Heme/Onc Flashcards
Onion peel - destruction of bone and concentric layers of subperiosteal new bone. Malignancy?
Ewings Sarcoma
Where is Ewings sarcoma typically located?
Diaphysis (common in shaft of femur, tibia or humerus)
Evidence of new bone formation under the corners and well marked radiating spicules of new new bone within the tumor
Osteogenic Sarcoma (classically “sunburst” appearance)
“Soap bubble” appearance with min or no sclerosis
Osteoclastoma
When does sickle cell disease typically first present and with what?
Around 6 months of age with dactylitis
Note: they overall typically have short stature
Male child with a unilateral testicular swelling, what is the most likely malignancy?
Leukaemia - rare presentation of acute leukaemia in boys. 10 - 30% of boys have testicular involvement at diagnosis. Other areas outside of marrow are CNS and then even more rarely the eye and kidneys
What type of anaemia is seen in chronic lead poisoning? What are other classic features?
Microcytic anaemia
Other features: developmental delay, constipation, emesis
Treatment of chronic lead poisoning?
Removing source + chelation
Mild: oral D-penicillamine
Severe: IV EDTA
Very severe: IM injections of dimercaprol (to increase effect of EDTA) + IV EDTA
Xray features of Langerhans cell histiocytosis
Osteolytic lesions often in skull, long bones, spine and pelvis
Beta-thalassaemia features on exam?
Frontal bossing, hepatosplenomegaly. Does not present until 1 yr old or older
What coag value is abnormal in Haemophilia A
Elevated aPTT (plts, PT and fibrinogen are normal)
Note: factor VIII def; haemophilia B is factor IX
What is the inheritance of G6PD deficiency?
X linked recessive (affects homozygous females and hertozygous males)
4 clinical syndromes in G6PD
- Drug sensitivity haemolytic anaemia
- Favism (ingestion of beans or inhalation of pollen)
- Neonatal jaundice
- Congenital non spherocytic haemolytic anaemia
How does Leydig cell tumour usually present?
Early puberty in males
Occasionally testicular mass or nodule
Note: 75% of cases are benign
Criteria for admission in a patient with ITP? Outpatient management plan?
Admission and active treatment if mucosal bleeding (lips, tongue, gum, urine or bowel) - if mucosal bleeding there may be an increased risk of intracranial bleeding
Outpatient: daily review and FBC
Urinary catecholamines (VMA or HVA) are elevated in the majority of cases of neuroblastoma T/F
T
All children with ALL are treated with intrathecal MTX T/F
T - this is to reduce the risk of CNS disese
Classification of haemophilia?
By % factor deficiency
Mild: > 5% of 35% of normal
Mod: 1% to 5% of normal
Severe: 0%
What is the most life saving intervention in the mgmt of acute chest in sickle cell disease?
Oxygen
Where does medulloblastoma usually occur?
Cerebellum - usually vermis and sometimes hemispheres
Note: Usually seen in males 5-7 yrs
Chronic leg ulceration is common in what anaemia?
Sickle cell anaemia
In the prognosis of neuroblastoma what age differenciates?
>18 months old has worse prognosis
N myc amplification is assoc with a poor prognosis in neuroblastoma T/F
T - particularly poor prognosis and rapid progression
Most common cause of aplastic crisis in a pt with HbSS
Pavovirus B19 infectuib
In sickle cell disease which patients are more susceptible to more severe retinal disease?
HbSC (compared to HbSS)
Bleeding time is increased in haemophilia and VonWB. T/F
F - normal in haemophilia A and increased in B and in VonWB
Fever is common at presentation in osteosarcoma T/F
F - fever is common at presentation in Ewings sarcoma
What is the most common cause of pancreatitic insufficiency after CF?
Schwachman-Diamond Syndrome
Note: this is the 3rd most common cause of congenital bone barrow failure after Fanconi and Diamond-Blackfan anaemia. But this two do not cause panceatitic insufficiency
What lab value is low in tumor lysis syndrome?
Calcium
Note: other abnormalities are high - k, phos and uric acid
Male sex is a good prognostic sign for ALL T/F
F - female sex is a good prognostic sign
Other good prognostic signs: age > 2 yrs at presentation; normal WBC; normal chest xray; common cell type, hyperdiploid karotype
Petechiae is common manifestation of haemophilia T/F
F - petechiae are a feature of platelet disorders and haemophilia is a factor disorder
Factor 8 inhibitors occur in about 20% of patients with haemophilia reciveing multiple factor 8 transfusions T/F
T
What % of Wilms tumor are bilateral?
