer by 30, what’s the chance you’ll develop it by 40.

108
Q

Gail model characteristics

A

for breast cancer. very little family history used. some hormonal hx

109
Q

Claus model characteristics

A

for breast cancer. uses family history. no hormonal or pathology hx

110
Q

risk model that works for people WITH breast cancer

A

BRCAPro. Estimates prob of having a BRCA mutation and for developing breast and some other cancers.

111
Q

boadicea risk model

A

prob for BRCA mutation and breast cancer. UK pop. Includes lots of fam hx, tumor path, and prior genetic testing

112
Q

Tyrer-Cuzick model

A

hereditary, hormonal, and path factors. Used often in PRS. Tends to overestimate risk.

113
Q

Polygenic risk score

A

A liklihood ratio is created from various SNPs. Multiply baseline risk by this ratio. Idea is that any small number of tiny-risk SNPs won’t change risk/management, but combination of 100s or 1000s might.

114
Q

polygenic risk score output

A

odds ratio, which must be converted to absolute or cumulative risk or something like that that is useful in clinic

115
Q

odds ratio

A

the odds of A in the presence of B and the odds of A without the presence of B.

116
Q

in situ breast cancers

A

“stage 0.” Some people call these precancers. Others don’t. DCIS is intraductal. treated with lumpectomy and radiation. LCIS is not a cancer. Lobular. Not treated, just watched.

117
Q

most common invasive breast cancer

A

IDC

118
Q

breast cancer path markers

A

Estrogen, progesterone, Her2

119
Q

BRCA is what type of gene?

A

tumor suppressor. repairs damaged DNA.

120
Q

Features of BRCA mutation

A

early onset cancer, multiple cases of BC, ovarian cancer, breast and ovarian cancer in same woman, bilateral BC, male BC, AJ heritage, triple negative, prostate/melanoma/pancreatic cancers

121
Q

BRCA1 lifetime risks

A

For women: 50-85% BC, 3%/year second primary BC, 30-54% ovarian
Male: 1% BC (10x gen pop), prostate increased

122
Q

BRCA1 lifetime risks

A

For women: 50-85% BC, 3%/year second primary BC = 40-6-%, 30-54% ovarian
Male: 1% BC (10x gen pop), prostate increased

123
Q

BRCA2 lifetime risks

A

For women: 56-85% BC, 20-30% ovarian cancer

Men: 6-8% BC, prostate increased

124
Q

Gen pop BC lifetime risk

A

12%

125
Q

Gen pop ovarian lifetime risk

A

1.5%

126
Q

BRCA1 BC path

A

often ER/PR -

127
Q

BRCA2 BC path

A

often ER/PR +

128
Q

BRCA Ovarian path

A

papillary serous. Prognosis better than for sporadic cancer. Fallopian tube cancer more common.

129
Q

Breast cancer high risk surveillance for men

A

breast self exams at 35, clinical breast exams every 6-12 months. Prostate cancer surveillance at 40 instead of 50

130
Q

risk reduction in BRCA women with mastectomy

A

> 90%

131
Q

tamoxifen mechanism

A

blocks hormone receptors, so best with BRCA2

132
Q

chemoprevention for ovarian cancer

A

5 years of oral contraceptives. Best in 20s and 30s. 50% risk reduction in general pop. 60% risk reduction in BRCA1/2 positive women

133
Q

surveillance for ovarian cancer

A

no reliable, standard methods. Can do ultrasound and blood tests.

134
Q

risk reducing oophorectomy

A

reduces risk for ovarian cancer by 90% (peritoneal carcinomatosis still possible). 17% of time, cancer is found already when ovaries are removed.

reduces risk for breast cancer by 50% in premenopausal women with BRCA1/2 mutations (because of hormones)

135
Q

Melanoma associated with

A

BRCA2 mutations

136
Q

true negative

A

negative for known family mutation

137
Q

When was BRCA identified?

A

1 in 1994, 2 in 1995

138
Q

Percent of breast cancer that’s hereditary

A

10%

139
Q

Percent of hereditary breast cancer due to BRCA

A

up to 50%

140
Q

Percent of hereditary breast cancer due to known genes other than BRCA

A

up to 30%

141
Q

most likely path for BRCA1 BC

A

triple negative

142
Q

high risk breast cancer genes

A

BRCA1, BRCA2, CDH1, PTEN, TP53

143
Q

moderate risk breast cancer genes

A

ATM, CHEK2, PALB2, NF1

144
Q

cancers associated with cowden

A

breast (up to 85%), thyroid (10%), endometrial (up to 30%), and benign hamartomatous growths of skin, colon, thyroid, etc.

