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Pathology Flashcards

1
Q

Li-Fraumeni Syndrome

A

Autosomal dominant

Consists of germline mutations to p53 tumour suppressor gene

High incidence of malignancies particularly sarcomas and leukaemias

Diagnosed when:

*Individual develops sarcoma under 45 years
*First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age

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2
Q

BRCA 1 and 2

A

Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)

Linked to developing breast cancer (60%) risk.

Associated risk of developing ovarian cancer (55% with BRCA 1 and 25% with BRCA 2).

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3
Q

Lynch Syndrome

A

Autosomal dominant

Develop colonic cancer and endometrial cancer at young age

80% of affected individuals will get colonic and/ or endometrial cancer

High risk individuals may be identified using the Amsterdam criteria

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4
Q

Gardners syndrome

A

Autosomal dominant familial colorectal polyposis

Multiple colonic polyps

Extra colonic diseases include: skull osteoma, thyroid cancer and epidermoid cysts

Desmoid tumours are seen in 15%

Mutation of APC gene located on chromosome 5

Due to colonic polyps most patients will undergo colectomy to reduce risk of colorectal cancer

Now considered a variant of familial adenomatous polyposis coli

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5
Q

What can increase PSA?

A

benign prostatic hyperplasia (BPH)

prostatitis and urinary tract infection (NICE recommend to postpone the PSA test for at least 1 month after treatment)

ejaculation (ideally not in the previous 48 hours)

vigorous exercise (ideally not in the previous 48 hours)

urinary retention

instrumentation of the urinary tract

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6
Q

Oesophageal cancer, type, investigation,

A

Achalasia is a rare condition. However, even once treated there is an increased risk of malignancy. When it does occur it is most likely to be of squamous cell type.

In most cases in the Western world this increase is accounted for by a rise in the number of cases of adenocarcinoma. In the UK adenocarcinomas account for 65% of cases.Barretts oesophagus is a major risk factor for most cases of oesophageal adenocarcinoma.

30 fold increase in cancer risk and if invasive malignancy is diagnosed early then survival may approach 85% at 5 years.

Upper GI endoscopy is the first line test

Contrast swallow may be of benefit in classifying benign motility disorders but has no place in the assessment of tumours

Staging is initially undertaken with CT scanning of the chest, abdomen and pelvis. If overt metastatic disease is identified using this modality then further complex imaging is unnecessary

If CT does not show metastatic disease, then local stage may be more accurately assessed by use of endoscopic ultrasound.

Staging laparoscopy is performed to detect occult peritoneal disease. PET CT is performed in those with negative laparoscopy. Thoracoscopy is not routinely performed.

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7
Q

Surgical management of Oesophageal cancer

A

Operable disease is best managed by surgical resection. The most standard procedure is an Ivor- Lewis type oesophagectomy. An intrathoracic oesophagogastric anastomosis is constructed.

many patients will be treated with adjuvant chemotherapy.

transhiatal resection (for distal lesions)

left thoraco-abdominal resection (difficult access due to thoracic aorta) and a total oesophagectomy (McKeown) with a cervical oesophagogastric anastomosis.

The biggest surgical challenge is that of anastomotic leak, with an intrathoracic anastomosis this will result in mediastinitis. With high mortality. The McKeown technique has an intrinsically lower systemic insult in the event of anastomotic leakage.

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8
Q

Dukes staging

A

Dukes A Tumour confined to the bowel but not extending beyond it, without nodal metastasis (95%)

Dukes B Tumour invading bowel wall, but without nodal metastasis (75%)

Dukes C Lymph node metastases (50%)

Dukes D Distant metastases (6%)(25% if resectable)

(5 year survival rate)

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9
Q

Features suggestive of sarcomatous change in a lipoma

A

Size >5cm
Increasing size
Pain
Deep anatomical location

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10
Q

Pathology of Barrett’s oseophagus

A

characterised by the metaplastic transformation of squamous oesophageal epithelium to columnar gastric type epithelium

endoscopic features of Barretts oesophagus a

with a deep biopsy that demonstrates

goblet cell metaplasia but also oesophageal glands.

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11
Q

Which important structural proteins determine the structural properties of all tissues?

