PAEDS - ONCOLOGY / HAEMATOLOGY Flashcards

Question

AML What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?

Answer 1

FBC = anaemia and thrombocytopenia and neutropenia BM biopsy = leukaemic blast cells (with Auer rods)

Answer 2

Blood and platelet transfusions IV fluids Allopurinol to prevent tumour lysis Infection control with IV antibiotics Chemotherapy Steroids Sibling matched allogenic bone marrow transplant

Answer 3

Uncontrolled clonal proliferation of myeloid cells (basophils, eosinophils and neutrophils)

Answer 4

Philadelphia chromosome forms a fusion gene BCR/ABL on chromosome 22 – has tyrosine kinase activity – simulate cell division

Answer 5

Insidious onset Symptomatic anaemia Abdominal pain - splenomegaly Weight loss, tiredness, palor Gout - due to purine breakdown Bleeding - due to platelet dysfunction

Answer 6

FBC - anaemia, raised myeloid cells, high WCC (eosinophilia, basophilia, neutrophilia) Increased B12 Blood film - left shirt, basophilia Bone marrow biopsy - increased cellularity Philadelphia chromosome seen in 80+% of cases  t(9;2) - Stimulates cell division

Answer 7

Chemotherapy Tyrosine kinase inhibitors, e.g. Imatinib - Given orally Stem cell transplant

Answer 8

FORMS fusion gene BCR/ABL on chromosome 22 –> tyrosine kinase activity –> stimulates cell division

Answer 9

Proliferation of mature B lymphocytes leads to accumulation of mature B cells that have escaped apoptosis Chronic malignant transformation of mature lymphoid cells

Answer 10

● Normal or low Hb ● Raised WCC with very high lymphocytes ● Blood film – smudge cells may be seen in vitro

Answer 11

Watch and wait Chemotherapy Monoclonal antibodies, e.g. rituximab Targeted therapy, e.g. bruton kinase inhibitors (ibrutinib)

Answer 12

- Malignancies of lymphocytes which accumulate in lymph nodes, may also infiltrate organs + divided histologically

Answer 13

- Hodgkin's lymphoma (more common in adolescence) - Non-Hodgkin's (more common in childhood)

Answer 14

- Mostly self-limiting like viral URTI (cold, tonsillitis) - Can be HIV, autoimmune or malignancies - Enlarging node without infective cause, persistently enlarged, unusual site (supraclavicular), presence of B Sx or abnormal CXR

Answer 15

Fever and sweating Enlarged rubbery non-tender nodes Systemic ‘B’ symptoms, e.g. fever Painful nodes on drinking alcohol some patients (commonly young women) have disease localised to the mediastinum

Answer 16

Presence of Reed-Sternberg cells in lymph node biopsy

Answer 17

- high ESR - FBC = anaemia (normochromic normocytic) - reed sternberg cells - low Hb - high serum lactase dehydrogenase

Answer 18

Using the Ann Arbor system - I = confined to single LN region - II = ≥2 nodal areas on same side of diaphragm - III = nodal areas on both sides of diaphragm - IV = spread beyond LNs e.g. liver - Each staged subdivided to A if no systemic Sx or B if 'B' Sx

Answer 19

- Combination chemo ± radiotherapy (overall 80% cured) - ABVD - Adriamycin - Bleomycin - Vinblastine - Decarbazine - autologous marrow transplant

Answer 20

Any lymphoma not involving Reed-Sternberg cells

Answer 21

- T-cell malignancies - B-cell malignancies - Extra-nodal disease

Answer 22

- May present as ALL or non-Hodgkin lymphoma both being characterised by a mediastinal mass with bone marrow infiltration - Mediastinal mass may cause SVC obstruction

Answer 23

- Present as non-Hodgkin lymphoma with localised lymph node disease, usually in head + neck or abdomen

Answer 24

- Often GI > pain from obstruction, a palpable mass or even intussusception

Answer 25

Fever and sweating Enlarged rubbery non-tender nodes Systemic ‘B’ symptoms, e.g. fever GI and skin involvement

Answer 26

Steroids R-CHOP - Monoclonal antibodies to CD20 -> Rituximab - CHOP regimen: - Cyclophosphamide - Hydroxy-daunorubicin - Vincristine - Prednisolone

