Haem + Cancer Flashcards
What is the general phenotypic rule for autosomal recessive vs dominant haematological disorders?
Recessive –> Metabolic defects
Dominant –> Structural defects
What is haemophilia? How is it inherited?
Deficiency of F8 (A) or F9 (B) - an intrinsic pathway defect. It is X linked recessive (therefore if females are affected, they likely have Turner’s disease)
How may haemophilia present?
Sx:
- Usually around 1yo (where walking and falling begins)
- Haemarthrosis (–> arthritis)
- Suspicions of NAI (if no FHx)
- Some present at neonatal age (40%) with intracranial haemorrhage, bleeding circumcision or prolonged bleeding from venepuncture/Vit K injection/umbilical cord separation
How can F8/9 deficiency severity be generally estimated?
Mild (>5%) F8/9 levels - bleeding after surgery
Moderate (1-5%) - bleeding after minor trauma
Severe (<1%) - spontaneous bleeding i.e. joints/muscles
How would you investigate suspected haemophilia?
Ix:
- Neonatal history (previous prolonged bleeding)
- FHx
- Clotting studies (PT/INR for extrinsic pathway which PT will be normal; and APTT for intrinsic pathway which will be PROLONGED)
- Platelet count (FBC) and factor 8 levels (F8 is low in vWD in addition to Haemophilia A)
How would you manage a child with haemophilia? What must you avoid and what are some complications?
MDT based (Haemophilia centres):
- Mild HA only -> Desmopressin (stimulates F8 and vWF release)
- Severe Haemophilia - prophylactic factor replacement via Hickman line (central venous line) which is done at home at 2-3yo, 2-3x/week -> raise baseline to >2%
IF actively bleeding - give infusion of F8/9 concentrate where you are raising to either 30% normal to treat minor bleeds or 100% normal and maintain at 30% for 2/52 to prevent secondary haemorrhage
AVOID - IM injections, aspirin and NSAIDs
complications = chronic arthropathy, compartment syndrome, haematuria, HBV (transfusion-related)
What is ITP and how does it present?
ITP = idiopathic thrombocytopenic purpura
- most common cause of thrombocytopenia in childhood
- presents between 2-6yo, often 1-2w POST-VIRAL infection
- caused by immune destruction of platelets by IgG autoantibodies
Sx:
- short history (days-weeks)
- petechiae, purpura rash
- superficial bruising
- may see epistaxis and other mucosal bleeding
- no systemic symptoms
How would you investigate suspected ITP?
Ix:
- FBC (exclude cancers e.g. ALL by checking no pancytopenia and only PLATELETS reduced)
- Blood smear
How would you manage ITP? [Acute vs Chronic]
Mx:
- 80% of children it is acute, benign and self limiting; resolves in 6-8w and are just OBSERVED - treatment only if evidence of major bleeding (e.g. intracranial) or persistent minor bleeding
Major bleeding (plts<20x10^9):
- IVIG + Corticosteroids +/- anti-RhD*
- ++ plt transfusion for life threatening haemorrhage (raises levels for a few hours)
*Anti-RhD coats the RBCs and is preferentially removed by the reticuloendothelial system instead of Ab-covered platelets thereby conserving plt levels
Chronic disease: (Plts low for 6/12 post-diagnosis) - Myocphenolate mofetil - Rituximab - Eltrombopag (thrombopoeitin agonist) - 2nd line is splenectomy
note: avoid NSAIDs/Aspirin
What are the main causes of IDA in infants/children? How may children with IDA present?
Causes:
- Malabsorption
- Blood loss
- Inadequate intake
Sx:
- Asymptomatic (until <60-70g/L)
- Feed slowly/tire quickly
- “Pica” - eating ice, dirt
What are some iron sources?
- Breast milk (low content but 50% absorbed)
- Infant formula
- Cow’s milk (high content but 10% absorbed)
- Solids introduced at weaning e.g. cereals
How would you Ix IDA?
Ix:
- FBC - low Hb
- Blood film - microcytic, hypochromic RBCs
- Low ferritin
- Reticulocytes (normal/high)
- Normal BR (raised in haemolysis)
How would you manage IDA?
Mx:
- Dietary advice -> green leafy veg, red meat, apricots/raisins, fortified cereals
- Oral ferrous sulphate 200mg TDS until normal Hb, then continue at least 3/12 after
- > recheck iron levels 2-4w after therapy (at 3w, Hb should rise 2g/100ml)
- > if normal, check at 2-4m; if not address compliance
- > advise that black stools are common and normal SE, but reduced by eating with food or reducing dose
State the causes of microcytic, normocytic and macrocytic anaemia?