A

Glycine

Elastin

Glycosaminoglycans

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12
Q

Collagen structure

A

Composed of 3 polypeptide strands that are woven into a helix, usually a combination of glycine with either proline or hydroxyproline plus another amino acid

Numerous hydrogen bonds exist within molecule to provide additional strength

Many sub types but commonest sub type is I (90% of bodily collagen), tissues with increased levels of flexibility have increased levels of type III collagen

Vitamin c is important in establishing cross links

Synthesised by fibroblasts

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13
Q

Which subtype of lung cancer is more common?

A

Non small cell lung cancer is the most common variant and accounts for 80% of all lung cancers.

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14
Q

Non small cell lung cancer includes which subtypes?

A

Squamous cell carcinoma (25% cases)

Adenocarcinoma (40% cases)

Large cell carcinoma (10% cases)

Paraneoplastic features and early disease dissemination are less likely than with small cell lung carcinoma. Adenocarcinoma is the most common lung cancer type encountered in never smokers.

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15
Q

Small cell lung carcinoma

A

The neuroendocrine hormones may be released from these cells with a wide range of paraneoplastic associations. These tumours are strongly associated with smoking and will typically arise in the larger airways. They disseminate early in the course of the disease and although they are usually chemosensitive this seldom results in long lasting remissions.

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16
Q

Branchial cyst

A

Six branchial arches separated by branchial clefts

Incomplete obliteration of the branchial apparatus may result in cysts, sinuses or fistulae

75% of branchial cysts originate from the second branchial cleft

Usually located anterior to the sternocleidomastoid near the angle of the mandible

Unless infected the fluid of the cyst has a similar consistency to water and is anechoic on USS

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17
Q

Pernicious anaemia

A

chronic illness caused by impaired absorption of vitamin B-12 because of a lack of intrinsic factor (IF) in gastric secretions. It occurs as a relatively common adult form of anaemia that is associated with gastric atrophy and a loss of IF production and as a rare congenital autosomal recessive form in which IF production is lacking without gastric atrophy.

failure of gastric parietal cells to produce sufficient IF (a gastric protein secreted by parietal cells) to permit the absorption of adequate quantities of dietary vitamin B-12. Other disorders that interfere with the absorption and metabolism of vitamin B-12 can produce cobalamin deficiency, with the development of a macrocytic anaemia and neurologic complications. In many cases the underlying cause is autoimmune destruction of the parietal cell mass of the gastric antrum.

monthly treatment of vitamin B12 injections. Folic acid supplementation may also be required.

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18
Q

Histopathology findings in temporal arteritis biopsy?

A

Vessel wall granulomatous arteritis with mononuclear cell infiltrates and giant cell formation

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19
Q

Risks in GCA/TEMP ART BIOPSY

A

Injury to facial or auriculotemporal nerve

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20
Q

Papillary carcinoma

A

Histologically tumour has papillary projections and pale empty nuclei

Seldom encapsulated

Account for 60% of thyroid cancers

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21
Q

Follicular carcinoma

A

May appear macroscopically encapsulated, microscopically capsular invasion is seen

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22
Q

Anaplastic carcinoma

A

Most common in elderly females

Local invasion is a common feature

Account for 10% of thyroid cancers

Treatment is by resection where possible, palliation may be achieved through isthmusectomy and radiotherapy. Chemotherapy is ineffective.

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23
Q

Medullary carcinoma

A

Tumours of the parafollicular cells (C Cells)

C cells derived from neural crest and not thyroid tissue

Serum calcitonin levels often raised

Familial genetic disease accounts for up to 20% cases

Both lymphatic and haematogenous metastasis are recognised, nodal disease is associated with a very poor prognosis.

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24
Q

Adrenal lesions- Incidental Investigation?

A

Morning and midnight plasma cortisol measurements

Dexamethasone suppression test

24 hour urinary cortisol excretion

24 hour urinary excretion of catecholamines

Serum potassium, aldosterone and renin levels

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25
Q

Adrenal lesions- Incidental
Management

A

Management
The risk of malignancy is related to the size of the lesion and 25% of all masses greater than 4cm will be malignant. Such lesions should usually be excised. Where a lesion is a suspected metastatic deposit a biopsy may be considered.