145
Q

clinical features of cowden

A

autism, intellectual disability, macrocephaly, lipomas, fibromas (lumps and bumps),

146
Q

pathognomonic criteria for cowden

A

Lhermitte Duclos. >3 Trichilemmomas (benign tumor of face/hair line)

147
Q

Cowden gene(s)

A

PTEN (30-35%), KLLN (30%), SDHX (?10%). Usually a clinical dx

148
Q

cowden management

A

annual mammo and MRI at 30-35 or 5-10 before earliest relative. Consider RRBM. Consider hysterectomy after childbearing. Annual thyroid u/s starting at 18, c’spy at 35, every 5 yrs, annual derm exam, consider renal u/s at 40

149
Q

Li-Fraumeni gene

A

P53. Auto dom. Checkpoint gene

150
Q

Li-Fraumeni lifetime cancer risk

A

women: 90%
men: 70%
50% risk by age 30
early onset, multiple primaries

151
Q

Li-Fraumeni core cancers

A

breast (onset in 20s, +/+/+)
sarcoma (soft tissue, bone, mean age 15)
brain (choroid plexus tumors and others)
adenocortical carcinoma (mean age 4, hallmark)

152
Q

Li-Fraumeni criteria

A

classic (strict) and Chompret

153
Q

Li-Fraumeni management

A 
since Malkin 2011 extensive screening recommended. Early tumor detection improves survivorship.
Annual mammo/MRI at 20
Consider RRBM
Brain MRI yearly
abdominal u/s 3-4 months
rapid whole body MRI yearly
physical exam 3-4 months
c'spy at 25, q 2 years
blood tests q 3-4 months
derm exam yearly
154
Q

CHEK2 role

A

cell cycle control and apoptosis

155
Q

CHEK2 cancer risks

A

2-3x risk for BC. Consider MRI and tamoxifen. Increased risk of colon, prostate, thyroid. Mutation doesn’t always track with cancers in the family.

156
Q

ATM

A

Autosomal recessive Ataxia Telangiectasia. Carriers have a 20-45% risk of BC. Carrier frequency is 1%

157
Q

PALB2

A

Partner and Localizer of BRCA2. BC risk 17-58%. 40% are triple negative

158
Q

Average risk mammo recs

A

Depending on organization: q 1-2 yrs starting between 40 and 50

159
Q

Lynch tumor characteristics

A

MSI high, IHC absence, high mutation tumor burden

160
Q

MEN1 gene

A

Menin

161
Q

MEN1 cancers

A

Pancreatic cancer: Islet cell/ neuroendocrine

162
Q

MEN1 noncancer

A 
Parathyroid adenoma
Pituitary adenomas
Adrenocortical tumors
Hypercortisolism 
Hyperaldosteronism
Carcinoid tumors
Angiofibromas, collagenomas, lipomas,  meningiomas, ependymomas, leiomyomas
Paragangliomas
163
Q

MEN1 surveillance

A

Annual prolactin, PTH, calcium testing beginning btw age 5-10
Head MRI every 3-5 yr
Abdominal MRI or CT every 3-5 yr

164
Q

VHL cancer

A

Renal clear cell carcinoma (40% lifetime risk)

165
Q

VHL noncancer

A 
Pheochromocytoma
Hemangioblastomas
Endolymphatic sac tumors
Vision loss (retina heman.)
Anxiety, heart palpitations, high blood press
166
Q

VHL Surveillance

A 
Annual opthalmology by age 5
Annual blood pressure and urinary catecolemine metabolites by age 5
Annual abnominal US by age 16
Audiological Exam
Avoid tobacco
167
Q

MEN2 gene

A

RET

168
Q

MEN2 Cancer

A

Medullary thyroid cancer- commonly papillary path

169
Q

MEN2 noncancer

A

Pheochromocytoma
Parathyroid adenoma/hyperplasia
Paragangliomas

170
Q

MEN2 Surveillance

A

Determine age to remove thyroid by risk level (A-D system)

171
Q

MEN2 subtypes

A

FMTC
Thyroid cancer only, by middle age
MEN 2A
Pheo, parathyroid adenoma, MTC in early adulthood
MEN 2B
Pheo, mucosal neuromas, MTC in early childhood

172
Q

Pheos produce?

A

Catecholamines: epinephrine, norepinephrine, dopamine

173
Q

Manifestation of hyperpapathyriodism?

A

Hypercalcemia

174
Q

Biochemical screen for thyroid?

