3. Paeds [Haem & Onc] Flashcards
all exc pancytopenias and thalassaemia
Where do Wilms tumours originate?
Embryonal renal tissue
What is the eponymous name for a nephroblastoma?
Wilms tumour
What is the most common renal tumour of childhood?
Wilms tumour
What’s the typical age at presentation for a Wilms tumour?
80% present before 5 years.
Median age 3.
Very rarely seen after age 10.
Give 2 common presenting clinical features for a Wilms tumour.
Abdominal mass (often incidental)
Painless haematuria
Give 4 less common clinical features that a Wilms tumour could present with.
Abdominal / flank pain
Hypertension
Anorexia
Anaemia (haemorrhage into the mass)
What is the cure rate of a Wilms tumour?
80%
What is the management of a Wilms tumour?
Initial chemotherapy
Delayed nephrectomy
Radiotherapy in advanced disease
Investigations for a Wilms tumour (inc referral criteria).
Unexplained enlarged abdominal mass in children; paediatric review within 48 hours.
US
CT/MRI ; shows characteristic cystic and solid tissue densities
What is the most common cause of thrombocytopenia in childhood?
ITP
What is ITP usually caused by?
Destruction of circulating platelets by antiplatelet IgG autoantibodies.
The reduced platelet count may cause a compensatory increase of megakaryocytes in the bone marrow.
3 clinical features of ITP.
Bruising
Petechiae
Purpura
Bleeding is less common than in adults and would maybe manifest as epistaxis or gingival bleeding. Rare complication is intracranial bleeding, 0.1-0.5%.
Describe the classic age of onset + preceding situation of ITP.
Age 2-10
Onset 1-2 weeks post viral infection or vaccination (usually more acute than in adults)
What type of hypersensitivity reaction is ITP?
Type II hypersensitivity reaction:
cytotoxic, IgG / IgM mediated
What 2 investigations would be used to initially investigate ITP and what would they show?
FBC; isolated thrombocytopenia, often <10x10^9
Blood film
What advice would you give to parents of a child with a new diagnosis of ITP on discharge?
Return to school
Avoid contact sports whilst plt count is low
Emergency contact numbers
Information about condition
Treatment options for severe ITP?
Oral / IV prednisolone
IV Ig
Platelet transfusions in emergency (only transiently increase the plt count as they are destroyed by the circulating autoantibodies)
Bone marrow studies can be done in ITP if there are atypical features. Give 6 atypical features.
Enlarged lymph nodes
Hepatosplenomegaly
Neutropenia (low wcc) or high wcc
Anaemia
Doesn’t resolve
Resistant to treatment
Neuroblastoma is one of the top 5 causes of cancer in children. What tissue do neuroblastomas arise from?
Neural crest tissue in the adrenal medulla and sympathetic nervous system.
What is the median age of onset of neuroblastoma?
20 months
Most common before the age of 5
Give 6 clinical features of a neuroblastoma.
Abdominal mass
Pallor
Weight loss + malaise (from bone marrow suppression)
Bone pain and limp
Hepatomegaly
Paraplegia (from spinal cord compression)
Proptosis
Investigation findings in neuroblastoma:
Raised urinary catecholamine metabolite levels (VMA/HVA)
US / MRI scan of mass
Biopsy
Calcification on AXR?
MIBG scan (maps metastatic tumours)
What kind of scan is best for brain tumours?
MRI brain and spine
Also consider LP for complete investigation as they can metastasise into the CSF caution with raised ICP consult neurosurgeons
As some brain tumour types can metastasise within the CSF, what investigation (apart from MRI) is required for complete staging of the disease? + caution
LP
Any indication of raised ICP; neurosurgical advice
What is the most common primary brain tumour in children?
Pilocytic astrocytoma
What is a haemangioblastoma?
vascular tumour of the cerebellum
Where does a medulloblastoma arise from?
