Chapter 23- The Breast Flashcards

1
Q

What are the gene mutations commonly seen in breast cancer in the Ashkenazi Jew population

A

-BRCA1 and 2

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2
Q

What condition presents with Palpable periareolar mass with:

  • Thick, White nipple excretions
  • Skin retractions
  • no pain or erythema
  • 50-60 year old woman
A

Duct ectasia

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3
Q

IN the case of nonproliferative breast changes, what are the findings regarding diagnosis of the cysts

A

Mass will disappear with fine needle biopsy as the contents are removed

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4
Q

With regards to Proliferative breast disease without atypia, what are the findings for papillomas

A

-Large duct papillomas, with 80% producing discharge

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5
Q

What are the characteristics of Paget’s dissease and associations

A
  • Milagnant cells extend from the DCIS via the lactiferous sinuses into nipple skin without crossing the basement membrane
  • Allows ECF to seep into the nipple surface, with Paget cells being detected with nipple biopsy
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6
Q

How is DCIS most commonly found

A

Mammogram, usually due it calcifications with secretory material or necrosis

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7
Q

What are the three classifications of benign epithelial lesions

A

1) Nonproliferative breast changes
2) Proliferative breast disease without atypia
3) Proliferative breast disease with atypia

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8
Q

BRCA2 is associated with increased risk of which cancers

A
Male breast cancer
Prostatic and pancreatic carcinomas 
Melanoma
Gallbladder 
Bile duct
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9
Q

Which carcinoma has a diffuse infiltrative pattern with minimal desmoplasia,with signet ring cells with mucin droplets

A

Lobular carcinoma

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10
Q

What is the cause of the dimpling of the skin in the case of breast cancer

A

Carcinomas invade the pectoralis muscle or invade into the dermis

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11
Q

What is the risk of invasive carcinomas of the contralateral breast in DCIS

A

No risk/low risk

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12
Q

What is the most common subtype of breast cancer in patients with TP53 mutations

A

HER2 positive

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13
Q

What is the clinical presentation of lymphocytic mastopathy or sclerosing lymphocytic lobulitis

A

Single or multiple hard palpable masses or mammography can densities. Hard to obtain tissue via needle biopsy due to dense collagenized stroma

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14
Q

What are the morphological transition of HER2 positive cancers

A

Atypical apocrine adenosis

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15
Q

What is the risk of breast cancer if there is the presence of proliferative disease with atypia

A

4 to 5 times increased risk

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16
Q

Ashkenazi Jewish populations carry which mutations more commonly

A

1 in 40 carry:

  • 2 mutations in BRCA1
  • 1 mutations in BRCA2
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17
Q

What is the relative risk for those who had a child earlier in life

A

Lower risk (due to permanent changes in the terminal differentiation)

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18
Q

What is the most important prognosis of invasive carcinoma in the cause of metastasis.

A

Presence of metastasis to the axillary lymph nodes

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19
Q

What are the characteristics of the acute mastitis when caused by staphylococcal

A

Single or multiple abscesses

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20
Q

Which tumor marker set prognosis is irrelevant to size

A

ER-, HER+. (Metastasize when very small)

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21
Q

What is the state of differentiation in HER2+ tumors

A

Not well differentiated

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22
Q

What is the morphological transition changes seen in germline BRCA2 mutations

A

1) Flat epithelial atypia
2) Atypical ductal hyperplasia
3) Ductal carcinoma in-situ (DCIS)

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23
Q

What gene mutations are most responsible for familial breast cancers

A

BRCA1 and BRCA2 (80-90% of familial breast cancers)

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24
Q

What is the clinical presentation of fibroadenomas

A

-multiple, Bilateral and in the 20s-30s

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25
Q

What is the prognosis and treatment in the case of HER2 breast tumors

A

Antibodies to HER2 have lead to a very good prognosis

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26
Q

What grade is a tumor that has some tubular formation, but solid clusters or single infiltrating cells, with greater degree of pleomorphic and mitotic figures present