Answer 27

- Almost always primary (unlike adults) - 60% are infratentorial

Answer 28

- Astrocytoma (#1) varies from benign to glioblastoma multiforme - Medulloblastoma arises in the midline of posterior fossa, may have spinal mets - Ependymoma mostly in posterior fossa where it behaves as medulloblastoma - Brainstem glioma - Craniopharyngioma

Answer 29

- Developmental tumour arising from squamous remnant of Rathke pouch - Not truly malignant but locally invasive (bitemporal hemianopia often lower quadrant as superior chiasmal compression)

Answer 30

- Evidence of raised ICP - Focal neurology dependant on where the lesion is

Answer 31

- Headache worse in morning - Papilloedema - Vomiting, esp. in the morning - Behaviour or personality change - Visual disturbance (squint secondary to 6th nerve palsy, nystagmus)

Answer 32

- Spinal tumours = back pain, peripheral weakness of arms/legs or bladder + bowel dysfunction depending on level of lesion - Ataxia, seizures

Answer 33

- MRI for visualisation - Avoid LP if raised ICP

Answer 34

- Outcome depends on location, how much is cleared + how much healthy brain tissue removed - Survivors face neuro disability, growth + endocrine problems, neuropsychological issues

Answer 35

- 1st line = surgical resection + ventriculoperitoneal shunt to reduce risk of coning + treat hydrocephalus - Chemo (fewer options as less drugs cross BBB) or radiotherapy

Answer 36

- Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system, - most common <5y, - NOT brain tumour

Answer 37

Mass anywhere along sympathetic chain so could lead to spinal cord compression

Answer 38

- Spontaneous regression sometimes occur in v young infants - Spectrum from benign (ganglioneuroma) to highly malignant neuroblastoma

Answer 39

- Abdominal mass - Sx of metastatic = weight loss, hepatomegaly, pallor, bone pain + limp - Uncommon = paraplegia, cervical lymphadenopathy, proptosis, periorbital bruising, skin nodules

Answer 40

- Often crosses midline + envelopes major vessels + lymph nodes - Can grow very large - Classically abdo primary is of adrenal origin

Answer 41

- Raised urinary catecholamine levels - CT/MRI + confirmatory biopsy - Evidence of metastatic disease = bone marrow sampling, MIBG scan ± bone scan

Answer 42

- Localised primaries + no mets can often be cured with surgery - Metastatic = chemo, autologous stem cell rescue, surgery + radio - Immunotherapy may be used for long-term maintenance

Answer 43

- Nephroblastoma that originates from embryonal renal tissue, cure rate 80% - >80% present before age 5, rare after 10y - FHx = Wilm's tumour susceptibility gene

Answer 44

- Large abdominal mass found incidentally in an otherwise well child - May have flank pain, anorexia, anaemia, painless haematuria + HTN

Answer 45

- USS ± CT/MRI showing intrinsic renal mass distorting the normal structure - Mass with characteristic mixed tissue densities (cystic + solid) - Staging for distant mets (often lung), biopsy for histology Dx

Answer 46

- Initial chemo followed by delayed nephrectomy (full if 1 kidney, partial if bilateral but RARE) - Radiotherapy for more advanced disease

Answer 47

- Osteogenic sarcoma more common than Ewing sarcoma but Ewing seen more in younger children - Both have male predominance - Uncommon before puberty

Answer 48

- Limbs most common site (particularly femur, tibia + humerus) - Persistent localised bone pain often precedes mass, otherwise well - May be worse at night + cause disrupted sleep

Answer 49

- Raised ALP on bloods - Plain XR followed by MRI + bone scan, ?PET scan + bone biopsy - CT chest for lung mets + bone marrow sampling to exclude involvement

Answer 50

- XR = destruction + variable periosteal new bone formation - Periosteal reaction leads to classic "sunburst" appearance - Ewing sarcoma often shows substantial soft tissue mass

Answer 51

- Combo chemo before surgery (amputation avoided if possible) - Radio used in Ewing sarcoma for local disease, esp. if surgical resection is impossible or incomplete (e.g. pelvis or axial skeleton)

Answer 52

- Malignant tumour of retinal cells which can lead to severe visual impairment

Answer 53

- Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening - All bilateral tumours are hereditary, 20% of unilateral are

Answer 54

- White pupillary reflex noted to replace the normal red reflex or a squint - May have decreased visual acuity + nystagmus - Most present within 3y

Answer 55

- Screened for in NIPE - MRI + Examination under anaesthetic - Biopsy is avoided + treatment based on ophthalmological findings