Arises from the midline of the posterior fossa (infratentorial compartment) and spreads through the CSF system.
20% have spinal mets at diagnosis
What type of tumour commonly arises in the 4th ventricle and are generally aggressive tumours that require complete resection and radiotherapy?
Ependymoma
Describe the rough epidemiology of bone cancer types in children.
Osteosarcoma is the most common, but Ewing’s is more common in younger children.
What is an osteochrondroma?
Most common benign bone tumour.
Male predominance, usually diagnosed under the age of 20.
Cartilage-capped bony projection on the external surface of a bone.
Describe features of a Ewing’s sarcoma, including region, x-ray appearances and genetic associations.
Pelvis and long bones.
Onion skin appearance.
Small round blue cell tumour.
t(11:22) translocation.
Tends to cause severe pain.
Describe features of an osteosarcoma including tumour type, region, genetic associations and a-ray appearances.
Codman’s triangle of periosteal elevation.
Sunburst appearance.
Long bones in the metaphysis before the epiphyseal closure. Femur > tibia > humerus.
Mutation of Rb gene significantly increases risk of osteosarcoma.
Predisposing factors include Paget’s disease and radiotheraphy.
What are the 2 main complications of an osteosarcoma?
Pathological bone fractures
Metastasis
What symptoms might a child with a bone cancer present with, including Ewing’s sarcoma specific extra symptoms?
Persistent bone pain, including disturbing sleep
Bone swelling
Palpable mass
Restricted joint movements
Ewing specific include fever, anaemia and anorexia.
Discuss management for bone tumours in children.
Multimodal, with chemotherapy prior to surgery to resect and then sometimes radiotherapy.
Other immunotherapies etc can also be warranted.
Which investigations are commonly done to define a bone lesion and stage a possible cancer in children?
Plain x-ray
MRI
Bone scan
CT to check for metastases
Biopsy inc marrow infiltration
What is one of the main complications of brain tumours and what can it result in?
Hypothalamic-pituitary dysfunction
Can result in Diabetes Insipidus and Adrenal Insufficiency due to pituitary dysfunction.
DI can present post op (suprasellar) with excess urination, high serum sodium >145, dilute urine and weight loss. Should be managed with good fluid management and balances +/- desmopressin.
What is the most common paediatric supratentorial tumour (most paediatric brain tumours are infratentorial), where does it derive from and how might it present?
Craniopharyngioma
Solid or cystic tumour of the sellar region derived from remnants of Rathke’s pouch.
May present with hormonal disturbance, symptoms of hydrocephalus or bitemporal hemianopia. Pituitary bloods and MRI done.
What symptoms might a child of any age present with if they have a brain tumour?
Persistent / recurrent vomiting
Lethargy
Problems with balance
Afebrile seizures
Abnormal eye movements
Abnormal head position
If a child has extreme raised ICP due to a brain tumour what symptoms may they present with, and what are common management strategies for this presentation?
Hypertension
Irregular respirations (Kussmaul breathing)
Bradycardia
Reduced GCS
Dexamethasone to reduce peri-tumour swelling.
?EVD
?VP shunt
Developmental age is very important when investigating a child for a potential brain tumour as presentation varies according to age and ability to report symptoms. Give some symptoms that an infant may present with vs an older child.
Infant:
Developmental delay / regression
Head circumference increase
Bulging fontanelle
Older child:
Headache
Blurry vision
School performance downhill
Delayed / arrested puberty
What is the most common ocular malignancy in children and what is the average age of diagnosis?
Retinoblastoma
18 months
Describe the genetics of a retinoblastoma.
AD inheritance
Loss of function of the Rb tumour suppressor gene on chromosome 13
Hereditary in 10% of cases
Give 3 common clinical features of a retinoblastoma.
Leukocoria (loss of red reflex, replaced with white pupil)
Strabismus (squint)
Visual problems
What is the standard investigation for a suspected retinoblastoma, and typical management options?