Microcytic (TAILS):
- Thalassaemia
- Chronic disease (ACD)
- IDA
- Lead poisoning
- Sideroblastic anaemia (congenital)
Normocytic (MR I CALM):
- Marrow failure
- Renal failure
- Iron deficiency (early)
- Chronic disease (early)
- Acute blood loss, aplastic anaemia
- Leukaemia
- Myelofibrosis
Macrocytic (alcholics may have liver failure):
- Alcohol
- Myelodysplasia, MM
- Hypothyroidism, HA
- Liver failure
- Folate/B12 deficiency
How is the structure of haemoglobin controlled?
By chromosome 11 (beta, gamma and delta chains) and chromosome 16 (alpha and epsilon*)
HbA synthesis becomes predominant around 6m of life as HbF falls and HbA takes over.
Describe 2 haemoglobinopathies and how they are caused?
- Sickle cell disease
- defective beta global chain (point mutation at codon 6 in X11 - glutamine->valine)
- autosomal recessive
- RF = African/afro-caribbean descent
Phenotypes:
- BB^ = trait = reduced HbA and + HbS (mild anaemia)
- B^B^ = SCD = greatly reduced HbA and +++ HbS and raised HbF also
- B^cB^ = HbC disease = milder sickling than SCD with reduced HbA and + HbC - Thalassaemia
- B-thalassaemia is the reduced synthesis of beta globin chain
- autosomal recessive, manifesting after the first 3-6m of life after the decrease of HbF
Phenotypes:
- B-thal:B (trait/minor) - reduced HbA, increased HbA2 –> asymptomatic or microcytosis
- B-thal:B-thal (intermediate) - reduced HbA and increased HbA2 and HbF –> mild anaemia
- B-thal:B-thal (major) - greatly reduced HbA, increased HbA2 and greatly increased HbF –> major anaemia
Alpha thalassaemia:
- can be major/Hb Parts (x4 a-globin deletion) –> hydrops fetalis and death in utero
- HbH disease (x3 a-globin deletion –> mild-moderate anaemia with occasional transfusion dependency)
- alpha-thalassaemia trait (1-2 a-globin deletion –> asymptomatic w mild/no anaemia)
How may a child with sickle cell disease present?
Sx:
- Hand and foot syndrome (dactylitis) - painful and swollen hands and feet (earliest signs)
- Acute chest syndrome
- splenic sequestration (anaemia, shock, death)
- painful crises/vasoocclusive, stroke (+/- priapism)
- Infection (pneumococcus, parvovirus**)
- Splenomegaly (children only)
**Parvovirus B19 infection infects RBC precursors causing an aplastic anaemia (therefore reticulocyte counts will be LOW)
What is important to remember about the anaemia in SCD?
The anaemia in SCD is NOT due to haemolysis alone - the HbS is lower affinity and therefore releases O2 more readily to the tissues, thereby reducing the EPO-drive and causing anaemia
What investigations would you consider for a child with suspected SCD?
Ix:
- FBC
- Blood smear - sickle cells, Howell-Jolly bodies (hyposplenism), reticulocytes
- Family origins questionnaire (ethnicity)
- Solubility test (if cloudy, then do..)
- ELECTROPHORESIS (gold-standard) –> normal beta chain is very positive (glutamine) but defective (HbS is neutral, and HbC is negative)
also:
- Guthrie testing after antenatal screening)
How would you manage a patient with SCD? What is their prognosis?
Mx:
- Education - minimise exposure for crises triggers e.g. cold, dehydration, hypoxia, excessive exercise
- Vaccination against encapsulated organisms (pneumococcus and HiB)
- Prophylaxis with OD oral penicillin and folic acid (inc cell turnover)
- Treatment of acute crises = analgesia (avoid morphine <12y), hydration, antibiotics, oxygen and exchange transfusion (ACS, stroke, priapism)
- Treatment for chronic problems = hydroxycarbamide (for recurrent admission for ACS or vaso-occlusive crises) which stimulates HbF production but monitor for WBC suppression, HSCT in severe cases
Prognosis
- premature death due to complications - 50% with most severe SCD die <40y
How may a child with thalassaemia present?