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26
Q

Hodgkins lymphoma - Presenting features

A

Asymptomatic lympadenopathy

Cough, Pel Ebstein fever, haemoptysis, dyspnoea

B Symptoms - 10% weight loss, fever, night sweats

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27
Q

Hodgkins lymphoma staging and histology

A

All patients are staged with CT scanning of the chest, abdomen and pelvis
The Ann Arbor staging system is commonly used

I Single lymph node region

II Two or more regions on the same side of the diaphragm

III Involvement of lymph node regions on both sides of the diaphragm

IV Involvement of extra nodal sites

Reed Sternberg cells may be identified histologically.

Infection with Ebstein Barr virus is linked to the condition (particularly mixed cellularity lymphoma).

Stage I disease is associated with survival figures of up to 85% at 5 years. Nodular sclerosing has the best prognosis. Lymphocyte depleted Hodgkins lymphoma, advancing age, male sex and stage IV disease are all associated with a worsening of prognosis.

28
Q

Phaeochromocytoma

A

Neuroendocrine tumour of the chromaffin cells of the adrenal medulla. Hypertension and hyperglycaemia are often found.

10% of cases are bilateral. (Most tumours are unilateral (often right sided) and smaller than 10cm.)

10% occur in children.

11% are malignant (higher when tumour is located outside the adrenal).

10% will not be hypertensive.

Familial cases are usually linked to the Multiple endocrine neoplasia syndromes (considered under its own heading).

29
Q

Phaeochromocytoma treatmetnt

A

An irreversible alpha adrenoreceptor blocker should be given, although minority may prefer reversible blockade(1). Labetolol may be co-administered for cardiac chronotropic control. Isolated beta blockade should not be considered as it will lead to unopposed alpha activity.

30
Q

Merkel cell tumours of the skin

A

Rare but aggressive tumour.

Develops from intra epidermal Merkel cells.

Usually presents on elderly, sun damaged skin. The periorbital area is the commonest site.

Histologically these tumours appear within the dermis and subcutis. The lesions consist of sheets and nodules of small hyperchromatic epithelial cells with high rates of mitosis and apoptosis. Lymphovascular invasion is commonly seen.

Pre-existing infection with Merkel Cell Polyomavirus is seen in 80% cases.

31
Q

Treatment &Prognosis of Merkcle cell tumour

A

Treatment
Surgical excision is first line. Margins of 1cm are required. Lesions >10mm in diameter should undergo sentinel lymph node biopsy. Adjuvant radiotherapy is often given to reduce the risk of local recurrence.

Prognosis

With lymph node metastasis 5 year survival is 50% or less.

Small lesions without nodal spread are usually associated with a 5 year survival of 80%.

32
Q

Burns pathology

A

Extensive burns

Haemolysis due to damage of erythrocytes by heat and microangiopathy

Loss of capillary membrane integrity causing plasma leakage into interstitial space

Extravasation of fluids from the burn site causing hypovolaemic shock (up to 48h after injury)- decreased blood volume and increased haematocrit

Protein loss

Secondary infection e.g. Staphylococcus aureus

ARDS

Risk of Curlings ulcer (acute peptic stress ulcers)

Danger of full thickness circumferential burns in an extremity as these may develop compartment syndrome

33
Q

Klippel-Trenaunay syndrome

A

Signs and symptoms
The birth defect is diagnosed by the presence of a combination of these symptoms:

One or more distinctive port-wine stains with sharp borders

Varicose veins

Hypertrophy of bony and soft tissues, that may lead to local gigantism or shrinking.

An improperly developed lymphatic system

In some cases, port-wine stains (capillary port wine type) may be absent. Such cases are very rare and may be classified as ‘atypical Klippel-Trenaunay syndrome’.

KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with venous involvement experience increased pain and complications.