A

Grade 2

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27
Q

What grade is a tumor that has ragged nests or solid sheets of cells with enlarged irregular nuclei

A

Grade 3

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28
Q

What are the most common causes of palpable lesions of the breast

A

Cysts
Fibroadenomas
Invasive carcinomas

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29
Q

IN the case of nonproliferative breast changes, what are the findings regarding the adenosis

A

Increase in the number of acini per lobule:

-appearing as “flat epithelial atypia”

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30
Q

Which from of breast cancer is most common in older women and men

A

ER+, HER -, low proliferation

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31
Q

What is the prognosis of ER+, HER-, low proliferation

A

Good prognosis with most being cured with surgery with little risk of local recurrence

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32
Q

When adenocarcinomas are discovered, what is the state of majority of breast cancers with regards to the basement membrane

A

-majority (70%) have breached the basement membrane

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33
Q

What are the markers that are almost alsways expressed by LCIS

A
  • ER and PR

* never HER2

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34
Q

What are the descriptions a patient my describe nonproliferative breast changes

A

“Lumpy bumpy”

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35
Q

What tends to be the trend of prognosis of breast masses with regards to age

A

Younger women tend to have more benign compared to the malignant in older

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36
Q

What are the clinical presentations of fat necrosis of the breast

A

Similar to carcinoma in that:
-Painless palpable mass
-Skin thickening or retraction
-Mammography densities or calcifications
Aka firm, ill defined, grey-white nodules containing small chalky-white foci

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37
Q

What is the prognosis of Paget disease based on

A

The features of the underlying carcinoma

*Not affected by the presence or absence of DCIS

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38
Q

Which race has the highest mortality of breast cancer and what is the type most common

A

African American

-Agressive, ER-neg and high nuclear grade

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39
Q

ER-, HER- breast cancers are associated with which mutations

A

-BRCA1

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40
Q

BRCA1 is the common mutation seen in which tumors

A

Ovarian carcinoma

Prostatic and pancreatic carcinoma

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41
Q

What is the relation between risk of breast cancer and alcohol

A

Consumption increases the risk

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42
Q

Which form of ER+, HER-, high proliferation has a better prognosis

A

The one who have complete responsiveness to chemotherapy

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43
Q

What are the characteristics of the growth of lobular carcinoma in situ

A
  • Discohesive fashion due to the loss of E-Cadherin via the CHD1
  • can also occasionally be caused by catenin dysregulation
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44
Q

With regards to Proliferative breast disease with atypia, what are the findings for atypical ductal hyperplasia

A

Monomorphic proliferation of regularly spaced cells, sometimes in the cribriform plate

*Does not fill the entirely of the ducts, which separates if from carcinoma in situ

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45
Q

What are the determining factors in the prognosis of female breast cancer

A
  • biological features of the tumor

- Extend of tumor spread

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46
Q

What is the prognosis of ER+ tumors with distant metastasis.

A

Very bad

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47
Q

What is the clinical significance of Duct ectasia

A

Must be differentiated from invasive carcinomas

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48
Q

What is the rate of responsiveness to chemo in strongly ER+ carcinomas

A

Loss responsive

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49
Q

Which findings in medullary carcinoma are associated with between outcomes

A

Lymphocytic infiltrates

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50
Q

Where are most breast carcinomas located

A

Upper outer quadrant (50%)

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51
Q

What are the findings in the cause of nonproliferative breast changes

A
  • Cystic changes with apocrine metaplasia
  • Fibrosis
  • Adenosis
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52
Q

Which benign conditions are nipple discharge normal

A
  • Elevated prolactin
  • Hypothyroidism
  • endocrine anovulatory Syndromes
  • OC
  • dopamine antidepressants
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53
Q

What can be used to differente between the tumors fibroadenomas and Phyllodes tumor

A

Both benign but:

  • Fibros (20-30s) earlier than phyllodes (60s)
  • high cellularity
  • higher mitotic rate
  • nuclear pleomorphism
  • stromal overgrowth
  • infiltrative borders
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54
Q

