Neuro, Wilms, Retinal, Bone and Hepato-tumours Flashcards
What is a neuroblastoma? Ex?
- Arises from the neural crest tissue in the adrenal medulla and sympathetic nervous system.
- Ex: Most common before 5yrs, from benign (ganglioneuroma) to highly malignant (neuroblastoma)
Clinical presentation of neuroblastoma?
1) ABDOMINAL MASS - primary tumour can lie anywhere along sympathetic chain from neck to pelvis.
2) Common symptoms:
- pallor
- weight loss
- abdominal mass
- hepatomegaly
- bone pain and limp
3) Less common: paraplegia, cervical lymphadenopathy, proptosis and periorbital bruising.
4) Over 2 yrs - clinical Sx mainly from metastasis - bone pain and bone marrow suppression - weight loss and malaise
Ddx of neuroblastoma?
Abdominal distention/mass ddx: hepatoblastoma, Wilms tumour, enlarged kidneys (polycystic), constipation.
Diagnosis of neuroblastoma?
1) Characteristic: RAISED CATECHOLAMINE LEVELS
2) Confirmatory biopsy - DIAGNOSTIC
3) Bone marrow sampling to assess metastasis
4) Poor prognosis for children over 1yr - very advanced disease
Treatment of neuroblastoma?
- Surgical resection - localised primary tumours without metastasis can be cured
If metastatic:
1) Chemotherapy (high dose)
2) Stem cell transplant
3) Surgery and radiotherapy
4) HIGH RISK OF RELAPSE
(Immunotherapy being developed alongside long-term maintenance treatment with retinoic acid.
What is Wilms tumour (nephrobastoma)?
- Originates from embryonal renal tissue.
- Commonest renal tumour of childhood, majority present before 5 yrs and rarely seen after 10 yrs.
Sx, Ddx, Dx of Wilms tumour?
Sx: LARGE ABDOMINAL MASS.
Rare - abdominal pain, anorexia, anaemia, haematuria, and hypertension.
Ddx: Neuroblastoma, renal cell carcinoma
Dx: Ultrasound and/or CT/MRI shows intrinsic renal. mass distorting normal structure. Staging to assess distant metastasis (usually lung)
Treatment of Wilms tumour?
1) Initially given Chemotherapy - Vincristine, Dactinomycin, Doxorubicin.
2) Delayed nephrectomy: tumour staged histologically and subsequent treatment according to histological findings.
3) Radiotherapy restricted to more advanced disease
Good prognosis if not metastatic.
What is Retinoblastoma? Ex, Ax, and RF?
- Malignant tumour of the retinal cells.
Ex: Rare but accounts for severe visual impairment in children, all bilateral tumours and 20% unilateral tumours are hereditary - autosomal dominant but with incomplete penetrance. Present in first 3yrs, children with FH should be screened regularly from birth.
Ax - mutation in tumour suppressor gene RB1.
RF: Family history
PPx of Retinoblastoma?
- Two mutations needed to ‘knock out’ gene and cause uncontrolled cell growth.
- Inherited retinoblastoma - first mutation inherited from patient, second occurs during retinal development (75-90% chance of second mutation to occur)
- Sporadic retinoblastoma - both mutations occur during development of the retina.
- Some children may not develop condition but can pass mutation on to offspring.
Clinical presentation of retinoblastoma? Ddx and Dx?
1) Loss of red reflex - replaced by white pupillary reflex
2) Squint
3) Pain and redness around one eye
4) Vision changes/impairment in child’s vision
Ddx: Congenital cattaracts
Dx: Fundoscopy examination and MRI.
Treatment of retinoblastoma?
Aim to cure yet preserve vision.
1) Chemotherapy used in bilateral disease to shrink tumour followed by local laser treatment of the retina.
2) Radiotherapy used in advanced disease or recurrence.
3) Very advanced disease - enucleation surgery of the eye (removal)
Majority cured but become visually impaired - significant risk of second malignancy especially sarcoma.
Bone tumour Ex, RF?
Ex: Malignant bone tumour very uncommon before puberty, osteogenic sarcoma more common that Ewing sarcoma but Ewing sarcoma seen more often in young children. Both more common in males.
RF: Male
Presentation and Dx of Bone tumour?
1) Limbs most common site
2) Persistent localised bone pain - characteristic
3) Otherwise well
Dx:
1) X-ray indicated for persistent localised bone pain - shows destruction and variable periosteal new born formation.
2) MRI and bone scan - Ewing sarcoma - substantial soft tissue mass.
3) Chest CT to assess metastasis
Treatment of bone tumour?
1) Combination chemotherapy given before surgery
2) Amputation avoid - resection of tumour with endoprosthetic resection (replacing bone with prosthesis)
3) Radiotherapy used in Ewing sarcoma for local management of disease, especially when resection is impossible/incomplete (pelvic/axial skeleton)
Hepatoblastoma Ex and Sx?
- Primary malignant liver tumours - mostly hepatoblastoma (65%), rest are hepatocellular carcinoma (20%).
- Sx: Abdominal distention or with an abdominal mass
- Pain and jaundice are rare.
- Systemic symptoms - W/l, lethargy, fever, vomiting.
Hepatoblastoma Dx and Tx?
Dx: ELEVATED serum ALPHA-FETOPROTEIN in nearly all cases of hepatoblastoma (and some cases of hepatocellular carcinoma).
- CXR, CT/MRI and ultrasound - see detailed information about tumour (position, size) and check for metastasis.
- Biopsy - confirmation
Tx:
1) Chemotherapy and surgery
2) Inoperable cases - liver transplant required
3) Can be cured in majority of cases, hepatocellular carcinoma has a worse prognosis