B-thalassaemia major:
- Anaemia at 3-6m age –> HF, growth retardation
- Extramedullary haematopoesis –> bone expansion, hepatosplenomegaly, frontal bossing
- Iron overload –> HF, gonadal failure
B-thalassaemia trait:
- Asymptomatic
- Microcytosis (normal/low Hb)
How would you investigate a child with thalassaemia?
Ix:
- FOQ - indian, mediterranean/middle-eastern + Guthrie testing after ante-natal screening
- FBC
- Blood smear - microcytic RBCs, tear drop cells!!, target cells, shistocytes, reticulocytes/nucleated RBCs
- Hb electrophoresis (gold-standard)
- Imaging for EMH i.e. abdo USS and plain XRs
How would you manage a child with beta-thalassaemia?
Mx:
- Prenatal diagnosis ideally by FOQ and genetic inquiry
- B-major = blood transfusion +/- iron chelation with desferrioxamine/deferiprone OR HSCT, usually for children with HLA-identical sibling
- B-minor requires no treatment
What is haemolytic disease of the newborn (HDN) caused by?
Maternal Abs against foetal blood group antigens
- <2days old
- Anti-D, Anti-A/B, anti-Kell groups are important
- Mother is always Rh-, baby always Rh+
- Mothers Abs cross the placenta or mix at delivery and cause haemolysis
- Sensitise when mother-baby blood mixing at delivery (then these Abs may attack next Rh+ foetus)
How may HDN present?
Sx:
- Yellow amniotic fluid
- Hydrops fetalis (hepatosplenocardiomegaly)
- Pallor
Jaundice 24-36h after birth (within 2 days)
How would you manage (Ix+Mx) a child with HDN?
Ix:
- Coombe’s test (DAT) (+ve)
- Haemolysis shown by raised uBR and high reticulocytes
- Amniocentesis sample, USS for organomegaly
Mx:
- Prevention:
- ->
Treatment:
- -> Phototherapy and IVIG if Br is rising >8.5 umol/l/h
- -> Severe/in utero then transfusion with O, Rh- blood into umbilical vein and delivery at 37-38w
What is G6PDD and how does it present? What are some RFs/causative agents?
Glucose-6-phosphate dehydrogenase deficiency - rate limiting enzyme in the pentose-phosphate shunt which prevents oxidative damage to RBCs
- X-linked (affects males, homozygous females or ‘lionised’ females)
- 10-20% from central Africa, middle/Far East, mediterranean
- Causative drugs = antimalarials (i.e. quinine), antibiotics (i.. nitrofurantoin), analgesics (i.e. high-dose aspirin) and chemicals (fava beans, moth balls)
Sx:
- Neonatal jaundice (<3d of life) = most common cause requiring transfusion)
- Acute intravascular haemolysis when precipitated by infection/drugs/fava beans etc = fever, malaise, abdominal pain and dark urine
How would you investigate and manage G6PDD?
Ix:
- FBC
- Blood film shows Heinz bodies, bite cells
- G6PDD levels now and after 1 month (raised at time, reduced after)
Mx:
- Awareness of signs of acute haemolytic (dark urine, jaundice, pallor)
- Avoidance of agents (drugs/foods)
- Tx of acute haemolytic = supportive care + folic acid (rarely require blood transfusion)
What is Gaucher’s disease? What are some other defects?
Commonest lysosomal storage disease (subtype: sphingolipidosis)
–> Gaucher disease = Beta-glucosidase deficiency (n.b. Pompe’s disease = alpha glucosidase)
–> Fabry disease
= Alpha-galactosidase A defect
–> Niemann-Pick Disease type C
= Cholesterol trafficking disorder
–> Wolman disease
= Lysosomal acid lipase defect
- Autosomal recessive; 1:100 carriers and 1:40,000 affected
- Higher in Ashkenazi jews (1:10 carriers –> 1:500 births) - note: Tay-Sachs disease is hexosaminidase A deficiency where they are deaf, blind, progressive neuodegeneration and IBD
How does Gaucher’s present?
Sx:
Acute infantile form:
- Hepatosplenomegaly
- Neurological degeneration with seizures
Chronic childhood form (MOST COMMON):
- Hepatosplenomegaly
- BM suppression with anaemia
How would you Ix and Mx a child with Gaucher’s?
Ix:
- FBC and blood film
- LFTs and clotting
- USS of liver and spleen
- BM aspirate = Gaucher cells
Mx:
- Splenectomy
- Enzyme replacement (IV recombinant glucocerebrosidase)
- Bisphosphonates
- Anaemia treatment
What is galactosaemia? How does it present?