Which form of nipple inversion is of most concern and what is the cause

A

Acquired nipple retraction since its a sign of potential invasive cancer or inflammatory disease

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55
Q

What is the state of differentiation in ER-,HER2 tumors

A

No well differentiated

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56
Q

What are the characteristics of micropapillary carcinomas

A

Anchorage independent growth, where they have E cadherin by lack the adhesion to the stroma

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57
Q

What is the prognosis of DCIS

A

Good, with 95% if women being cured with mastectomy

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58
Q

HER2+ cancers arise through a pathway that is strongly associated with which amplifications

A

HER2 gene on chromosome 17q

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59
Q

Which patients are more likely to have inflammatory carcinoma

A

African American women and younger women

60
Q

What are the two forms of Proliferative breast disease with atypia

A
  • atypical ductal hyperplasia

- atypical lobular hyperplasia

61
Q

What mutation is associated with medullary carcinomas

A

BRCA1

62
Q

Which cancers are associated with CHEK2 mutations

A
  • Prostate
  • THyroid
  • Kidney
  • Colon
63
Q

What are the characteristics of the cancers seen with BRCA1 mutations

A

Breast cancers are commonly poorly differentiated and triple negative (basal like) and TP53 mutations

“Medullary like:

64
Q

What is the most common subtype of breast cancer in individuals who inherit BRCA2

A

ER+, HER2- (50-65%)

65
Q

What is the rate of responsiveness of chemotherapy to ER and PR tumors

A

Very good, better than just one of the receptors.

66
Q

With regards to Proliferative breast disease with atypia, what are the findings for atypical lobular hyperplasia

A
  • Cells distend into the acini within the lobule

* Does not distend or fill more that 50%, which separates it from carcinoma in situ

67
Q

What is the prognosis of micropapillary carcinomas

A

Poor prognosis

68
Q

Which other cancers are associated with mutations in TP53

A

Sarcomas, leukemias, brain tumors, adrenocortical tumors

69
Q

What are the characteristics of the breast calcifications that are associated with malignancy

A

Small, irregular, numerous and clustered

70
Q

Bloody or serous nipple discharge is most indicative of which condition

A

-Large duct papillomas and cysts

71
Q

With regards to Proliferative breast disease without atypia, what are the findings for epithelial hyperplasia

A

-Increased numbers of luminal and myoepithelial cell types

72
Q

What is the location of metastasis in the case of ER+, HER-, low proliferation

A

Bone

73
Q

What are the findings in Proliferative breast disease without atypia

A
  • Epithelial hyperplasia
  • Sclerosing adenosis
  • Complex sclerosing lesion
  • Papilloma
74
Q

What are the mutations genetically in the BRCA2 mutations

A
  • 1q gain
  • 16q loss

All with downstream PIK3CA mutation activations

75
Q

With regards to Proliferative breast disease without atypia, what are the findings for complex sclerosing lesions

A
  • Components of sclerosing adenosis, papillomas, and epithelial hyperplasia
  • Central Indus of entrapped glands in a hyalinized stroma surrounded by long radiating projections into the stroma
76
Q

Which mutation should be considered in a family with male breast cancer

A

BRCA2

77
Q

What are the risk factors for high likely recurrence of DCIS

A

1) High nuclear grade
2) extent of disease
3) positive surgical margins

78
Q

Which patient population is commonly seen to have lymphocytic mastopathy

A

Women with T1D and/or autoimmune thyritis

79
Q

What condition is commonly seen to have mucin positive signet ring cells

A

LCIS

80
Q

What is the cause of supernumerary nipples/breasts and how do they normally present

A

Milk line remnants and commonly arise as a result of painful premenstrual enlargements

81
Q

Which race has the highes incident of breast cancer in the US

A

Non-Hispanic white

82
Q

What are the characteristics of the acute mastitis when caused by streptococcal

A

Cellulitis

83
Q

IN the case of nonproliferative breast changes, what are the findings regarding the cystic changes

