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Pathology - Cancer mutations > Cancer and Autoimmune > Flashcards

Cancer and Autoimmune Flashcards

1
Q

t(9;22)

A

Philedelphia chromosome, CML OR Ph+ B-ALL

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2
Q

Jak2 kinase

A

Chronic myeloproliferatie disorders other than CML

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3
Q

BCR-ABL

A

Same as Philedelphia?

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4
Q

t(11;14)

A

Mantle cell lymphoma, translocation of cyclin D1 and heavy chain Ig allowing proliferation of cell from G1 to S phase

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5
Q

t(14;18)

A

Follicular lymphoma, translocates heavy-chain Ig and BCL-2 resulting in survival of somatic hyperexpansion cells which should not survive

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6
Q

tdt+ cells?

A

DNA polymerase in Lymphoblasts (proliferation in ALL)

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7
Q

Myeloperoxidase? (MPO)

A

Myeloblasts (proliferation in AML)

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8
Q

Aur Rod?

A

MPO accumulation - AML

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9
Q

Down syndrome cancer after age of 5?

A

ALL

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10
Q

CD10, 19 and 20?

A

B-cells -> abnormal proliferation means B-ALL

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11
Q

t(12;21)

A

B-ALL - think reflection across B and reflextion across ;, good prognosis, usually in kids

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12
Q

Ph+ B-ALL marker?

A

t(9;22) - Philedelphia chromosome - poor prognosis

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13
Q

t(15;17)

A

Acute promyelocytic leukemia - translocation of retinoic acid receptor which blocks maturation - treatment with ATRA which binds mutated receptor

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14
Q

Band cells

A

Immature cells with fewer nuclear segments - means shortened maturation / infection

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15
Q

CD5+ and CD 20+?

A

CLL

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16
Q

Smudge cell?

A

CLL

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17
Q

Tartrate resistant acid phosphatase?

A

Hairy cell leukemia - treated with 2-CDA - which blocks adenosine deaminase causing toxic adenosine levels in cell

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18
Q

HTLV-1 -> Japan and Carribean

A

Adult T-Cell leukemia/lymphoma

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19
Q

Cerebreform nuclei

A

Sezary cells in mycosis fungoides

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20
Q

Neoplastic cells in epidermis

A

Pautrier microabscesses - Mycosis fungoides

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21
Q

IL-6?

A

Multiple myeloma

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22
Q

Peak age for multiple myeloma?

A

50-60

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23
Q

Solitary plasmitic lesion?

A

Osseous - will be multiple myeloma, extraosseous - can be resected!

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24
Q

Leukemia not caused by radiation?

A

CLL (according to kreisle)

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25
Q

Precursors

Lmyphoid
CFU-G/M
CFU-E

A

Lymphoid - CLL, Hairy cell, mutliple myeloma
CFU-G - CML, myelodysplastic syndrome, melofibrosis
CFU-E - PCV, Essential thrombocytosis

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26
Q

Chronic leukemia vs acute leukemia onset.

CLL
CML
AML
ALL

A

Chronic leukemia = disease of adults
Acute lekumia = disease of the young

CLL>50
CML40-50
AML 15-30
ALL 4

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27
Q

Progressions

CML
MDS

A

CML -> AL

MDS ->AML

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28
Q

Marker for ALL?

A

Acid shiff no peroxidase, yes for terminal deoxyransferase (TdT)

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29
Q

Prominent thymic mass?

A

T-cell ALL

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30
Q

MPO on wright Giemsa stain?

A

AML

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31
Q

Leukemia with hypergranulation and RAR-Alpha-PML mutation

A

M3 AML, treat with retinoic acid

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32
Q

CD5+ with Cd19 and CD20 without CD10 or TdT

A

CLL

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33
Q

Trisomy 12

A

CLL associated

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34
Q

Tartrate resistant acid phosphatase

A

Hairy cell leukemia

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35
Q

t(8;21)

A

AML

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36
Q

Top 5 hematological cancers?

A

Non=hodkins, MM, AML, CLL,Hodgkins

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37
Q

Hodgkins or non-hodgkins older?