Answer 56

- Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma

Answer 57

- Cure cancer + preserve vision - Chemo, particularly if bilateral to shrink tumours > local laser treatment to retina - Radiotherapy or enucleation of eye (removal) if advanced - Most cured but many visually impaired

Answer 58

- Mostly hepatoblastoma or hepatocellular carcinoma - Primary liver tumours in neonates = haemangioma

Answer 59

- Abdominal distension or mass are common - Pain + jaundice rare

Answer 60

- Elevated serum alpha fetoprotein in nearly all cases - USS/CT/MRI to visualise the tumour + extent of disease

Answer 61

- Chemo, surgery or liver transplant if inoperable - Majority of hepatoblastoma can be cured but prognosis worse for hepatocellular

Answer 62

- Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in... – Type 2 (proximal) renal tubular acidosis – Polydipsia, polyuria, aminoaciduria + glycosuria – Osteomalacia/rickets

Answer 63

- Usually secondary to inborn errors of metabolism – Cystinosis (AR > intracellular accumulation of cysteine, most common) – Wilson's disease, galactosaemia, glycogen storage disorders

Answer 64

- Responsible for transporting oxygen around the body in RBCs - HbF = 2 alpha + 2 gamma subunits - HbA = 2 alpha + 2 beta subunits

Answer 65

- HbF has greater affinity to oxygen than adult so oxygen binds more easily + is more reluctant to let go = crucial for oxygen to transport from maternal to foetal Hb

Answer 66

HbF production decreases from 32w with HbA + HbA2 production increasing

Answer 67

- At birth to compensate for low oxygen concentration in the foetus - By 6m of age very little HbF produced so HbA predominates

Answer 68

- Hb level below the normal range - Neonate = <14g/dL - 1–12m = <10g/dL - 1–12y = <11g/dL

Answer 69

- Increased red cell production - Increased red cell destruction (haemolysis) - Blood loss (uncommon in paeds like Meckel's, vWD, foetomaternal bleeding)

Answer 70

- Ineffective erythropoiesis (Fe, folate deficiency, CKD) - Red cell aplasia - Normal reticulocytes, abnormal MCV in nutrient deficiencies

Answer 71

- G6PD deficiency, haemoglobinopathies, hereditary spherocytosis - Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause

Answer 72

- Characterised by reduced red cell lifespan due to increased red cell destruction in the circulation (intravascular haemolysis) or liver/spleen (extravascular) - 120d

Answer 73

- Red cell survival reduced significantly but bone marrow production increases too, anaemia = bone marrow cannot compensate - Neonates = immune haemolytic anaemias, children = instrinsic abnormalities (G6PD)

Answer 74

- Anaemia - Hepatosplenomegaly - Unconjugated bilirubinaemia - Excess urinary urobilinogen

Answer 75

- Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia - Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)

Answer 76

- Inadequate erythropoietin production - Reduced red cell lifespan - Frequent blood sampling whilst in hospital - Iron + folic acid deficiency after 2-3m.

Answer 77

- #1 cause of childhood anaemia - Bone marrow requires iron to produce Hb - Iron mainly absorbed in the duodenum + jejunum + requires acid from the stomach to keep iron in soluble ferrous (Fe2+) form, if acid drops it changes to insoluble ferric (Fe3+) form

Answer 78

- Inadequate intake = common as infants require additional iron for increasing blood volume - Malabsorption = Crohn's + coeliac - Blood loss = common in menstruating females

Answer 79

- Breast milk, formula, cow's milk or weaning (cereals) - Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea

Answer 80

- Generic = fatigue, SOB, headaches, dizziness, palpitations - Young infants feed more slowly + children tire easily

Answer 81

- Generic = pallor (inc. conjunctival), tachycardia, tachypnoea - Pica = consumption of non-food materials - Koilonychia, angular cheilitis, brittle hair + nails

Answer 82

- FBC = low Hb, microcytic (low MCV + MCH), normal reticulocytes - Blood film = hypochromic microcytic red cells - Iron studies: – Low = serum ferritin, iron + transferrin saturation – High = total iron binding capacity

Answer 83

i) Proportion of transferrin bound to iron ii) Total space on transferrin for Fe to bind

Answer 84

- Diet = eat red meat (beef, lamb), oily fish, green veg (broccoli, spinach), dried fruit (raisins) - Children may be given polysaccharide iron complex (Niferex) - Ferrous sulfate or fumarate often used