A

Associated with apocrine metaplasia:

-semi-translucent fluid of a blue or brown color (aka blue-dome cysts)

84
Q

What are the general findings/descriptions of nonproliferative breast changes

A

-fibrocystic changes

85
Q

What are the characteristics of the different breast densities and what are their prognosis

A
  • Rounded (benign as in fibroadenomas or cysts)

- Irregular (invasive carcinomas)

86
Q

What is the relation between risk of breast cancer and age of first menstration

A

Younger the first menstration (before age 11) , the increased risk of 20%

87
Q

How is it that MRI are able to pick up breast carcinomas

A

The increased contrast fluid uptake by the cancer cells due to their vascularity and blood flow

88
Q

What are the characteristics of noncomedo DCIS

A

-Lacks high grade nuclei or central necrosis

89
Q

Patients with lobular carcinoma are at a higher risk for which condition

A

Gastric signet ring cell carcinoma

90
Q

What are the three divisions of breast carcinomas

A

1) ER positive, HER-2 negative (50-65%)
2) ER negative, HER-2 negative (10-20%)
3) HER-2 positive (10-20%)

91
Q

What is the dominating feature in the ER+, HER-, low proliferation

A

ER dominated, so very responsive in the case of women with estrogen replacement

92
Q

Most breast carcinomas are of which type

A

Adenocarcinoma that arise in the duct/lobular system

93
Q

What is the prognosis of breast erythema and skin thickening

A

Very bad. As they have distant metastasis

*aka cooper ligaments that mimic the skin of an orange peel

94
Q

Most breast malignancies are of which type

A

Adenocarcinomas

95
Q

Women who receive cyclosporin A following a renal transplant commonly develop which condition

A

Multiple and bilateral fibroadenomas, which will regress following treatment cessation

96
Q

Which condition present morpholigically with unilateral erythematous eruption with a scale crust

A

Paget’s disease, commonly with itching and eczema look alike

97
Q

What are the characteristics of comedo DCIS

A
  • Tumor cells with pleomorphic, high grade nuclei

- Area of Central necrosis

98
Q

What are the state of markers for carcinomas with Paget’s disease when it is a palpable mass

A

ER-, over expression of HER2

99
Q

How was the rate of breast cancers changed recently

A

All have stayed constant, but ER pos,HER-2 neg have increased

100
Q

Which patient population is more likely to develop a squamous metaplasia of lactiferous ducts

A

Smokers (90%), usually due to lack of Vitamin A that alter the differentiation of the ductal epithelium.

101
Q

With regards to Proliferative breast disease without atypia, what are the findings for sclerosing adenosis

A

Increased number of acini that are compressed and distorted in a central position of the lesion (forms a swirling pattern, but is wll circumscribed). May have irregular slitlike fenestrations in the periphery

102
Q

Essentially all well circumscribed tumors are of which markers

A

ER+, HER-

103
Q

Which tumors arise from the intralobular stroma

A
  • Fibroadenomas

- phyllodes Tumor

104
Q

What is the risk of breast cancer if there is the presence of proliferative disease without atypia

A

1.5 to 2 times increased risk

105
Q

IN the case of nonproliferative breast changes, what are the findings regarding the chromosome with flat epithelial atypia

A

16q

106
Q

What patients are HER2+ breast cancers most commonly seen in

A

-Young women and nonwhite women

107
Q

In the case of breast cancers, what are the type of mutations seen

A

Loss of tumor suppressor genes such as BRCA 1 and 2, TP53, CHEK2

108
Q

ER+ and HER- carcinomas have what rate of proliferation

A

Fast

109
Q

With regards to Proliferative breast disease with atypia, what are the mutated chromosomes

A

Loss of 16q

gain of 17p

110
Q

What is the cause of acute bacterial mastitis

A

Occurs in the first month of breastfeeding in which bacterial enters the cracks and fissures in the nipple

