Paeds malignancy, haem, derm Flashcards
What type of tumour are the majority of CNS tumours in children?
Astrocytoma (pilocystic astrocytoma = most common)
Where are astrocytomas found?
Cerebellum
Where are medulloblastomas found?
Cerebellum
Where are ependymomas found?
Posterior fossa
What is the WHO grade for pilocystic astrocytoma?
Grade I
What syndrome is associated with pilocystic astrocytoma?
Neurofibromatosis 1
How will pilocystic astrocytoma appear on MRI?
Cerebellar, well-circumscribed, cystic and enhancing
What mutation is most common in pilocystic astrocytoma?
BRAF
Recall the signs and symptoms of pilocystic astrocytoma
Headaches (worst in morning) Gait problems, co-ordination problems Visual changes Vomiting on waking Failure to thrive Behaviour/ personality change Later sign = papilloedema due to raised ICP
What is the typical picture of benign intracranial HTN (not malignant cause)?
Normal MRI, normal exam, papilloedema, 14y/o, high BMI
Which investigation is most appropriate in investigating an astrocytoma?
MRI
What is the specialised member of the MDT in childhood cancer cases?
CLIC Sargent (cancer and leukaemia in children social worker)
What is the first-line management for astrocytoma?
Surgery
Which CNS tumours can be treated with radiotherapy?
Gliomas and metastases
Which CNS tumours can be treated with chemotherapy?
High grade gliomas
What % of ALL is B lineage vs T lineage?
85% B, 15% T
What % of leukaemia is ALL vs AML in children?
80% ALL, 20% AML
Recall the signs and symptoms of ALL
BM failure (anaemia, thrombocytopaenia, neutropaenia) Local infiltration --> lymphadenopathy, hepatosplenomegaly, bone pain, testes/CNS Leukaemia cutis = petechial rash on face + trunk
What is raised in tumour lysis syndrome?
Potassium, LDH, phosphate, uric acid
What will be seen on CXR in ALL?
Enlarged thymus
What results of BM biopsy would be diagnostic of ALL?
> 20% blasts in BM/ peripheral blood
Immunological and cytological characteristics
What should be the immediate management of a high WCC in ALL?
TLS needs to be reduced: allopurinol and hyperhydration
How many years of chemotherapy are necessary in ALL?
2-3 years
Boys are treated for longer because testes are a site of accumulation of lymphoblasts
What therapies can be given alongside chemotherapy in ALL?
CNS-directed therapy (if LP is negative initially)
Molecular treatment
Transplantation
What types of molecular treatment are available for ALL?
Imatinib (TK inhibitor) for Ph +ve cases
Rituximab (monoclonal antibodies against CD20 for B cell depletion)
What age group are NHL/HL most common in?
NHL = childhood HL = adolescence
Which of NHL/HL is more likely to be localised to one nodal site?
Hodgkin’s lymphoma
Compare the spread of HL vs NHL
HL = spreads contiguously to adjacent lymph nodes
NHL involves multiple sites and spreads sporadically
Recall the signs and symptoms of HL
Painless cervical lymphadenopathy
B symptoms are uncommon, even in advanced disease
Painful on drinking alcohol (in 10%)
Recall the investigations and results that are standard for HL
LN biopsy: Reed Sternberg cells
PDG-PET/ CT staging: Ann Arbor
Bloods: FBC, ESR, LFTs, LDH, Alb (prognostic markers)
Immunophenotyping (CD30, CD15 - diagnostic markers)
How should HL be managed?
Combination chemotherapy (ABVD) and radiotherapy
Recall the chemotherapy regime used in paediatric HL
ABVD Adriamycin Bleomycin Vincristine Dacarbazine
Recall the signs and symptoms of NHL
Painless lymphadenopathy +/- compression syndrome
B symptoms - fever, weight loss, night sweats
Recall the useful investigations and their results in NHL
LN/BM biopsy for cytology, histology and immunophenotyping
PDG-PET/ CT staging - Ann Arbor
Bloods - FBC, ESR, LFTs, LDH, Alb (prognostic)
Recall the management approach dependent on the type of NHL
- Urgent chemo
- Monitor only
- Abx eradication - H pylori gastric MALToma
What chemotherapy regime is used in NHL?
R-CHOP Rituximab Cyclophosphamide H - adriamycin?? O - vincristine??? Prednisolone
What is Burkitt’s lymphoma a type of?
B cell NHL
What are the different variants of burkitt’s lymphoma - and what are their different causes?
Endemic (EBV)
Sporadic (EBV)
Immunodeficiency (HIV)
Why is endemic Burkitt’s so common in Africa?
Chronic malaria reduced EBV resistance
What part of the body does Burkitt’s lymphoma affect?
JAW/ facial bones
What type of cell does burkitt’s lymphoma arise from?
Germinal centre cells
What is the histopathological appearance of burkitt’s lymphoma?
Starry sky
What translocation is most common in burkitt’s lymphoma?
t(8;14)
What is the prognosis for burkitt’s lymphoma?
Really bad as fastest growing human tumour known
Where does osteosarcoma tend to occur?
Long bones - 60-75% in the knee
Recall the signs and symptoms of osteosarcoma
Relatively painless
Mass/ swelling
Restricted movement
Where does osteosarcoma tend to metastasise to?
Lung
What will be shows on XR in osteosarcoma?