Answer 85

- Constipation - Black coloured stools - Nausea

Answer 86

- Abnormal variant (haemoglobin S) which polymerises to be an abnormal sickle (crescent) shape + so more fragile + easily destroyed > haemolytic anaemia - Amino acid substitution (glutamine > valine)

Answer 87

- Reduced lifespan so can get trapped in small vessels leading to vaso-occlusion > ischaemia - Can be exacerbated by dehydration, cold, stress, infections + hypoxia, associated with raised haematocrit

Answer 88

- Autosomal recessive - Abnormal gene for beta-globin on C11 - Heterozygous = sickle-cell trait - Homozygous = sickle cell disease (HbSS)

Answer 89

- More common in Africa, India + the Middle East (areas traditionally affected by malaria) - Sickle-cell trait reduces the severity of malaria making them more likely to survive + pass the genes on

Answer 90

- 6m as HbF unaffected so manifests as HbF reduces - All have moderate anaemia with detectable jaundice from chronic haemolysis - All have marked increase in infection susceptibility, esp. pneumococci + H. influenzae due to hyposplenism secondary to chronic sickling + microinfarction of the spleen

Answer 91

- Vaso-occlusive (painful) crises - Bones of limbs + spine common (may lead to avascular necrosis e.g. femoral heads) - Pain, fever + often those of triggering infection - Acute chest syndrome

Answer 92

- Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR - Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli) - Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation

Answer 93

- 'Hand-foot syndrome' common leading to dactylitis - Priapism in men > urological emergency, aspiration

Answer 94

- Haemolytic crises (sometimes with associated infection) - Aplastic crises (parvovirus causes cessation of RBC production) - Sequestration crises

Answer 95

- Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow - Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility

Answer 96

- Prenatal Dx via CVS - Detection via Guthrie test - FBC = low Hb, high reticulocytes - Blood film = sickled RBCs - Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA

Answer 97

- Short stature + delayed puberty - Stroke + cognitive issues - Pulmonary HTN - Chronic renal failure - Psychosocial issues

Answer 98

- Fully immunised (PCV, HiB, meningococcus) - Avoid vaso-occlusive crisis triggers - PO phenoxymethylpenicillin prophylaxis - PO folic acid as increased demands due to haemolysis - Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises - Bone marrow transplant curative + offered if failed response

Answer 99

- Cold, dehydration, excessive exercise, stress + hypoxia - Dress warmly, plenty of drinks

Answer 100

- PO or IV analgesia according to need (?opiates) - IV fluids, oxygen - Infection treated with Abx, blood transfusion for severe anaemia - Exchange transfusion if severe (e.g. neuro complications)

Answer 101

- AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains - RBCs more fragile + breakdown easily - Alpha = defect in alpha globin chains - Beta = defect in beta globin chains

Answer 102

- Alpha thalassaemia trait - Often asymptomatic with mild or absent anaemia - Red cells hypochromic + microcytic

Answer 103

- Mild-moderate hypochromic microcytic anaemia + splenomegaly - Few patients are transfusion dependent

Answer 104

- Alpha thalassaemia major - Death in utero with foetal hydrops from foetal anaemia - Occurs in families of South-East Asian origin, homozygotes

Answer 105

- Indian subcontinent, Mediterranean + Middle East - Beta thalassaemia minor (1 abnormal + 1 normal gene) - Beta thalassaemia intermedia (2 defective or 1 defective + 1 deletion genes) - Beta thalassaemia major (homozygous for deletion genes)

Answer 106

- Carriers of abnormally functioning beta-globin gene - Mild microcytic + hypochromic anaemia (monitor) - Differentiate from Fe deficiency by measuring serum ferritin (normal)

Answer 107

- More severe microcytic anaemia, beta-globin mutation allow a small amount of HbA and/or a large amount of HbF to be produced - Monitor + occasional blood transfusion

Answer 108

- Most severe form with no HbA as abnormal beta globin gene - - Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive

Answer 109

- Extramedullary haematopoiesis can occur if no regular blood transfusions - Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing

Answer 110

- FBC + blood film = hypochromic microcytic anaemia - HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major - Serum ferritin to differ between Fe anaemia + check iron overload - Hb electrophoresis for Dx - DNA testing via CVS before birth

Answer 111

- Repeated + Regular blood transfusions can cause chronic iron overload - Heart (cardiomyopathy, heart failure) - Liver (cirrhosis) - Pancreas (diabetes) - Pituitary (delayed growth + sexual maturation) - Skin (hyperpigmentation) - Arthritis + joint pain