There are 3 forms, but the most common is galactose-1-phosphate uridyl transferase deficiency (Gal-1-PUT deficiency)
Sx:
- usually presents in neonates with raised cBR and hypoglycaemia
- raised cBR
- Hepatomegaly
- Hypoglycaemia
- Sepsis (gal-1-phos inhibits the immune response)
- If not picked up in infancy, can present with bilateral cataractsin early life
How would you Ix and Mx galactosaemia?
Ix:
- High galactose in urine
- Red cell Gal-1-PUT levels
Mx:
- Avoidance of galactose i.e. use of soya-protein formulation milk
What are some types of glycogen storage diseases?
- > Type 1 = von Gierke’s [glucose-6-phosphatase deficiency] - glucose can’t be liberated from G6P without the enzyme and cannot leave the cell
- > Type 2 = Pompe’s [alpha-glucosidase deficiency]
- > Type 3 = Cori’s / Forbe’s [amylo-1, 6-glucosidase deficiency]
-> Type 4 = Anderson’s
[1, 4-alpha-glucan branching enzyme deficiency]
-> Type 5 = McArdle’s [myophosphorylase deficiency] often have muscle cramps/weakness after first few minutes of exercise -> second wind of energy
What are some presenting symptoms and signs of glycogen storage diseases?
Sx:
- Hypoglycaemia - G6P can’t leave cells (hepatomegaly)
- Lactic acidosis - G6P builds up as lactate (nephromegaly)
- Neutropenia - G6P suppresses the immune system
How would you manage these patients with glycogen storage disorders?
Mx:
- Manage intake of carbohydrates carefully to avoid storage
- Pompe (T2 specific) = alpha-glucosidase injections -> it is both a lysosomal and GSD
What is the most common solid organ tumour of childhood and leading cause of childhood cancer deaths?
CNS tumours - majority (60%) infratentorial and primary in children
What are some common classifications/types of CNS tumours in children?
40% Astrocytoma (cerebellar) - benign->highly malignant, pliocytic astrocytomas are most common
20% medulloblastoma - associated spinal metastases, arise from midline posterior fossa
8% Ependymoma - posterior fossa
Others = brainstem glioma, craniopharyngoma, ATRT
What is a pliocytic astrocytoma? What does its MRI and histology show? What disease and mutation is associated with it?
WHO Grade I
- most common child brain tumour (20% of CNS tumours in those under 14y)
- common in NF1
- MRI shows cerebellar mass, well circumscribed, cystic and enhancing
- Histopathology shows PILOID (hairy) cells and ROSENTHAL fibres and granular bodies, slow growing with low mitotic activity
- 70% cases have a BRAF mutation
How may a child with a CNS tumour present?
Sx:
- Headaches, worse in the morning or when coughing
- Gait problems, coordination issues and clumsiness
- Visual changes
- Vomiting (on waking)
- Irritability
- Failure to thrive
- Behaviour/personality change
- Papilloedema due to increased ICP (exclude benign intracranial HTN as these pts have normal MRIs and examination, usually 14 with high BMI) -> do LP with manometry
**Focal signs depending on location i.e. seizures, personality if supratentorial; ataxia and CN palsies if infratentorial and headache/vomiting if intracranial
How would you Ix and Mx a patient with a suspected CNS tumour?
Ix:
-> MRI is better here, as CT/PET has higher radiation doses
Mx:
- > MDT approach = paediatrician, neurologist, SN, OT, PT, SALT, psychologist, oncologist, radiologist, CLIC sargeant (cancer and leukaemia social worker)
- > 1st line = surgery however depends on location, site and number of lesions - may be either a craniotomy (debulking, complete/subtotal resection), open biopsy (inoperable but approachable) or stereotactic biopsy (where open isn’t indicated)
- > Radiotherapy used for low and high grade gliomas, metastases
- > Chemotherapy used for high grade gliomas
What is the most common leukaemia in childhood (+ paediatric cancer overall) and who does it affect?
ALL (Acute lymphoblastic leukaemia) is the commonest in children = 80% (other 20% is AML or acute non-lymphocytic leukaemia e.g. transient abnormal myelopoeisis in Downs syndrome)
In ALL, 85% are B cell lineage and 15% is T cell lineage
Peak incidence is children aged 2-5y, more M>F
How does Leukaemia/ALL present?