A

Non hodgkins - hodgkins

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38
Q

Bad differetnaiation for Non-hodgkin’s?

A

Large, diffuse, high grade

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39
Q

Prominent white pulp in spleen?

A

Follicular lymphoma

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40
Q

Leukemic version of small cell lymphoma?

A

CLL

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41
Q

EBV infection past?

A

Burkitt’s lymphoma, mandible and abdomen

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42
Q

Sezary Syndrome

A

Tumors of CD4+ T cells

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43
Q

CD38

A

MM

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44
Q

CD15, 30

A

Hodgkins

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45
Q

t(8;14), t(2;8), T(8;22)

A

Burkitt’s, cmyc

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46
Q

t(14;19)

A

Bcl-3

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47
Q

Form of cancer more common in women?

A

Nodular Sclerosis Hodgkin’s disease

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48
Q

ALL best to worst translocation with random order in between

A

Hyperploidy –> t)12;21,), (8;14) burkitt’s ->t(9;22) worst

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49
Q

PIG-A gene

A

PNH, lack of CD55, CD59

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50
Q

Which AML cannot be cured by chemo?

A

MDS -> AML

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51
Q

AML best to worst

A

t(15;17), t(8;21), inv(16) best

(9;22), MDS history, Monosomies worst

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52
Q

Two divisions of lung cancer

A

Small cell and non-small cell

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53
Q

Small cell S pneumnic

A

Small smokers central that causes syndromes (like SiADH, ACTH

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54
Q

Small cell histology and population

A

Poorly differentiated cells from neuroendocrine in male (usually) smokers

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55
Q

Why differentiate small cell?

A

Treat with chemotherapy not surgical resection

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56
Q

Squamous cell carcinoma histology and paraneoplastic syndrome

A

Intracellular bridges and keratin pearls - PTHrP

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57
Q

Most common tumor in male smokers

A

Squamous cell carcionma

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58
Q

Most common tumor in nonsmokers and female smokers

A

Adenocarcinoma

59
Q

Difference histologically between adenocarcinoma and Large cell?

A

No glands, mucus, keratin pearls, bridges, etc. Located peripherally (pleural involvement)

60
Q

What arises from Clara cells?

A

Bronchiolocarcinoma - looks like pneumonia - excellent prognosis

61
Q

What is carcinoid made of and what does it stain positive?

A

Neuroendocrine with chromogranin positive

62
Q

Difference between small cell and carcinoid

A

Poorly differentiated vs well differetiated

63
Q

Classic appearance of carcinoid tumor

A

Nests of cells forming a polp-like mass in the bronchus

64
Q

Most common metastasis of lung?

A

Breast and colon carcinoma

65
Q

More common lung cancer - primary of secondary?

A

Secondary (metastasis)

66
Q

Where does the lung like to metastasize cancer to?

A

Adrenal glands

67
Q

Name of tumor in apex of lung? Most common cause

A

Pancoast tumor - horner syndrome, Squamous cell carcinoma

68
Q

Central lung mass with paraneoplastic syndrome?

A

Small cell carcinoma

69
Q

Central hilar mass/cavitation?

A

Squamous cell carcinoma

70
Q

Peripheral neoplasm mimicking pneumoniae?

A

Bronchioalveolar adenocarcinoma

71
Q

Genetic factors for small cell lung?

A

c-myc

72
Q

Genetic factors for adenocarcinoma in lung?

A

K-ras

73
Q

Another name for small cell?

A

Oat cell - resemble lymphocytes but twice the size

74
Q

Symptoms of carcinoid syndrome

A

Diarrhea, flushing, cyanosis

75
Q

DDX for bell’s palsy

A

Damage to peripheral VII , HIV, sarcoidosis, Lyme, pancoast tumor

76
Q

Where does each 1/3 of the esophagous metastasize?

A

Upper 1/3 - cervical nodes
Middle 1/3 - mediastinal or tracheobronchial nodes
Lower 1/3 - celiab and gastric nodes

77
Q

DIfferentiating gastric ulcers and gastric carcinoma?

A

Heaped up borders, irregular margins

78
Q

What is linitis plastica?