Soft tissue calcification - sunburst appearance
Elevated periosteum = Codman’s triangle
What investigations should be done following XR in suspected osteosarcoma?
Biopsy
CT/MRI/PET
How should osteosarcoma be managed?
Specialised sarcoma team
Surgery + chemo
Post-treatment OT/PT/ orthotics etc
What is the surgical management of osteosarcoma?
Limb-sparing surgery +/- amputation
What is the prognosis for osteosarcoma?
Poor - 60% 5 year survival
What is the difference between osteosarcoma and Ewing’s sarcoma?
Osteosarcoma forms bone
Ewing’s sarcoma forms mesenchymal tissue
How does Ewing’s sarcoma appear under the microscope?
Small round blue cell tumour
What is the median age of Ewing’s sarcoma development?
15y
Where does Ewing’s sarcoma develop?
Long bones - arms, chest etc
What translocation is associated with Ewing’s sarcoma?
t(11:22)
What are the signs and symptoms of Ewing’s sarcoma?
Mass/ swelling and bone pain (no pain in osteosarcoma)
Malaise, fever, paralysis (may precipitate osteomyelitis)
What investigations are appropriate to investigate Ewing’s sarcoma?
XR
Biopsy
CT/PET/MRI
What would be seen on XR in Ewing’s sarcoma?
Bone destruction with overlying onion-skin layers of periosteal bone formation
What is the main management of Ewing sarcoma?
Surgery + VIDE chemotherapy + radiotherapy
What management should be given post-treatment for osteosarcoma?
OT, PT, dietician, orthotics/ prosthetics
Which cells have undergone malignant transformation in retinoblastoma?
Retinal cells
What is the main difference in presentation between hereditary and spontaneous retinoblastoma?
Hereditary is nearly always bilateral whereas spontaneous is unilateral
Recall the pattern of inheritance of retinoblastoma
Autosomal dominant mutation on chromosome 13
Recall the 2 key signs and symptoms of retinoblastoma
Negative red reflex
Squint
Recall the 2 key investigations in retinoblastoma
MRI and EUA (examination under anaesthetic)
How should retinoblastoma be treated?
Enucleation ( eye removal)
Chemotherapy (BL) + laser treatment to retina
What is the average age of diagnosis of retinoblastoma?
18 months
What type of tissue and where does neuroblastoma arise?
Neural crest tissue in adrenal medulla and SNS
What is a benign tumour of the same tissue as neuroblastoma originates from called?
Ganglioneuroma
Which gene is associated with a poor prognosis for neuroblastoma?
N-MYC
Where is the mass most likely to be found in neuroblastoma?
Abdomen
Recall the symptoms of neuroblastoma
Systemic: WL, pallor, hepatosplenomegaly, bone pain, limp
What additional symptoms of neuroblastoma are likely in people under 2 years?
Symptoms of metastases (poorer prognosis in under 1s)
What urinary abnormality may be seen in neuroblastoma?
Urinary catecholamine metabolites eg VMA/HVA
How should neuroblastoma be managed?
In very young infants spontaneous regression can occur
If localised primaries with no metastases –> surgery alone
If metastatic: chemotherapy + radio (with autologous stem cell rescue) + surgery
In general, which haematological disorders are autosomal dominant vs recessive?
Dominant = generally structural disorders Recessive = generally metabolic disorders
Which genetic abnormality predisposes women to haemophilia?
Turner’s syndrome
When is haemophilia most likely to present, and with what symptoms?
At around 1y, as this is when walking (and therefore falling) begins
Haemarthrosis
Suspicions of NAI (if no FH)
How does haemophilia present if it presents at neonatal age?
Intracranial haemorrhage
Bleeding circumcision
Prolonged bleeding from venepuncture
Which measures of clotting time are normal vs prolonged in haemophilia?
PT normal, APTT prolonged(PT is extrinsic, APTT is intrinsic)
In girls, what is the top alternative differential for the same signs and symptoms as haemophilia?
vWD
How should mild haemophilia be managed?
Desmopressin - this stimulates f8 and vWF release
How should severe haemophilia be managed?
Prophylactic factor replacement via Hickman line
How should minor bleeds be managed in haemophilia?
IV infusion of f8/9 concentrate - raise to 30% normal
How should major bleeds be managed in haemophilia?
IV infusion of f8/9 concentrate - raise to 100%, then maintain at 30% for 2w
What is the other name for idiopathic thrombocytopaenic purpura?
Immune TP
In what age group is ITP seen?
2-6y
What is the most common cause of ITP?
Viral infection - ITP presents about 1-2w later
Recall the aetiology of ITP
Immune destruction of platelets by IgG autoantibodies
How should ITP be investigated?
Diagnosis of exclusion - do an FBC and blood smear
How should ITP be managed?
In 80% of children it is acute, benign and self-limiting: will resolve spontaneously within 6-8w
Only treat if evidence of major bleeding or persistent minor bleeding
How should major bleeding in ITP be managed?
IV Ig + corticosteroids + anti-RhD
How should life-threatening haemorrhage be treated in ITP?
Platelet transfusion
When is ITP considered chronic?
after 6 months persistence
How should chronic ITP be managed?
Mycophenalate mofetil
Rituximab
Eltrombopag (thrombopoeitin agonist)
2nd line = splenectomy
Recall the symptoms of IDA In children
May be asymptomatic
Feeding slowly, tiring quickly, “pica” (eating soil, dirt, etc)