A

calcitonin

175
Q

Hereditary Paraganglioma and Pheochromocytoma (HPGL/PCC) genes

A

SDH genes- part of electron transfer in mt membrane

176
Q

Hereditary diffuse gastric cancer gene

A

CDH1

177
Q

CDH1 cancers

A

Gastric cancer (50-80% lifetime)
Lobular breast cancer (40-50% lifetime)
Possibly CRC

178
Q

CDH1 surveillance

A

Gastric cancer screening not very effective. RR gastrectomy recommended between age 18 and 40.
Annual breast MRI and mammo start at 30

179
Q

RB1 surveillance

A

Exam under anesthesia every 4 weeks until age 1, less frequently until age 3, every 3-6 months until 7, every 1-2 years for life

180
Q

RB unilateral vs bilateral

A

60% unilateral (but 15% of these have germline variant)

40% bilateral

181
Q

RB1 secondary malignancies

A

soft tissue sarcomas, osteosarcomas, brain tumors, melanomas, Hodgkin’s, breast, lung, leiomyosarcoma (substantially increased with rx)

182
Q

bone marrow failure

A

when bone marrow does not make enough healthy blood cells for body’s needs

183
Q

Aplastic anemia

A

quantity issue- shortage of blood cells

184
Q

Myelodysplastic

A

quality issue - abnormal blood cells

185
Q

Fanconi Anemia features

A

Short stature, thumb abnormalities, small facial features, CALs

186
Q

Fanconi Anemia Dx

A

DEB breakage studies (will show defective repair mechanism)

187
Q

Dyskeratosis Congenita features

A

dysplastic nails, lacy skin on chest, oral leukoplakia

188
Q

Dyskeratosis Congenita Dx

A

telomere length test

189
Q

Prostate cancer genes

A

BRCA2, HOXB13, Lynch genes

190
Q

Fanconi Anemia cancers

A

AML, head and neck squamous cell carcinomas

191
Q

Constitutional Mismatch Repair Deficiency cancers

A

Young hematologic malignancies, brain cancers

192
Q

Normal tissue staining in CMMR-D?

A

Absent staining in normal tissue, not just tumor (which is what we would see in Lynch)

193
Q

DICER1

A

childhood lung cysts. Pleuropulmonary blastoma, ovarian sex cord tumors, cystic nephroma

194
Q

paraganglioma

A

neuroendocrine tumor impacting sympathetic nervous system (fight/flight/homeostasis)

195
Q

Lynch other cancers

A

“Endometrial: 25-60%
Gastric: 6 -13%
Ovarian: 5-10%”

196
Q

FAP other cancers

A

GI, thyroid, pancreas, hepatoblastoma

197
Q

FAP de novo rate

A

20-33% de novo

198
Q

MAP carriers

A

“1-2% of pop are carriers
Carriers at some increased risk of CRC
Start c’spy at 40 if FHx CRC”

199
Q

PJS cancers

A 
Breast: 50%
CRC 40%
Pancreatic: 10-35%
Stomach: 30%
Ovary: 20%
Others: lung, small intestine, cervix, uterus
200
Q

What condition has endometrial but not ovarian cancer?

A

Cowden

201
Q

Prostate cancer genes

A

HOXB13, Lynch, HBOC, some moderate breast genes

202
Q

Pancreatic genes/syndromes

A

FAP, FAMM, PJS, HBOC, PALB2, MEN1, Lynch, NF1, JPS, VHL, Li-Fraumeni

203
Q

CDH1 cancers

A

40-50% lifetime risk of breast cancer, primarily lobular. Gastric: 50-80%

204
Q

VHL features

A

“Renal clear cell carcinoma- 40% lifetime risk
Hemangioblastomas- CNS, retina
Pheos- norepinephorin
Endolymphatic sac tumors- hearing loss, vertigo
Pancreatic neuroendocrine tumors (PNETs)
Various cysts”

205
Q

MEN1 features

A

“Parathyroid- Hyperparathyroidism -> hypercalcemia (lethargy, depression, confusion, nausea, kidney stones, bone fractures (90% by 25y)
Pituitary- prolactinomas, adenomas (10-60%)
Pancreas- islet cell (aka neuroendocrine) cancer (30-75%)
Carcinoid tumors
Adrenocortical tumors
Various lumps, bumps, tumors

206
Q

RET gene

A

“Oncogene
For MEN2: GoF mutations, all missense
Genotype-phenotype well established (subtypes)
For Hirschsprung: LoF

207
Q

FMTC

A

Medullary Thyroid Cancer (MTC) only, 100% by middle age

208
Q

MEN2a

A

Pheo 50% (metanepherine)
Parathyroid adenoma/ hyperplasia 20-30%
MTC early adulthood 95%

209
Q

MEN2b

A 
Pheo 50% (metanepherine)
Mucosal neuromas
MTC in early childhood 100%
Ganglioneuromas in GI
Marfanoid
210
Q

Hereditary Paraganglioma and Pheochromocytoma

A

“Renal clear cell carcinoma

Papillary thyroid carcinoma”

211
Q

Fanconi Anemia molecular info

A

“Crosslink repair genes

Note biallelic BRCA2, PALB2, BRIP1, RAD51C are causes”