A

Thickening of stomach wall in response to diffuse type adenocarcinoma characterized by signet rings and desmoplasia - not associated with H. pylori

79
Q

Sites of metastasis of gastric carcinoma

A

Supraclavicular nodes, liver, periumbilical region, bilateral ovaries

80
Q

If a carcinoid tumor is secreting serotonin in the bowel, why do you not see carcinoid syndrome?

A

The liver uses MAO to metabolise serotonin to 5-HIAA

81
Q

Why is left sided carcoinoid heart disease not seen?

A

MAO in the lung

82
Q

What are carcinoid syndrome symptoms

A

Bronchospasm, diarhea, flushing skin

83
Q

What makes senile cardiac amyloidosis different from familial amyloid cardiomyopathy?

A

FAC has mutated transthyretin and thus has more chance of being symptomatic, senile lower chancer with normal transthyretin

84
Q

What protein accumulates in dialysis patients and what does it do?

A

B2 microglobulin in joints, support molecule for MHCI

85
Q

Disorders of amyloidosis systemicand non-systemic

A

Systemic - primary (AL), secondary (AA) - Familial mediterranean fever - nephrotic syndrome, restrictive cardiomyopathy, tongue enlargement, malabsroption, hepatosplenomegaly - thickens everything

Localized - senile cardiac, familial amyloid, non-insulin-dependent DMII, Alzheimers, dialysis, medullary carcinoma ofthyroid

86
Q

What is the path of leukocyte adhesion deficiency?

A

Defect in CD18, integrin malfunction, neutrophils can’t attach - delayed umbillical detachment (due to lack of necrosis/inflammation), increased neutrophils circulating, reccurrent bacterial infections - non pus infections

87
Q

Three basic phases of inflammation

A

Fluid -> neutrophils -> macrophages

88
Q

Describe the process by which a neutrophil reaches a tissues

A

Margination due to vessel dilation, rolling due to P and E selectin binding to sialyl lewis X, adhesion between ICAM/VCAM and integrins, transmigration and chemotaxis via IL-8, C5a, LTB4, Phagocytosis

89
Q

What is chediak higashi

A

“Chedi higa, chedi higa” - like a train - phagosome does not bind with lysosome

Protein trafficking defect, autosomal recessive, can’t transport protein within cell - neutropenia, giant granules on golgi, defective hemostasis, albinism, peripheral neuropathy

90
Q

What disease results and in inability to create O2*

A

NADPH oxidase deficiency - chronic grnulomatous disease - can be infected by catalase + organisms as cannot take H2O2 from bacteria - S. aureus, Psuedomonas cepacia ***, serratia marescens, norcardia, and aspergillus, test with nitroblue tetra -> no blue disease is present

91
Q

What does MPO deficiency result in?

A

Lack of conversion of H2O2 -> HOCl* -> practically not much other than candida

92
Q

What method do macrophages use for phagocytosis

A

Non-oxygen destruction pathway

93
Q

What can macrophages do when they arrive at inflammation

A

Chronic inflammation - MHCII
Acute inflammation - IL-8 -> attracts neutrophils
Resolution -> IL-10, TGF-B

94
Q

What is Hagemann Factor XII role in inflammation?

A

Similar to histamine and bradykinin, with addition of coagulation and fibrinolytic system activation

95
Q

What role does TNF-a and IL-1 have in margination?

A

Upregulates E selectins and upregulate ICAM and VCAM

96
Q

What upregulates integrins on neutrophils?

A

C5a and LTB4

97
Q

Where are half of the neutrophils at a time of noninflammation state?

A

The lungs

98
Q

CD3?

A

TCR transduction

99
Q

Two forms of B cell activation

A

Bind to IgM -> produce more IgM

Phagocytose and present to Th cell -> class switching, hypermutation under influence of IL-4, IL-5

100
Q

CD4+ cells second signal

A

B7 binding to CD28 on T cells

101
Q

CD8+ cell second signal

A

IL-2 secreted by CD4+ T cells

102
Q

Digeorge synrome microdeletion

A

22q11

103
Q

Most common SCID

A

ADA deficiency - causes buildup of deoxyadenosine which is toxic to lymphocytes

104
Q

What do you get when you don’t have antibodies?