34
Q

Blood test in DIC

A

prolonged clotting times, thrombocytopenia, decreased fibrinogen, increased fibrinogen degradation products

35
Q

Antiphospholipid syndrome

A

Multi organ disease
Pregnancy involvement common
Arterial and venous thromboses
Either Lupus anticoagulant or Anti cardiolipin antibodies
APTT usually prolonged
Antibodies may be elevated following surgery, drugs or malignancy
Need anticoagulation with INR between 3 and 4

36
Q

Gastrointestinal stromal tumour

A

GIST’s are not common tumours (10 per million) and originate primarily from the interstitial pacemaker cells (of Cajal). Up to 70% occur in the stomach, the remainder occurring in the small intestine (20%) and the colon and rectum (5%). Up to 95% are solitary lesions and most are sporadic. The vast majority express CD117 which is a transmembrane tyrosine kinase receptor and in these there is a mutation of the c-KIT gene.

The goal of surgery is resection of the tumour with a 1-2cm margin of normal tissue. As a result extensive resections are not required. Unfortunately there is a high local recurrence rate, the risk of which is related to site, incomplete resections and high mitotic count. Salvage surgery for recurrent disease is associated with a median survival of 15 months.

The prognosis in high risk patients is greatly improved through the use of imatinib, which in the ACOSOG trial (imatinib vs placebo) improved relapse rates from 17% to 2%.
In the UK it is advocated by NICE for use in patients with metastatic disease or locally unresectable disease.

37
Q

Wound healing - 1) Haemostasis

A

Minutes to hours following injury

Vasospasm in adjacent vessels, platelet plug formation and generation of fibrin rich clot.

38
Q

Wound healing 2) Inflammation

A

Typically days 1-5

Neutrophils migrate into wound (function impaired in diabetes).

Growth factors released, including basic fibroblast growth factor and vascular endothelial growth factor.

Fibroblasts replicate within the adjacent matrix and migrate into wound.

Macrophages and fibroblasts couple matrix regeneration and clot substitution.

39
Q

Wound healing 3) Regeneration

A

Typically days 7 to 56

Platelet derived growth factor and transformation growth factors stimulate fibroblasts and epithelial cells.

Fibroblasts produce a collagen network.

Angiogenesis occurs and wound resembles granulation tissue.

40
Q

Wound healing 4) Remodeling

A

From 6 weeks to 1 year

Longest phase of the healing process and may last up to one year (or longer).

During this phase fibroblasts become differentiated (myofibroblasts) and these facilitate wound contraction.

Collagen fibres are remodeled.

Microvessels regress leaving a pale scar.

41
Q

Carcinoid syndrome

A

Carcinoid tumours secrete serotonin

Originate in neuroendocrine cells mainly in the intestine (midgut-distal ileum/appendix)

Clinical features

Onset: insidious over many years

Flushing face

Palpitations

Pulmonary valve stenosis and tricuspid regurgitation causing dyspnoea

Asthma

Severe diarrhoea (secretory, persists despite fasting)

Investigation

5-HIAA in a 24-hour urine collection

Somatostatin receptor scintigraphy

CT scan

Blood testing for chromogranin A

Treatment

Octreotide

Surgical removal

42
Q

Post transplant complications

A

CMV: 4 weeks to 6 months post transplant
EBV: post transplant lymphoproliferative disease. > 6 months post transplant

43
Q

Types of carotid body tumour

A

rare tumours. However, they typically account for around 60% of head and neck paraganglionomas.

Types of carotid body tumour

Sporadic - Accounts for 85% of cases

Familial - Seen in around 10% of cases and usually in younger patients

Hyperplastic - Seen in those at high altitude or in those with COPD

44
Q

A 56 year old man from Ghana has suffered from recurrent attacks of haematuria for many years. He presents with suprapubic discomfort and at cystoscopy is found to have a mass lesion within the bladder. What is the most likely diagnosis?

A

In Ghana, Schistosomiasis is more common than in the UK and may cause recurrent episodes of haematuria. In those affected with the condition who develop a bladder neoplasm, an SCC is the most common type.

45
Q

desmoid tumour

A

s low grade fibrosarcomas or non aggressive fibrous tumours. They commonly present as large infiltrative masses. They may be divided into abdominal, extra abdominal and intra abdominal. All types share the same biological features. Extra abdominal desmoids have an equal sex distribution and primarily arise in the musculature of the shoulder, chest wall, back and thigh. Abdominal desmoids usually arise in the musculoaponeurotic structures of the abdominal wall. Intra abdominal desmoids tend to occur in the mesentery or pelvic side walls and occur most frequently in patients with familial adenomatous polyposis coli syndrome.