10%
What is the most common presentation of Wilms tumor?
Abdominal mass
Note: 30-40% may have pain ; they may also have hypertension, haematuria, anaemia and fever secondary to tumor necrosis
Fanconi anaemia is assoc with what malignancies and MSK features?
AML and solid tumors (esp head and neck and gynae)
MSK: triangular shaped head, radius and thumb dysplasia/aplasia
Note: other features - deafness, aplastic anaemia, cardiac issues, GI and kidney malformations, hypogonadism
What is the inheritance of G6PD deficiency?
X linked
T cell phenotype is a poor prognostic feature in ALL T/F
T
Other poor prognostic features: CNS disease, male sex, age < 2, Philadelphia chromosome, WBC > 50
What is Evans syndrome?
ITP and autoimmune haemolytic anaemia
When are steroids indicated in the treatment of ITP?
If platelets < 30 x10 or < 50 + bleeding
Note: if > 30 and no bleeding just frequent monitoring; high dose immunoglobulin may also be used
Pulmonary hypertension is a complication of what haem disorders?
Haemolytic anaemia including sickle cell anaemia
Decreased platelet activation to ristocetin is classically seen in what disease?
Von Willebrand’s disease
Note: factor VIII is carried by VBW factor and so hence it is also redcued
Bleeding time is increased in which haemophilia?
Haemophilia B (factor IX)
Characteristic blood film findings in Bernard-Soulier disease
Giant platelets and thrombocytopenia
Note: caused by deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor.
How is TRK levels related to prognosis of neuroblastoma?
High TRK gene levels are associated with a better prognosis
Raised LDH, neurone specific enolase and ferritin as associated with a better or worse prognsosis in neuroblastoma?
Worse prognosis
Abnormalities on what Chr are associated with Wilms tumor?
Microdelations on short arm of chr 11
(eg Beckwith Wiedmann and WAGR syndrome)
Long term use of heparin can lead to what MSK side effect?
Osteoporosis
What adjustment needs to be made to vaccination when a patient is on warfarin?
Give vaccines subQ instead of IM to decrease bleeding
What nail finding is characteristic of Fe deficiency anaemia and rarely seen in other forms of anaemia?
Koilonycia (spoon shaped nailed)
Splenomegaly is found in about 25% of cases of Fe deficiency anaemia T/F
F - mild splenomegaly seen in about 10%
Which is more common in children Hodgkin’s or non Hodgkin’s lymphoma?
Hodgkins
Features to help differenciate Wilms tumor from neuroblastoma?
Wilm tumor (nephroblastoma) : appear well, no irritability or signs of bone marrow infiltration
Neuroblastoma: unwell, irritable, often presents late with metastatic disease esp to bone and can have anaemia secondary to bone marrow infiltration. May have metabolic effects from catecholamines
What is the mechanism of action of LWMH?
Accelerates antithrombin dependent inactivation of factor Xa
It does this by binding to antithrombin causing a conformational change.
Typical lab findings in DIC
Elevated d dimer
Decreased plts and fibrinogen
Elevated or normal PT/aPTT
Compare typical presentation and age for Hodgkin’s vs non Hodgkin’s lymphoma?
Hodgkins’s: slow growing painless lymphadenopathy, typically teenage or young adult
Non Hodgkin’s: rapidly enlarging LN mass, often unwell and high risk for tumor lysis, peak 7-10 years
What is the most common site of non Hodgkin’s lymphoma?
Abdomen
What is the most important prognostic marker in AML?
Bone marrow karyotype
t(8,21) or chr 16 inversion = low risk relapse
Changes in chr 3,5, or 7 = high risk of relapse
A patient who presents with a PE and is unable to become therapeutic on heparin infusion is suggestive of what disorder?
Antithrombin III deficiency
Antithombin is a natural anticoagulant –> deficiency lead to emboli
Furthermore heparin relies on an adequate level of antithrombin to be effective
What monoclonal antibodies can be used in the treatment of resistent ITP? What screening needs to be done prior to initiation?
Rituximab
Hep B screening
4 classic symptoms of a phaechromocytoma
Severe HTN
Headaches
Palpitations
Diaphoresis