Sx:
- BM Failure - anaemia, thrombocytopenia, neutropenia (increased infections, tiredness and pallor/SOB and bruising/epistaxis)
- Local infiltration - lymphadenopathy +/- thymic enlargement
- splenomegaly, hepatomegaly
- Sanctuary sites - testes, CNS (cannot be easily reached by chemotherapy)
- Petechial rash on face and trunk = leukaemia cutis
- Bone pain
- FEVER
How would you Ix a child with suspected ALL?
Ix:
- FBC -> anaemia, neutropenia, thrombocytopenia +/- DIC, may show tumour lysis syndrome (high K, LDH, PO4 and uric acid)
- Clotting studies
- Peripheral blood film -> lymphoblasts, Auer rod cells (AML)
- CXR -> enlarged thymus
- BM biopsy -> >20% blasts in BM or peripheral blood, and depending if T/B blast cell then different treatment + check immunological/prognostic markers
How would you manage a child with ALL?
Mx:
Specific therapy:
-> Systemic chemotherapy (2-3y = induction and consolidation) where boys treated longer due to testes being a site of accumulation for lymphoblasts
-> CNS directed therapy (intrathecal) - done in all patients even if initial LP is negative for 6-8 treatments (can also be done by giving high dose chemotherapy which penetrates the BBB)
-> Molecular treatment - Imatinib (TKI - given if Ph+) and Rituximab (anti-CD20 abs for B-cell depletion)
-> BM Transplant
++++ Supportive care (blood products, Abx, CVC, management of electrolytes)
note: If they have a high WCC then must act IMMEDIATELY to reduce TLS by giving allopurinol and hyperhydration
What are some facts about lymphoma in childhood?
In childhood, they may have Hodgkin’s or Non-Hodgkin’s (Burkitt’s)
- NHL more common in childhood
- HL more common in adolescence
- HL is usually more localised (just 1 nodal site)
- HL spreads contiguously to adjacent lymph nodes, NHL involves multiple sites and spreads sporadically
What are the types of HL that affect children, and how do they present?
HL:
- Classical = 95%
- Nodular lymphocyte predominant HL = 5%
Sx:
- Painless lymphadenopathy in neck
- B symptoms (fever, WL, night sweats)
- Painful on drinking alcohol (in 10%)
How would you Ix HL? What is the Ann Arbour staging?
Ix:
- Bloods (FBC, ESR, LFTs, LDH, Albumin) - prognostic markers
- LN biopsy (see Reed-Sternberg cells)
- PEDG-PET or CT scanning and Ann Arbor* staging
- Immunophenotyping (CD30, CD15 diagnostic markers)
Ann Arbor Staging: 1. 1 group of nodes affected 2. >1 group on same side of diaphragm 3. Nodes affected below and above the diaphragm 4. Extra nodal spread \+ an A if none below; + B if any of the Sx below: -> Fever -> Unexplained WL of >10% in 6m -> Night sweats
How would you manage a child with HL?
Mx:
-> Combination chemotherapy (ABVD) +/- radiotherapy
ABVD = adriamycin, bleomycin, vincristine and DTIC/Dacarbazine
-> PET scanning for monitoring response and guiding therapy
-> 80% cases cured, if disseminated then 60%
How may a child with NHL present? What are some common types/causes?
Sx:
- Painless lymphadenopathy +/- compression symptoms
- B symptoms (fever, WL, night sweats)
Common types = Diffuse large B cell (30-40%) and Follicular (35%)
Other rare causes are H.Pylori/MALT, EATL and HIV-associated
How would you Ix a patient with NHL?
Ix:
- Bloods (FBC, ESR, LFTs, Albumin, LDH) prognostic markers
- PDG-PET or CT scanning for Ann Arbor staging
- LN biopsy (cytology, immunophenotyping, histology)
How would you manage a patient with NHL?
Mx: (depends on the type of NHL)
- > Urgent chemotherapy
- > Monitor only (if less aggressive)
- > Antibiotics for MALToma/H. pylori
e. g. if diffuse large B cell NHL, then treated with 6-8 cycles of R-CHOP:
- Rituximab (to deplete B cells, anti-CD20)
- Cyclophosphamide
- Adriamycin (H)
- Vincrinstine (O)
- Prednisolone
Some also eligible for HSCT also
What is Burkitt’s lymphoma? Can you list 3 types?