MRI
Enucleation sometimes needed, but other options include chemo, local laser radiotherapy etc.
There are 2 types of lymphoma, Hodgkin’s and NHL. Which is more commonly seen in childhood vs adolescence?
Hodgkin’s = adolescence
NHL = children
What type of lymphoma is Burkitt’s, and what are the 3 variants of Burkitt’s lymphoma?
Burkitt’s is a b-cell NHL.
Endemic e.g. West Africa this is the most common variant as chronic malaria infection is thought to reduce resistance to EBV.
Sporadic e.g. EBV infection
Immunodeficiency associated e.g. HIV or immunosuppression post transplant.
Discuss the presentation of a Hodgkin’s lymphoma.
Painless lymphadenopathy.
Symptoms can arise from pressure on local structures e.g. cough.
B symptoms tend to NOT be seen, even in advanced disease in children.
What investigations should be done in suspected lymphoma?
Lymph node biopsy
Radiological investigation of lymph node sites e.g. CT/MRI
Bone marrow biopsy to stage disease
PET scans are done to monitor response to treatment and plan further management.
What is the treatment common to all types of lymphoma, and how might Hodgkin’s differ?
Multiagent chemotherapy
Hodgkin’s lymphoma may require radiotherapy
Discuss NHL presentation.
T-cell disease may present with a mediastinal mass with varying degrees of marrow infiltration. Can cause SVCO.
B cell may present with painless lymphadenopathy in head, neck or abdomen with a short history of illness. Abdo disease may present with pain from obstruction, a palpable mass or even intussusception if ileal involvement.
Which type of leukaemia accounts for 80% of leukaemia in children?
ALL
Signs and symptoms of ALL can be split into 4 categories relevant to what they affect. What are the 4 categories and give some relevant signs and symptoms for each one.
General: malaise, anorexia
Bone marrow infiltration: thrombocytopenia (bruising, petechiae, nose bleeds), anaemia (pallor, lethargy), neutropenia (infection), bone pain and limp
Reticulo-endothelial infiltration: hepatosplenomegaly, lymphadenopathy
Other organ infiltration (though rare at presentation and more common at relapse): CNS inc headache and nerve palsies, testicular enlargement
What is one of the major risks associated with leukaemia?
Tumour lysis syndrome: cell lysis induced by chemotherapy that causes electrolyte shifts and can cause AKI, seizures, arrhythmias and even death.
Hyperuricaemia
Hyperkalaemia
Hypophosphataemia and hypocalcaemia
Treat with allopurinol and rasburicase to reduce urate levels to reduce risk of AKI.
Why must aggressive treatment be commenced in any child with a fever with leukaemia and other malignancies, and what should this include?
Big risk of overwhelming infection as they can’t amount an adequate immune response due to bone marrow suppression from their disease or their chemo.
Investigations for cause should be done, including blood cultures from e.g. any indwelling lines.
Started on broad spec antibiotics: PIP/TAZ +/- gentamicin if neutropenic.
ALL prognosis is generally >85%, but what are some poor prognostic factors for those with ALL?
Age <1 year or >10 years
Male
T-cell lineage
WCC >50 at presentation (?20)
Chromosome abnormalities e.g. t(9:22)
CNS mets
Speed of response to initial chemo, and persistence of blasts in bone marrow
Give 3 predisposing conditions / factors for ALL in children.
Trisomy 21
Fanconi’s anaemia
Ionising radiation
Why should a coag screen be done in suspected ALL in a child?
10% of patients with acute leukaemia have DIC at time of diagnosis (may present with haemorrhagic or thrombotic complications).
What is the essential investigation to confirm a diagnosis of ALL?
Bone marrow biopsy
Discuss the typical management plan for ALL in a child.
Correct anaemia (?blood transfusion), platelets (transfusion of platelets to reduce risk of bleeding) and infection (abx).
