Haematology/Oncology Flashcards
Which type of cancer is related to Down syndrome?
Leukaemia
What type of cancer is associated with neurofibromatosis?
Glioma
Which cancers are associated with EBV infection?
Burkitt lymphoma
Hodgkin lymphoma
Nasophargyngeal carcinoma
What type of cancer is HepB infection associated with?
Liver carcinoma
Which immunotherapeutic agent is used for Ph+ve ALL and CML?
Imatinib
What type of infection is Kaposi sarcoma associated with?
HIV
HHV8
What does imatinib work on to provide cancer growth inhibition?
Tyrosine kinase
Which gene mutation causes Philadelphia +ve ALL and CML
BCR-ABL fusion gene
What is the significant side effect associated with vincristine?
Neuropathy
What are the symptoms of bone marrow infiltration assoc. with ALL?
Anaemia - pallor, lethargy
Neutropenia - infections
Thrombocytopenia - bruising, petechiae, nosebleeds
Bone pain
What are the genital symptoms of ALL?
Testicular enlargement
Which monoclonal antibody is anti-CD20 ?
Rituximab
What is the significant side effect associated with doxorubicin?
Cardiotoxicity
What is the peak age of presentation of ALL?
2-5years
What is the significant side effect associated with cisplatin?
Renal toxicity
What is the significant side effect associated with cyclophosphamide?
Haemorrhagic cystitis
What % of childhood leukaemias does ALL represent?
80%
What are the signs of CNS involvement in ALL?
Headaches
Vomiting
Nerve palsies
What are the general symptoms assoc. with ALL?
Malaise
Anorexia
Other than FBC and bone marrow, what other investigations should be ordered in ALL?
CXR
LP - identifies CNS disease
Clotting
What is the remission rate in ALL following induction chemotherapy?
95%
What are the signs of reticuloendothelial infiltration in ALL?
Hepatosplenomegaly
Lymphadenopathy
Superior mediastinal obstruction
What are poor prognostic factors in ALL?
Age <1 or >10
WCC >50
MLL rearrangement or t(4;11) hypodiploidy
Persistence of blast in bone marrow after initial chemo regime
MRD +ve after induction therapy
Which immunological phenotype is most common in ALL?
B-cell ALL (75%)
What are the typical FBC findings in ALL?
Low Hb
Low PLTs
Evidence of circulating blast cells
What is given prior to chemo in ALL to prevent TLS?
Additional Iv hydration
Allopurinol
What type of sample is essential for diagnosis and prognosis/treatment planning of ALL?
Bone marrow
What treatment options are considered for relapse of ALL?
High dose chemo
Whole body irradiation
Bone marrow transplant
What is the most common type of brain tumour in children?
Astrocytoma
What is a highly malignant astrocytoma called?
Glioblastoma
Which medication is given to ALL patients to prevent PCP?
Co-trimoxazole
Where do medulloblastoma tumours arise in the brain?
Midline of posterior fossa
What percentage of medulloblastoma have spinal mets at diagnosis?
20%
Where do ependymomas typically originate?
4th ventricle
May occur anywhere is CSF spaces
Where do craniopharyngeomas typically originate?
Squamous remnant of the Rathke pouch
How do brain tumours typically present in older children and adolescents?
Persistent or recurrent headaches
Blurred or double vision
Lethargy
Deteriorating school performance
Delayed or arrested puberty
How do brain tumours typically present in infants?
Developmental delay/regression
Progressive increase in HC
Lethargy
How would a tumour in the supratentorial cortex typically present?
Seizures
Hemiplegia
Focal neurological signs
Aggressive behaviour at school
Headaches
What is the likely diagnosis of a tumour located in the supratentorial cortex?
Astrocytoma - glioblastoma multiforme
What is the typical management of a tumour in the supratentorial cortex e.g glioblastoma multiforme?
Surgery, XRT +/- chemo
What is the prognosis of a supratentorial cortex tumour?
Poor
Typically <30%
Where are astrocytomas typically found?
Cerebral hemispheres
Thalamus
Hypothalamus
How do midline tumours typically present?
