Answers

Case 1

Image 1 (a):

Large mass arising from

left hilum with left upper

lobe collapse

Bronchogenic carcinoma –

smoking is a risk factor

Case 1

Image 1 (b):

Leukoerythroblastic blood film

Features: Tear drop cells, immature white cells

(myelocytes), nucleated red cells

Indicates marrow infiltration: fibrosis,

metastatic cancer

Case 1 Questions

1. Probable diagnosis?

Bronchial carcinoma in left upper lobe

2. Two abnormalities of flow-loop curve

Severely reduced expiratory flow – consistent with COPD

Reduced inspiratory flow limb – upper airway disease -

?laryngeal nerve palsy from mets

3. Five possible reasons for his confusion

Hypercalcemia, cerebral mets, LRTI, dehydration,

hypoxia

4. Likely reasons for polyuria and polydipsia

Hypercalcemia, cranial diabetes insipidus

Case 2 Answers

Hypercalcaemia, hypophosphatemia -> hyperparathyroidism

HTN, palpitations, tachycardia, elevated haemoglobin level –>

phaeochromocytoma

Irregular neck swelling, euthyroid –> thyroid swelling, likely

medullary cell carcinoma (C-cells) in context of MEN 2

Case 2 Answers MEN 2:

Tumours of thyroid C-cells + parathyroid + adrenal medulla

Rare <20 years, more common as older, 1/3 in >70 years

Mutation: RET proto-oncogene on chromosome 10. Encodes a transmembrane glycoprotein receptor tyrosine kinase.

80% of MEN 2 have medullary carcinoma but only 10-20% of medullary carcinoma is part of MEN 2.

50% have phaechromocytoma. Bilateral, may be asymptomatic -> annual urinary catecholamine screening.

Hyperparathyroidism 5-10% only

Surgical management -> monitor calcitonin levels for response

Genetic screening in families with known disease:

positive -> prophylactic thyroidectomy and annual PTH, catecholamine levels

Negative -> annual calcitonin, FNA of goitre if present

Case 2 Answers

1. Cause of epigastric pain?

Hypercalcaemia

2. Two explanations for diarrhoea

Phaeochromocytoma

Increased calcitonin level – from medullary cell carcinoma

3. Most likely cause of hypertension?

Phaeochromocytoma

4. Cause of haemoglobin level

Secondary polycythaemia from phaeochromocytoma

5. Complete diagnosis

MEN 2

6. Two tests to investigate thyroid swelling.

FNA & serum calcitonin - increased

Case 3 –part 1 answers

1. What is the diagnosis?

Hyperparathyroidism

2. What surgical procedure did her father undergo?

Parathyroidectomy

Case 3 –part 2 answers

1. What is the cause of the abdominal pain?

Peptic ulcers secondary to gastrinoma

2. What investigation to confirm the diagnosis?

Serum gastrin measurement after giving IV secretin or pentagastrin.

Normal response: Serum gastrin decreases (secretin is suppressant). Reduced

gastric acid secretion with pentagastrin.

Above does NOT happen with a gastrinoma.

3. Explain findings of visual field exam and Skull Xray.

Visual fields: Bitemporal hemianopia

Skull XR: Enlarged pituary fossa, double floor of sella turcica, erosion of posterior

clinoid fossa -> pituary tumour

4. Cause of headache?

Raised ICP secondary to prolactinoma

Case 3 –part 2 answers

5. What single diagnosis accounts for all the findings?

MEN 1

Prolactinoma is the most common tumour associated with MEN 1

Prolactinoma in females: amenorrhea, galactorrheoa, hirsuitism,

infertility

Prolactinoma in males: Infertility, impotence, oligospermia, galactorrhea

Does NOT cause gynaecomastia.

PRL level >3000mu/L – highly suggestive of prolactinoma

6. Should anyone else be investigated?

MEN 1 is autosomal dominant. Children should be screened.

Case 4 - Answers

1. List 2 tests that will enable a rapid diagnosis

Serum calcium - elevated

Serum parathyroid hormone levels - elevated

2. What is the definitive treatment

Parathyroidectomy – small amount of tissue planted into forearm

3. How would you manage the patient post definitive treatment?

Vitamin D supplements for ongoing hypocalcaemia which can persist for several months

Case 4 – Answers Features of hyperparathyroidism

Corneal calcification – usually seen

at 3 & 9 o’clock

X-ray hand anteroposterior

view (July 2012) showing

marked sub periosteal

resorption with frayed

cortical outline involving the

metacarpals and the

phalanges. Expansile lytic

lesion is seen involving 4th

metacarpal. No break in

cortex seen - suggestive of

Brown tumor

Case 4 – Answers Features of hyperparathyroidism

X-ray skull lateral view (July

2012) showing endosteal

resorption with reduced

mineralization of the outer

and inner table of the skull -

suggestive of salt and pepper

appearance of the skull

Complications: Abdominal pain – pancreatitis, constipation, peptic ulcers; nephrocalcinosis;

hypercalcaemia – nausea, anorexia, weight loss, bone pain, polyuria, polydipsia, lack of

concentration, depression, occasionally acute psychosis; renal tubular acidosis – mild

metabolic acidosis

Case 5 - Answers

1. What is the diagnosis?

Familial hypocalcuric hypercalcaemia

Life-long asymptomatic hypercalcaemia

Pancreatitis, gallstones, chondrocalcinosis

Abnormality of calcium-sensing receptor, a G-protein coupled

receptor.

2. How do you confirm the diagnosis

24-hour urinary calcium – low

75% <2.5 mmol/L

95% < 5 mmol/L

Urinary calcium clearance/ creatinine clearance ratio

80% ratio <0.01

Case 6- Answers

What investigation would you perform next to confirm the diagnosis?

A. Skeletal survey

B. Serum PTH level

C. MRI scan lumbar spine

D. Bone marrow biopsy

E. Chest X-ray

Back pain, anaemia, renal impairment, hypergammaglobulinaemia = MULTIPLE

MYELOMA

Bone marrows is the test of choice to CONFIRM diagnosis.

Case 7 - Answers

What investigation would you perform next to establish a diagnosis?

A. CT brain

B. Serum calcium

C. CXR

D. Urine culture

Life-long heavy smoker, persistent cough, weight loss - bronchial carcinoma

Polydipsia, polyuria – nephrogenic DI secondary to hypercalcaemia (bone mets/PTHrP)

Confusion – hypercalcaemia/brain mets

Actions of calcitonin

More specifically, calcitonin lowers blood Ca2+ levels in four

ways:

Inhibits Ca2+ absorption by the intestines

Inhibits osteoclast activity in bones

Stimulates osteoblastic activity in bones.

Inhibits renal tubular cell reabsorption of Ca2+ allowing it to

be excreted in the urine

However, effects of calcitonin that mirror those of PTH include

the following:

Inhibits phosphate reabsorption by the kidney tubules