Remission induction with combination chemo and steroids.
Block of intensive chemotherapy.
?intrathecal chemo if evidence of CNS disease
Describe the genetic inheritance pattern of haemophilia A and B.
X-linked recessive
Mainly affects males.
For a female to be affected would require an affected father and carrier mother.
2/3 have a family history
1/3 spontaneous
Most cases of haemophilia present in the neonatal period or early childhood. Give 3 possible presentations in a neonate.
Cephalohaematoma
Intracranial haemorrhage
Cord bleeding
Haemophilia A and B are both severe bleeding disorders. Describe some of the sites of bleeding and features that a patient with one of these disorders may experience.
Haemarthrosis
Oral mucosa
Nose bleed
GI tract
Urinary tract
Post surgery
What 3 medical interventions / drugs are contraindicated in people with haemophilia?
NSAIDs
Aspirin
IM injections
What would be seen in a coagulation screen of someone with haemophilia, and what other tests are useful in bleeding disorder scenarios?
Prolonged APTT
Normal PT
Useful to look at VWF, clotting factor levels etc.
What is the management of haemophilia?
IV infusion of the deficient clotting factor e.g. VIII or IX.
Can be given regularly or in response to bleeding. Goal is to maintain trough factor concentration of 1%.
Give 3 complications of the treatment for haemophilia.
Antibodies to clotting factor being given aka inhibitors. This occurs in 30% of those with A, and 3% of those with B.
Transfusion transmitted infections.
Vascular access problems including difficult peripheral access or compromised central via thrombosis etc.
State 4 categories of clinical features that are helpful when evaluating bleeding disorders.
Age of Onset
Family History
Bleeding History
Bleeding Patterns
State 4 recognised types of sickle cell crisis.
Splenic Sequestration: sickling within organs causes pooling of blood and worsening of anaemia. Associated with increased reticulocyte count. Can be fatal as can lead to hypoxic heart failure.
Aplastic Anaemia: parvovirus infection causes this. Sudden fall in haemoglobin, and there is bone marrow suppression that causes a reduced reticulocyte count.
Acute Chest Syndrome; vaso-occlusion within the pulmonary vasculature leading to SOB, chest pain, pulmonary infiltrated and low sats. Mx inc pain relief, o2, antibiotics, transfusion
Vaso-occlusive; common sites include hands and feet in children, AVN of hip, lungs spleen and brain
Also priapism and vaso-occlusive strokes
Why are patients with sickle cell disease at increased risk of infection, and what is done to manage this?
Vaso-occlusive crises and suboptimal splenic function are associated with increased risk of infection especially with encapsulated organisms like H.influenzae.
5 yearly pneumococcal vaccination
Penicillin V prophylaxis
When do symptoms first start presenting in sickle cell disease and why?
4-6 months
This is when HbSS takes over as the main form of haemoglobin from HbF.
What are the routine management strategies for sickle cell disease?
Transfusions to treat anaemia (sickle rbcs are more fragile) and decrease the % of HbS.
Hydroxycarbamide / urea to increase % of HbF.
Folic acid and vitamin D.
Discuss the pathophysiology of sickle cell disease, including differences between HbAS and HbSS.
Autosomal recessive condition that results in synthesis of abnormal haemoglobin chain HbS.
Sickle cell trait = HbAS
Homozygous disease = HbSS
There is reduced water solubility of deoxy-Hb. In a deoxygenated state the HbS molecules polymerise and cause RBCs to sickle
What 3 factors precipitate a vaso-occlusive crisis in sickle cell disease?
infection
dehydration
deoxygenation e.g. high altitude
Why is sickle cell disease more common in people of African descent?
Because the heterozygous condition offers some protection against malaria.
Carriers are only symptomatic if severely hypoxic.
Features on a blood film that would suggest hyposplenism:
Erythrocytes
Howell Jolly bodies
Target cells
Hypochromic