212
Q

Fanconi Anemia features

A

“AML: 10-30%

Macrocytosis, increased HbF, cytopenia, progressive BMF, aplastic anemia, may also develop myelodysplastic”

213
Q

Fanconi Anemia dx

A

Chromosome breakage studies (DEB)

214
Q

Dyskeratosis Congenita genes

A

DKC1 (X-linked), TERT, TERC

215
Q

Dyskeratosis Congenita desc

A

“85% risk of bone marrow failure (aplastic anemia), MDS, AML
Classic triad: dysplastic nails, lacy pigmentation on chest/neck, oral leukoplakia
Pulmonary fibrosis”
Increased risk head/neck/genital squamous cell carcinomas

216
Q

Dyskeratosis Congenita dx

A

Telomere length study- flow FISH

217
Q

Birt Hogg Dube syndrome (BHD) gene

A

FLCN

218
Q

Birt Hogg Dube syndrome (BHD) features

A

“90% of pt with lung blebs, which can cause spontaneous pneumothorax
30% of pts with chromophobe renal cancer
Most have fibrofolliculomas

219
Q

Hereditary Leiomyotosis Renal Cell Carcinoma (HLRCC) gene

A

FH

220
Q

Hereditary Leiomyotosis Renal Cell Carcinoma (HLRCC) desc

A

Fibroids, typically requiring early hyst

Renal cell carcinoma- papillary type II (aggressive)

221
Q

Hereditary Papillary Renal gene

A

MET (Proto-oncogene)

222
Q

Hereditary Papillary Renal desc

A

“Renal cell carcinoma- papillary type I

Onset typ. middle age”

223
Q

DICER1 Syndrome desc.

A

“Cancerous: pleuropulmonary blastoma (childhood)

Typically benign: cystic nephroma (childhood), Sertoli-Leydig cell tumors (young women), goiter”

224
Q

Tuberous Sclerosis gene

A

TSC1, TSC2

225
Q

Tuberous Sclerosis inher and molecular

A

AD, “70% sporadic, most of which are TSC2
30% familial, evenly split between TSC1/2
(TSC2 next to PKD1)”

226
Q

Tuberous Sclerosis desc.

A

“Skin - hypomelanotic macules, facial angiofibromas, shagreen patches/collengenomas, ungual fibromas
Brain - cortical tubers, subependymal nodules, giant cell astrocytomas (SEGAs), seizures, learning differences, variable ID
Renal- angiomyolipomas, cysts
Cardiac- rhabdomyoma (prenatally, resolve in childhood)
Lung- lymphangiomyomatosis (LAM) – (females)”

227
Q

Retinoblastoma features

A

Eye cancer, sometimes brain (pineal) cancer

228
Q

Xeroderma pigmentosum inher

A

AR

229
Q

Xeroderma pigmentosum features

A

“Basal cell carcinoma, squamous cell carcinoma
Melanoma
Ocular cancer
Neurologic (25% of cases): microcephaly, hearing loss, cognitive impairment, ataxia, seizure”

230
Q

Familial Atypical Multiple Mole Melanoma (FAMMM) genes

A

CDKN2A, CDK4

231
Q

Familial Atypical Multiple Mole Melanoma (FAMMM) desc

A

“Melanoma
Pancreatic cancer
Nerve sheath tumors”

232
Q

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) gene

A

PTCH1, SUFU

233
Q

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) desc.

A

“Basal cell carcinomas
>5 in lifetime
Early calcification of falx (x-ray skull <20y)
Jaw keratocysts (PTCH1)
palmar/plantar pits
Ovarian fibromas (not cancer)
Medulloblastoma (ped. brain cancer), mostly SUFU mutations”

234
Q

Ataxia Telangiectasia

A 
"Increased risk for leukemia and lymphoma
Immunodeficiency
Cerebellar ataxia starting around 1-4y
“Blood shot” eyes
Sensitivity to radiation"
235
Q

Rare recessive cancer syndromes

A

AT, CMMR, NBS, Bloom, XP

236
Q

Wilms Tumor genes and syndromes

A

FWT1, FWT2 and others, Also: overgrowth syndromes, WAGR, Denys Drash, Li-Fraumeni, Bloom

237
Q

CMMR gene

A

MLH1, MSH2, MSH6, PMS2

238
Q

CMMR desc

A

“Pediatric hematological malignancies
Pediatric brain tumors
Early onset CRC
CALMs”

239
Q

Bloom gene

A

BLM

240
Q

Bloom desc.

A

“Chromosome breakage syndrome- increased recombination events.
AJ founder mutation”
Telangiectatic skin rash following sun, small, learning disability, male infertility. Leukemia, lymphoma, Wilms tumor, oropharyngeal, GI, CRC, GU, breast, skin, and lung cancers

Cancer (1 decks)

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