Solid tumours

Question 1

What is the most common solid tumours after brain tumours?

Answer 1

Neuroblastoma

• 8% of childhood tumours
• most frequently diagnosed cancer in infants
• median age 2 years

Question 2

Where does neuroblastoma arise from?

Answer 2

Neural crest primitive sympathetic nervous system

• adrenal medulla (40% of children, 25% of infants)
• retroperitoneal sympathetic chain (30%)

Infants tend to present with localised disease in cervical / thoracic region

Child with abdominal neuroblastoma tend to present with disseminated disease

Question 3

What are conditions a/w neuroblastomas?

Answer 3

Beckwith-Wiedeman (but usually with wilms)
Hirschsprung’s
NF1

Question 4

What are the genetic markers of prognostic significance in neuroblastoma?

Answer 4

N-myc (proto-oncogene) amplicfication on chr 2 
- 25% of neuroblastoma 
- present in 30% of advanced disease 
shorter time to relapse 
poor prognosis 

Triploidy / hyperploidy = good outcome

Chr 1 p deletion
- most common - poor out common

Question 5

What are some specific clinical features of neuroblastoma presentation?

Answer 5

Abdominal mass
- crosses midline

Cervical
- horner syndrome

HTN (catecholamines) 
secretory diarrhoea (VIP / somatostatin secretion) 

Paraneoplastic phenomenon

• opsoclonus-myoclonus (chaotic eye movement, truncal ataxia, myoclonus)
• dancing feet

Question 6

What investigations are required for neuroblastoma work up?

Answer 6

primary
- CT / MRI +/- biopsy

metastases

• BM aspirate (bilateral)
• bone scan
• abdo CT / MRI / USS
• Chest x-ray / CT

markers

• increased urinary VMA (end product of dopamine)
• increased urinary HVA (end product of adrenaline / NA)

Question 7

What treatment is used for high risk neuroblastoma?

Answer 7

high dose chemo with stem cell rescue

Maintenance retinoic acid improves survival rate from 20-50%

Question 8

What is Wilm’s tumour?

Answer 8

Nephroblastoma
- think well toddler with a big belly

One of the best prognostic tumours in children with 90% expecting cure

Makes up 5% of childhood cancers

Question 9

What are conditions a/w Wilm’s tumour?

Answer 9

Non-overgrowth (aWT1 gene)

• aniridia
• trisomy 18
• Urogenital malformations: hypospadias, cryptorchidism, renal fusion
• Denys-drash (ambiguous genitalia, renal impairment in 1st year due to mesangial nephrotpathy, wilms by 2nd year)
• WAGR syndrome (stands for Wilm’s, aniridia, genitourinary abN, mental retardation)

Overgrowth syndromes (aWT2 gene)

• Beckwith Weidemann
• Sotos’
• Isolated hemihypertrophy

Question 10

What is the significance of WT1 (chr 11p13) in Wilms?

Answer 10

encodes a zinc finger transcription factor critical for normal kidney development

• a/w aniridia and genitourinary malformations
• only present in 5-10% of wilms

Question 11

What is the significance of WT2 (chr11p15) in Wilms?

Answer 11

a/w overgrowth syndromes

neighbouring gene in same locus as BWS

Question 12

What is the significance of p53 in wilms?

Answer 12

poor prognostic factor

- present in 85% of anaplastic wilms

Question 13

What are prognostic factors of importance in Wilms?

Answer 13

Tumour size (>500g is worse)
Stage
Histology

Question 14

What clinical presentation would you expect from Wilms’?

Answer 14

Abdominal mass in otherwise healthy child
HTN (25%)
Macroscopic haematuria (20%)
Pain / fever / vomiting / anorexia (rare)
Signs of venous obstruction (tumour thrombosis / IVC occlusion)
Risk of rupture (limit palpation as spillage –> upstages to stage III requiring more aggressive therapy

10-15% have mets at diagnosis
- lymph nodes, veins, lung (80%), liver

Check coagulation!
- acquired von Willebrand syndrome in 5-10% can occur due to hydralonic acid