46
Q

Koebner phenomenon

A

The Koebner phenomenon describes skin lesions which appear at the site of injury. It is seen in:

Psoriasis

Vitiligo

Warts

Lichen planus

Lichen sclerosus

Molluscum contagiosum

47
Q

Popcorn cells

A

small cells with hyper-lobulated nucleus and small nucleoli. They are the lymphohistiocytic (L-H) variant of Reed Sternberg cells and are associated with nodular lymphocyte predominant Hodgkin lymphoma

48
Q

Leriche syndrome

A

atherosclerotic occlusive disease involving the abdominal aorta and/or both of the iliac arteries

  1. Claudication of the buttocks and thighs
  2. Atrophy of the musculature of the legs
  3. Impotence (due to paralysis of the L1 nerve)

Diagnostic work up will include angiography, where feasible, iliac occlusions are usually treated with endovascular angioplasty and stent insertion.

Management involves correcting underlying risk factors such as hypercholesterolaemia and stopping smoking

49
Q

Papillary carcinoma histology

A

Histologically, they may demonstrate psammoma bodies (areas of calcification) and so called ‘orphan Annie’ nuclei

Psammoma bodies consist of clusters of microcalcification.

50
Q

Hydatid cysts causative orgnaism?

A

tapeworm parasite Echinococcus granulosus.

51
Q

Multiple Endocrine Neoplasia Type 1

A

Autosomal Dominant

3Ps

Parathyroid (95%): Parathyroid adenoma
Pituitary (70%): Prolactinoma/ACTH/Growth Hormone secreting adenoma
Pancreas (50%): Islet cell tumours/Zollinger Ellison syndrome

also: Adrenal (adenoma) and thyroid (adenoma)

52
Q

What is the gene involved in MEN type 1 and what is a common presentation?

A

MENIN Gene - Chr 11

Hypercalcaemia

53
Q

MEN type IIa

RET ONCOGENE CHR10

A

Phaeochromocytoma
Medullary thyroid cancer (70%)
Hyperparathyroidism (60%)

54
Q

MEN Type 2

A

Same as MEN IIa with addition of:
Marfanoid body habitus
Mucosal neuromas

55
Q

What cells make PTH

A

Chief cells in 4 glands parathyroid

56
Q

Where does PTH work to reabsorb calcium in the kidney?

A

works in the kidney in the distal convoluted tubule to reabsorb calcium.

When PTH binds to the receptor, it will then increase the amount of cyclic AMP within your nephron.

57
Q

What cell is involved in Foreign body reaction

A

Giant cells

58
Q

What does Entameoba Histolica cause

A

Accounts for 10% of liver abscesses, world wide - commonest cause of liver absess is amoebic

59
Q

Commonest cause of liver abscess in developed countries

A

Coliforms eg) E coli, Klebsiella

Usually due to cholangitis w/bilary stones following diverticulitis

60
Q

Physiological and histological features of ARDS ?

A

Increased capillary permeability

Interstitial and alveolear oedema

Capillary permeability

Interstitial and alveolar oedema

Later - diffuse late interstitial and alveolar fibrosis

61
Q

What are Kupffer cells?

A

Specialised phagocytic cells that line the hepatic sinusoids

62
Q

What immune mechanism is involved in Graft vs Host disease?

A
  • Immunocompetent stem cells are transplanted to an individual
    eg) bone marrow attacks the recipient
63
Q

How does LMWH affect coag

A
64
Q

Classic radiological finding most commonly seen in Ewing’s sarcoma

A

Malignant cround cell tumour of the long bones (onion sign)

Poor porgnosis with mets

80% mortality in 5 ytears

65
Q

Classical radiological finding of common primary bone malignancy

A

Signs of bone destruction and new bone formation - sunray sign

66
Q

What is Functional residual capacity and what conditions affect it?

A

FRC is volume of bgas remaining in the lung after a normal expiration

ERV+RV

Occurs in reduced lung compliance -> intersitial fibrosis

67
Q
A

mrcs (14 decks)

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