111
Q

What is the most common benign tumor of the breast

A

Fibroadenomas

112
Q

Phyllodes tumors are associated with which mutation/changes

A

-gains in 1q

113
Q

What is the only sarcoma that is common in the breast and when are they commonly seen

A

Angiosarcoma, following radiation about 10 years later

114
Q

Calcifications of the breast are assocaited with which prognosis

A

Benign

115
Q

What is the method of spread for LCIS

A

Pagetoid spread, which is the presence of neoplastic cells between the basement membrane and overlying luminal cells

116
Q

What are the bacteria most commonly causing acute bacterial mastitis

A
  • Staph Aureus**

- Streptococci

117
Q

What is the presenting on a a squamous metaplasia of the lactiferous ducts

A

Painful erythematous subareolar mass that appears like a bacterial abscess

118
Q

TP53 or Li Fraumeni syndrome is common to see carcinomas with which markers

A

-ER+, HER2+

119
Q

Which carcinoma is described as soft/rubbery with the consistency and appearance of being pale blue-grey gelatin

A

Mucinous

120
Q

Which patients are most commonly seen to have ER-,HER- tumors

A

Premenopausal women

-African Americans and Hispanic women

121
Q

What is the prognosis of overexpression of HER tumors

A

Not very good

122
Q

What are the factors for DCIS that indicate higher risk for recurrence and progression

A

-Nuclear grade and necrosis

123
Q

Which breast cancer risk increases with age

A

-ER positive risk increased with age

124
Q

What is the relative risk of breast cancer in women with a family member with it

A

15-20% of women

125
Q

Which women tend to have BRCA1 mutations

A

African Americans

126
Q

Which conditions can cause gynocomastia in males

A
  • Cirrhosis of the liver (metabolized estrogen)

- Excess estrogen or testosterone levels dropping

127
Q

What is the association of nonproliferative breast changes with breast cancer

A

No increased risk

128
Q

When are ER-,HER- breast cancers most likely to emerge

A

In between mammograms (due to the high proliferation rate)

129
Q

Which tumor is defined by a grating sound with cut or scraped (like a water chestnut)due to a central pinpoint foci or streaks of chalky-white desmoplastic stroma and occasional foci of calcification

A

Invasive carcinoma

130
Q

HOXB13 are associated with which characteristic in phyllodes tumor

A
  • higher grade

- more aggressive

131
Q

ER+, HER2 -, high proliferation is most associated with which mutation

A

BRCA2

132
Q

Where are the common locations of metastasis for ER-,HER- breast cancers

A

Bone
Brain
Viscera

133
Q

How is LCIS most commonly found

A

Incidental finding as it is not associated with calcification or densities

134
Q

With regards to Proliferative breast disease with atypia, what are the findings atypical lobular hyperplasia with regards to mutations

A

Loss of E caderhin

135
Q

What are the percentages of the location of breast carcinomas

A

Upper outer- 50%
Each other quadrant- 10%
Central region- 20%

136
Q

What is the prognosis of a tumor with exuberant desmoplastic stromal response

A

Not good as likely an invasive carcinoma

137
Q

What is the only breast tumor that is equally likely in males and females

A

-Myofibroblastoma

138
Q

Invasive carcinomas following LCIS are most likely to be of which kind

A

Lobular carcinoma (3x more likely)

139
Q

Which mutation is associated with higher risk of male breast cancer

A

BRCA2

140
Q

What is the risk of invasive carcinomas of the contralateral breast in LCIS

A

High risk, as both have the same risk

141
Q

Which form of discharge is the most concerning

A

Spontaneous and unilateral

142
Q

Lobular carcinoma tend to have which mutation

A

CDH1 for cadherin

143
Q

What grade is a tumor that has Tubular pattern with small round nuclei with low proliferation rate

A

Grade 1

144
Q

ER positive cancers are considered to resemble what

A

Luminal tumors, by resembling normal breast luminal cells

145
Q

Morphology of ecstatic dilated ducts filled with insipiated secretions with chronic inflammation and fibrosis and numerous lipid laden macrophages are indicative of which condition

A

-Duct Ectasia