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Year 2 EMS CS > Screening & cancers 2 > Flashcards

Screening & cancers 2 Flashcards

1
Q

What are the 2 types of haematological malignancy?

A
  • Leukaemias

- Lymphomas

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2
Q

What is leukaemia?

A

Tumours of the blood and haemopoietic lineages.

-myeloid/lymphoid

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3
Q

What is lymphoma?

A

Tumours of lymphocytes and the immune system.

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4
Q

How are molecular diagnostics used in haematological malignancies?

A
  • Diagnosis
  • Prognosis
  • Treatment selection
  • Disease monitoring
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5
Q

What techniques are used to define translocations in haematological malignancies? (2)

A
  • PCR

- FISH

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6
Q

What type of translocation is normally seen in myeloid leukaemias?

A

Fusion gene translocation.

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7
Q

What technique is normally used for detecting myeloid leukaemias?

A

PCR.

  • very sensitive and specific, small size range
  • gene level
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8
Q

What is characteristic of the DNA in myeloid leukaemias?

A

Predictable break point/fusion.

-mRNA processed to remove introns

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9
Q

What type of translocation is normally seen in lymphomas?

A

Promoter/enhancer substitution.

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10
Q

What technique is normally used for detecting lymphomas?

A

FISH.

  • very specific, large sizes
  • chromosomal level
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11
Q

What is characteristic of the DNA in lymphomas?

A

Unpredictable break point/fusion.

-no abnormal mRNA

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12
Q

How common is chronic myeloid leukaemia?

A

Rare (1/100,000).

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13
Q

What are the main symptoms of chronic myeloid leukaemia?

A
  • Abdominal pain
  • Fatigue
  • Gout
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14
Q

What causes abdominal pain with chronic myeloid leukaemia?

A

Splenomegaly/splenic infarction.

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15
Q

What causes fatigue with chronic myeloid leukaemia?

A

Anaemia.

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16
Q

What causes gout with chronic myeloid leukaemia?

A

Hyperuricaemia.

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17
Q

What does a FBC show if a patient has chronic myeloid leukaemia?

A
  • Leucocytosis

- Anaemia

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18
Q

What is a common mutation in chronic myeloid leukaemia?

A

t(9,22)
» BCR-ABL fusion gene
» active tyrosine kinase

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19
Q

How is Gleevec (imatinic mesylate) used to treat chronic myeloid leukaemia?

A

Blocks the active site of BCR-ABL tyrosine kinase.

-competitive inhibitor

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20
Q

Which is more sensitive; PCR or cytogenetics?

A

PCR.

-can identify relapse early

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21
Q

What happens when someone is suffering from chronic myelogenous leukemia?

A

The bone marrow produces too many WBCs.

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22
Q

What common mutations are used to detect chronic myeloproliferative leukemia? (2)

A
  • JAK2

- CMPD

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23
Q

Who is B-cell chronic lymphocytic leukaemia most common in?

A

Elderly males.

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24
Q

What are the common symptoms of B-cell chronic lymphocytic leukaemia?

A
  • Asymptomatic
  • Fatigue
  • Autoimmune anaemia
  • Splenomegaly
  • Lymphadenopathy
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25
Q

What does a FBC show if someone is suffering from B-cell chronic lymphocytic leukaemia?

A

Lymphcytosis.

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26
Q

What is a common deletion for B-cell chronic lymphocytic leukaemia?

A

11q/17p deletion.

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27
Q

What type of mutation acts on Ig genes in B cells in B-cell chronic lymphocytic leukaemia?

A

Somatic hypermutation.

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28
Q

How are Ig genes sequenced?

A

Extract DNA
»PCR Ig genes
»compare to reference

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29
Q

How is FISH used to determine the prognosis of B-cell chronic lymphocytic leukaemia?

A

Denature and stain DNA
» count spots in nuclei.

2 per nucleus = amplified

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30
Q

What is the treatment process of B-cell chronic lymphocytic leukaemia if there is a mutated Ig but no deletions?

A

Monitoring and minimally toxic therapy.

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31
Q

What are the main stages in the B cell life cycle?

A

Progenitor B cell (generate functional antigen receptor)
» Mature B cell (hypermutation, class-switching)
» Plasma cell (proliferation)

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32
Q

What do overlapping signals on FISH suggest?

A

Fusion.

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33
Q

What do separated signals on FISH suggest?

A

ALK rearrangement.

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34
Q

What are biopsies fixed in and embedded in?

A

Fixed in formalin then embedded in paraffin.

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35
Q

What are biopsies stained with?

A

Haematoxylin and eosin.

H&E

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36
Q

What germline mutations are seen in hereditary nonpolyposis colorectal cancer (HNPCC)?

A

Mismatch repair proteins.

  • function as dimers
  • leads to microsatellite instability
37
Q

What are the main mutation in colorectal cancer? (2)

A
  • BRAF mutation (5-15%)

- KRAS mutation (30-45%)

38
Q

Which type of mutation is more common in colorectal cancer; BRAF or KRAS?

A

KRAS.

39
Q

What is the prognosis with a BRAF mutation?

A

Poor prognosis.

40
Q

What does a KRAS mutation in colorectal cancer indicate?

A

Predicts a response to anti-EGFR therapies.

41
Q

What is significant of colorectal cancers with mutations at codons 12, 13, 61, 117 and 146?

A

Resistant to anti-EGFR.

42
Q

What is another name for hereditary nonpolyposis colorectal cancer?

A

Lynch syndrome.

43
Q

What are microsatellites?

A

Non-encoding repeat regions of DNA.

44
Q

What type of mutation is uncommon in somatic cancers?