Answer 112

- Lifelong monthly blood transfusions for the most severe cases - Desferrioxamine for iron chelation to prevent overload - Bone marrow transplant can be curative, reserved for beta thalassaemia major

Answer 113

- Haemophilia A = factor VIII deficiency - Haemophilia B = factor IX deficiency - X-linked recessive (M>F), A>B, girls with Turner's increased risk as 1 X

Answer 114

- Neonates = intracranial haemorrhage, haematomas + cord bleeding - Recurrent spontaneous bleeds, often large, into joints (haemoarthrosis) + muscles (cause arthropathy if not prevented) - Easy bruising, haematomas, mouth/gum bleeding, haematuria

Answer 115

- Around 1y as children become more mobile - NAI

Answer 116

- FBC + blood film - Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal - Activated partial thromboplastin time (intrinsic) = greatly increased - Severity dependent on amount of FVIII:C or FIX:C levels - Prenatal Dx with CVS

Answer 117

- IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk) - Desmopressin stimulates vWF release for bleeding/prevention, TXA - AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)

Answer 118

- Formation of antibodies against the clotting factor can render it ineffective

Answer 119

- Facilitates platelet adhesion to damaged endothelium - Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance

Answer 120

- Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder - AD, type 1 most common + mildest - Severity increases with type 2, type 3 has very low or no vWF (AR)

Answer 121

- Bruising, excessive + prolonged bleeding after surgery, mucosal bleeding (epistaxis, menorrhagia, bleeding gums) - In contrast to haemophilia = spontaneous soft tissue bleeding like large haematomas uncommon

Answer 122

- FBC (normal platelets) + blood film, biochemical screen including renal + liver function - Prolonged bleeding time - Prothrombin time normal - APTT = elevated or normal - vWF antigen decreased, vWF multimers variable

Answer 123

- Pressure applied if active bleeding - Minimise bleeding with desmopressin or TXA - Severe = plasma derived FVIII concentrate or vWF infusion - AVOID aspirin, NSAIDs + IM injections as can worsen bleeding

Answer 124

- Nasal or s/c - Release of vWF + FVIII concentrate

Answer 125

Secondary to - Haemorrhagic disease of the newborn due to vitamin K deficiency - Liver disease as location of clotting factor production - ITP + DIC

Answer 126

- Essential for factors 2, 7, 9 + 10 (1972) production + naturally occurring anticoagulants like protein C + S - Prolonged prothrombin time so increased bleeding - All neonates get vitamin K IM to facilitate coagulation

Answer 127

- Inadequate intake = neonates, long-term chronic illness - Malabsorption = coeliac, cystic fibrosis - Vitamin K antagonists = warfarin

Answer 128

- Commonest cause of thrombocytopenia in childhood - T2 hypersensitivity reaction with destruction of circulating platelets by anti-platelet IgGs

Answer 129

- 1-2w post viral - Petechiae or purpuric rash (petechiae are pin-prick, purpura are larger) - Can cause epistaxis, other mucosal bleeding + bruising

Answer 130

- FBC shows marked thrombocytopenia - May have compensatory megakaryocyte increase in bone marrow

Answer 131

- Often acute + self-limiting - Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions

Answer 132

- rhesus positive father and negative mother have a rhesus positive baby - mother + baby have incompatible antigens which induces primary immune response - problems tend to occur in subsequent pregnancies + results in destruction of foetal haemoglobin

Answer 133

- anti-D antibodies in mother detected by Coombe's test that all women have at 1st antenatal appointment - routine USS may detect hydrops fetalis or polyhydramnios - mild cases = jaundice, pallor + hepatosplenomegaly, hypoglycaemia - severe cases = oedema, petechiae + ascites

Answer 134

- indirect coombe's test show antibodies - antenatal USS shows hydrops fetalis - fetal blood sample

Answer 135

- transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks

Answer 136

50% = normal haemoglobin + bilirubin but should be monitored for anaemia for 6-8 weeks 25% = require transfusion + may require phototherapy to avoid kernicterus 25% = stillborn or have hydrops fetalis

Answer 137

- kernicterus which can cause extrapyramidal, auditory and visual abnormalities and cognitive deficit - late-onset anaemia - graft-versus-host disease - portal vein thrombosis + portal hypertension

Answer 138

identify all women who have been sensitised by coombe's testing at first antenatal visit anti-D immunoglobulin should be given to all rhesus negative women at 28 + 34 weeks