A

Bacterial, enterovirus, and giardia infections -don’t give live polio vaccine! Can be caused by X- linked agammaglobulinemia or by common variable immunodeficiency - separated by age

105
Q

What is the mutation cause of hyper-IgM syndrome?

A

CD40 L on T cells mutate so cannot induce isotype switching

106
Q

What disease are you at increased risk for with C5-C9 deficiency?

A

Neisseria meningitidis

107
Q

Anti-DNA or Anti-Sm

A

Lupus

108
Q

Antiphospholipid antibody

A

Hypercoaguable lupus, or more frequently, Antiphospholipid antibody syndrome primary

109
Q

Antihistone antibody

A

Drug induced lupus

110
Q

Anti-SSA, SSB, RF, ANA

A

Sjogren’s

111
Q

What is anti-SSA/B directed gainst?

A

Anti-ribonucleoprotein

112
Q

What does lip biopsy prove/exclude?

A

Lymphocytic sialadenitis proven, excludes amyloidosis, sarcoidosis

113
Q

Anti DNA TopoI (Scl-70)

A

Schleroderma

114
Q

Anti-U1 ribonucleoprotein

A

Mixed connective tissue disease

115
Q

CD34?

A

Hematopoetic cells

116
Q

What does collegenase do and what is its cofactor?

A

Removes type III collagen and needs zinc

117
Q

What does Fibroblast growth factor do?

A

Angiogenesis, like VEGF

118
Q

What does vit C do? Similar deficiencies?

A

Hydroxylates lysine to strengthen collagen for cross-linking. Copper, zinc (for collegenase)

119
Q

Aflatoxins source and complication

A

Aspergillus in rice and grains -> hepatocellular carcinoma

120
Q

Arsenic cancers?

A

SCC of skin, lung cancer, angiosarcoma, comes from cigarrettes

121
Q

Naphthylamine

A

Urothelial carcinoma of the bladder, comes from smoke

122
Q

PVC pipe maker exposure and cancer?

A

Vinyl chloride, angiosarcoma

123
Q

EBV associated cnacers?

A

Nasopharyngeal carcinoma - Chinese and African male neck mass

Burkitt’s lymphoma

CNS lymphoma in AIDS

124
Q

PDGFB overexpression?

A

Astrocytoma

125
Q

Examples of growth factor receptors?

A

ERBB2, RET

126
Q

RET association

A

MEN2A, MEN2B

127
Q

Ras gene oncogene type?

A

Signal tranducer - oint mutation

128
Q

ABL assocation

A

CML and some AML (9;22)

129
Q

C-myc, n-myc, and l-myc association? c-myc translocation?

A

Brukitts, neuroblastoma, lung small cell carcinoma. (8;14)

130
Q

(11;14) translocation?

A

CCND1 (cyclin D1) with IgH translocation, mantle cell lymphoma

131
Q

p53 and Rb cell cycle regulator

A

G1 -> S phase

132
Q

Germline p53 syndrome

A

Li-Fraumeni syndrome

133
Q

Mechanism for interference of Rb

A

Constant phosphorylation -> constituitvelly free E2F

134
Q

Tumor with keratin

A

Epithelium

135
Q

Tumor with vimentin

A

Mesenchyme

136
Q

Tumor with desmin

A

Muscle

137
Q

TUmor with GFAP

A

Neuroglia

138
Q

Tumor with neurofilament

A

Neuron

139
Q

S100 markers

A

Melanoma, schwannoma,langerhans cell histiocytosis

140
Q

Lytic bone lesion, hypercalcemia, and rash?

A

Adult T- cell lymphoma

141
Q

Aggregates of neoplastic T-cells in epidermis

A

Pautrier microabscesses - Mycosis fungoides, causes Sezary syndrome when spreading to blood

142
Q

Mutation in HNPCC

A

Microsatellite instability affecting DNA repair enzymes - Colorectal, ovarian, and endometrial carcinoma

143
Q

Chronic cholecystitis in an elderly woman?

A

Gallbladder cancer

144
Q

AFP in adult

A

Hepatocellular carcinoma

Pathology - Cancer mutations (2 decks)

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