A

A point mutation in both copies of a tumour suppressor gene.

45
Q

What is the 2nd mutation in inherited cancers normally?

A
  • Chromosomal deletions

- Promoter hypermethylation

46
Q

What is microsatellite instability (MSI)?

A

A condition of genetic hypermutability that results from impaired DNA mismatch repair (MMR).

47
Q

What proportion of colorectal cancers are microsatellite-instability high?

A

15%.

-better prognosis

48
Q

What are the majority of colorectal cancers due to?

A

Epigenetic silencing of MLH1.

49
Q

What is another name for Lynch syndrome?

A

Hereditary non-polyposis colorectal cancer (HNPCC).

50
Q

What type of inheritance does Lynch syndrome have?

A

Autosomal dominant.

51
Q

What does lynch syndrome predispose?

A

Increased risk of colon cancer.

-and ovarian/stomach/etc

52
Q

What are common symptoms/signs of colorectal cancer? (4)

A
  • Changed bowel habits
  • Rectal bleeding
  • Weight loss
  • Abdominal pain
53
Q

What are the red flag symptoms of colorectal cancer? (2)

A
  • Rectal bleeding

- Weight loss

54
Q

What are the risk factors of colorectal cancer?

A
  • Male
  • Age
  • Obesity
  • Smoking
  • Red meat
  • Polyps
  • IBD
55
Q

How can you reduce the risk of colorectal cancer? (3)

A
  • Eat fruit/vegetables
  • Increase fibre intake
  • Aspirin
56
Q

What proportion of colorectal cancer is sporadic?

A

90-95%.

-mainly spontaneous condition

57
Q

What proportion of colorectal cancer is hereditary?

A

5-10%.

58
Q

What are the main causes of hereditary colorectal cancer? (2)

A
  • Familial Adenomatous Polyposis (FAP)

- HNPCC

59
Q

What sort of inheritance does Familial Adenomatous Polyposis (FAP) have?

A

Autosomal dominant inheritance.

60
Q

What gene causes to Familial Adenomatous Polyposis?

A

Adenomatous Polyposis Coli (APC) gene.

61
Q

How many polyps do people with Familial Adenomatous Polyposis have?

A

100+.

62
Q

At what age do people with Familial Adenomatous Polyposis (FAP) develop cancer?

A
  • Tumours develop in ~2nd decade.

- Most develop carcinomas by 40.

63
Q

What is the Vogelstein sequence?

A

The adenoma-carcinoma sequence of mutations in oncogenes and tumour suppressor genes that lead to colorectal cancer.
-in 85% of colorectal cancers

64
Q

What is the general Vogelstein sequence?

A 
Normal epithelium
>> hyperproliferative epithelium
>> early adenoma
>> intermediate adenoma
>> late adenoma
>> carcinoma
>> metastasis
65
Q

What mutation causes a hyperproliferative epithelium in the development of colorectal cancer?

A

5q mutation.

66
Q

What causes early adenoma in the development of colorectal cancer?

A

DNA hypomethylation.

67
Q

What mutation causes intermediate adenoma in the development of colorectal cancer?

A

12p mutation.

-KRAS

68
Q

What mutation causes late adenoma in the development of colorectal cancer?

A

18q loss.

69
Q

What mutation causes carcinoma in the development of colorectal cancer?

A

17p loss, p53.

70
Q

How does microsatellite instability pathway lead to HNPCC?

A

Mutations in one of six mismatch repair genes.

71
Q

What are features of tumours that develop from HNPCC?

A
  • Mucinous / poorly differentiated
  • Prominent lymphocytic response
  • Right-sided
72
Q

What is the treatment of polyps?

A
  • Polypectomy (endoscopic mucosal resection)

- Repeat colonoscopy

73
Q

How frequently do new polyps develop after polypectomy?

A

30% within 26 months.

74
Q

What is a polyp?

A

A tissue mass that protrudes into the bowel lumen.

75
Q

Are polyps always neooplastic?

A

No.

-can be inflammatory, hyperplastic, etc

76
Q

What is an adenoma?

A

Benign neoplasm of glandular epithelium.

77
Q

How are colonic adenomas classified?

A
  • Architecture (tubular, villous, tubulovillous)

- Degree of dysplasia (low/high grade)

78
Q

Why are polyps clinically significant?

A

Precursors to colorectal cancer.

-majority evolve through polyps

79
Q

What factors does the risk of colorectal cancer from polyps depend on? (3)

A
  • Size (>1cm = high risk)
  • Histological architecture (villous adenoma = high risk)
  • Severity of dysplasia
80
Q

Who is screened for bowel cancer?

A

60-69 year olds.

-faecal occult blood test

81
Q

Where are the majority of colorectal cancers located?

A

Sigmoid colon (20%)
Rectum (27%)
Caecum (14%)

82
Q

What are the main systems of staging colorectal cancer? (2)

A
  • Tumour, Node, Metastasis (TNM)

- Dukes staging (A, B, C, D)

83
Q

Which stage of Dukes has the best prognosis?

A

A has best prognosis, D has worst prognosis.

84
Q

Who is treated for colorectal cancer?

A
  • High risk stage II

- Stage III

85
Q

What are metastases?

A

2* tumours distant to the site of origin.

86
Q

What routes do tumours metastasise by? (3)

A
  • Haematogenous (blood)
  • Lymphatics
  • Transcoelomic (pleural, pericardial, peritoneal)
87
Q

Where do colorectal cancer tumours metastasise to? (3)

A
  • Lymph nodes
  • Liver
  • Lungs
88
Q

What proportion of colorectal cancer patients die?

A

~50%.

Year 2 EMS CS (4 decks)

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