Burkitt’s = a type of B-cell NHL, very (fastest) growing tumour, bad prognosis
- > Endemic = EBV infection, seen most commonly in children living in malaria endemic regions (chronic malaria may reduce EBV resistance) - most common childhood cancer in Africa. Involves JAW or facial bones
- > Sporadic - also associated with EBV infection but in the western world
- > Immunodeficiency - associated with HIV infection or post-transplant immunocompromised
What might you see on histopathology and molecular analysis of Burkitt’s tumour?
Histo = arises from germinal centre cells, ‘STARRY SKY’ appearance
Molecular - C-myc translocation (8;14, 2;8 or 8;22)
What is an osteosarcoma and who does it affect and where?
Most common primary bone malignancy of childhood (most common bone sarcoma)
- > Occurs at the end of long bones (60-75%) in the KNEE
- > M>F
- > 10-30yo, 75% above 20y
How may someone present with osteosarcoma?
sx:
- Relatively painless mass/swelling
- restricted movement
- rapid metastases to lung
What Ix would you do for suspected osteosarcoma?
Ix:
- XR - see soft tissue calcification (sunburst appearance) and elevated periosteum (Codman’s triangle)
- Biopsy
- CT/PET/MRI
How would you manage osteosarcoma? What is its prognosis?
Mx:
- > Specialised sarcoma team management (+ MDT)
- > Surgery (limb-sparing +/- amputation and chemotherapy)
- > Post-treatment - OT/PT/prosthetics/orthotics, support from sarcoma UK
Prognosis is poor (60% 5y survival)
What is Ewing’s sarcoma and who/how does it affect?
Ewings = primary neuroendocrine tumour (PNET), small round blue-cell tumour
- > <25y old (median 15y)
- > Long bones of arms, legs, chest, skull, trunk
- > Associated with t(11;22)
note: Osteosarcoma = bone, Ewing’s = mesenchymal (neuroectodermal)
How does Ewing’s present?
Sx:
- Mass/swelling and bone PAIN
- Malaise, fever, paralysis (may precipitate osteomyelitis)
How would you Ix Ewing’s?
Ix:
- > XR - see bone destruction with overlying onion-skin layers of periosteal bone formation
- Biopsy - see small round blue cells
- CT/PET/MRI
How would you manage Ewing’s?
Mx:
- Special sarcoma team
- Surgery (limb-sparing +/- amputation and chemotherapy AND radiotherapy)
- Post treatment MDT support
Prognosis - 75% 5y survival (20-40% if metastasis)
What is a retinoblastoma and how does it present?
Malignant tumour of retinal cells (rare) but accounts for 5% severe visual impairment in children
- > Unilateral (usually spontaneous) or bilateral (always hereditary)
- > Autosomal dominant, X13 which encodes protein retinoblastoma (pRB)
- > Median age of dx = 18m
Presents:
- > NEGATIVE red reflex (white pupil, not red)
- > Squint
How would you manage (Ix + Mx) suspected retinoblastoma?
Ix:
-> Ophthalmological EUA
-> MRI
[Biopsy not required, treatment based on ophthalmology findings]
Mx:
- Removal of eye, leaving the muscles (enucleation)
- Bilateral chemotherapy and laser treatment to retina (+/- chemotherapy)
- Most are cured, some may be vitally impaired (risk of sarcoma/secondary malignancy in survivors of hereditary retinoblastoma)
What is a neuroblastoma and who does it affect?
Tumour arising from the neural crest tissue in the adrenal medulla and SNS (most common extra-cranial tumour in children)
- Varies from benign (ganglioneuroma) to malignant (neuroblastoma)
- Commonly <5yo
- Prognosis from age and stage of disease i.e. >1yo and MYCN gene = poor prognosis
How does a neuroblastoma present?
Sx:
- Abdominal distension and mass, anywhere on sympathetic chain
- Systemic symptoms (WL, hepatomegaly, bone pain, pallor, limp)
- Sx of spinal cord compression
- Over 2y –> metastatic disease symptoms i.e. bone pain, BM suppression, WL, malaise
How would you Ix a neuroblastoma?
Ix:
- Raised urinary catecholamines
- Imaging (USS/CT/MRI)
- Confirmatory biopsy from site/BM for staging
How would you manage a neuroblastoma?
Mx:
- Very young infants can sometimes have spontaneous regression
- Localised primary tumour without metastases = surgery alone
- Metastatic disease = chemotherapy + radiotherapy (+ autologous stem cell rescue) + surgery (high risk of relapse)
Cure rates for metastatic disease = 40%
