Haem/Onc

Question 1

Explain features of a retinoblastoma?

Answer 1

Autosomal dominant condition caused by loss of function of the retinoblastoma tumour suppressor gene.
Presentation - absence of red reflex which is then replaced by a white pupil (leukocoria), strabismus and visual problems.
Rx - Enucleation, external beam radiation therapy, chemotherapy or photocoagulation.
Excellent prognosis

Question 2

What is a Wilms tumour and its associations?

Answer 2

Nephroblastoma.
Associated with Beckwith-Wiedemann syndrome, WAGR syndrome and hemihypertrophy

Question 3

Presentation of Wilm’s tumour and when should you send urgent referral?

Answer 3

Presentation - Abdominal mass, painless haematuria, flank pain, anorexia, fever, lung mets.
Referral - any child with unexplained enlarged abdominal mass should ger paeds review in 48hr.

Question 4

Management of Wilm’s tumour?

Answer 4

Nephrectomy, chemotherapy, radiotherapy id advanced disease.

Question 5

What is WAGR syndrome?

Answer 5

Wilms tumour
Aniridia (Partial or complete absence of iris)
Genitourinary malformations,
mental Retardation

Question 6

What is a neuroblastoma?

Answer 6

Tumour arising from neural crest tissue or adrenal medulla or sympathetic nervous system.
Median age of onset is ~ 20 months.

Question 7

Presentation and investigations for neuroblastomas?

Answer 7

Presentation - abdominal mass, pallor, weight loss, bone pain, limp, hepatomegaly, paraplegia and proptosis.
Ix - Raised VMA (urinary vanillymandelic acid) and HVA (homovanillic acid levels). Calcification on abdominal X ray.

Question 8

Features of glioblastoma multiforme - including histology?

Answer 8

Solid tumour with central necrosis and rim enhancement.
Vasogenic oedema.
Histology: Pleomorphic tumour cells border with necrotic areas.

Question 9

Features of meningioma - including histology?

Answer 9

Arises from arachnoid cap calls of meninges. Compression > invasion.
Histology: Spindle cells in concentric whorls and calcified psammoma bodies.

Question 10

What is the most common brain tumour in children and its histology?

Answer 10

Pilocystic astrocytoma.

Histology; Rosenthal fibres (corckscrew eosinophilia bundle)

Question 11

Explain features of medulloblastomas?

Answer 11

Aggressive paeds brain tumour.
Spreads through CSF system.
Histology: Small, blue cells. Rosette pattern of cells with many mitotic figures.

Question 12

Explain features of ependymoma?

Answer 12

Commonly seen in 4th ventricle so may cause hydrocephalus.
Histology: pericascular pesudorossetes.

Question 13

Explain features of oligodendromas?

Answer 13

Benign, slow growing tumour in frontal lobes.

Histology: Calcification with ‘fried egg’ appearance.

Question 14

Explain features of haemangioblastoma

Answer 14

Vascular tumour of the cerebellum.
Associated with von Hippel-Lindau syndrome.
Histology: Foam cells and high vascularity.

Question 15

Explain features of craniopharyngioma

Answer 15

Solid/cystic tumour of the sellar region derived from remnants of rathke’s pouch.
May present with hormonal disturbance, hydrocephalus, bitemporal hemianopia.
Histology: Derived from remnants of Rathke pouch.

Question 16

Features of ITP in children?

Answer 16

May follow infection or vaccination.
Presents with bruising, petechial or purpuric rash,
Ix: FBC, blood film. Only do marrow if atypical features (lymph node enlargement, splenomegaly, high or low white cells, failure to respond to treatment).
Rx: Supportive. Unless very low platelet count or significant bleeding.