Visual field loss (bitemporal hemianopia)
Pituitary failure (growth failure)
DI
Increased weight
Headaches
Vomiting
What would be the typical diagnosis of a midline tumour?
Craniopharyngeoma
How is a cranipharyngeoma managed?
Surgical excision
+/- XRT
What is the long term prognosis of craniopharyngeoma?
Good survival
Risk of long term visual impairment and pituitary insufficiency
How do tumours of the cerebellum and 4th ventricle present?
Truncal ataxia
Coordination difficulties
Abnormal eye movements
Vomiting in the mornings
New-onset converging squint
What is the usual diagnosis of a cerebellum and 4th ventricle tumour?
Medulloblastoma
What is the treatment of medulloblastoma?
Surgery
Chemo
XRT
What is the prognosis of medulloblastoma?
Survival rate is around 50%
How do brainstem tumours typically present?
Cranial nerve defects
Pyramidal tract signs
Cerebellar signs
Refusing to walk
Facial asymmetry and droolong
What is the usual diagnosis of a brainstem tumour?
Brainstem glioma
What is the usual treatment in brainstem glioma?
Palliative XRT
What is the prognosis of brainstem glioma?
<10%
How can spinal tumours present?
Back pain
Peripheral weakness in arms and legs
Bladder/Bowel dysfunction
Is non-Hodgkin lymphoma more common in childhood or adolescence?
Childhood
Is Hodgkin lymphoma more common in childhood or adolescence?
Adolescence
What are the clinical features in Hodgkin lymphoma?
Painless lymphadenopathy
Nodes may compress airway or SVC
History often many months long
Systemic symptoms: sweating, weight loss, fever and pruritus - uncommon even in advanced disease
What is the management of Hodgkins lymphoma?
Combination chemo +/- XRT
PET scans used to monitor response
What investigations should be done in hodgkins lymphoma?
Lymph node biopsy
Radiological assessment of nodal sites
Bone marrow biopsy
What are the cure rates for hodgkins lymphoma?
80%
60% for disseminated disease
How does T-cell Hodgkins lymphoma present?
Mediastinal mass +/- SVC obstruction
Varying degree of bone marrow infiltration
What are the signs of SVC obstruction?
Dyspnoea
Facial swelling and flushing
Venous distension of neck, upper chest and arms
How is NHL managed?
Multiagent chemo
How does B-cell NHL present?
Lymphadenopathy in neck, head or abdomen with a short history of illness
Abdo disease may cause obstruction, mass or intussusception
What is the prognosis of NHL?
Survival >80%
What investigations should be done in NHL?
Biopsy
Radiological assessment of all nodal sites
Examine bone marrow and CSF
Where is Burkitt lymphoma most commonly seen in the world?
Malaria endemic areas in Africa
Which viral infection is associated with Burkitt lymphoma?
EBV
Where does neuroblastoma arise from?
Neural crest tissue in the adrenal medulla and sympathetic nervous system
In which group of people can neuroblastoma sometimes spontaneously resolve?
Infants <1y/o
What are the common features of neuroblastoma?
Pallor
Weight loss
Abdominal mass
Hepatomegaly
Bone pain
Limp
What are the less common features of neuroblastoma?
Paraplegia
Cervical lymphadenopathy
Proptosis
Periorbital bruising
Skin nodules
Opsoclonus myoclonus
What investigations should be done in neuroblastoma?
Urinary catacholamine levels - VMA/HVA raised
Biopsy
Bone marrow sampling
MIBG scan
What age range does neuroblastoma typically present in?
<5y/o
Amplification of which oncogene confers a poor prognosis in neuroblastoma?
MYCN
What percentage of Wilms tumour presents <5y/o
80%
What is the prognosis in metastatic neuroblastoma?
Cure rate is 40%
How is localised neuroblastoma treated?
Surgery alone
How is metastatic neuroblastoma treated?
Chemo
XRT
Surgery
Where does Wilms tumour originate from?
Embryonal renal tissue
Which syndrome is associated with Wilms tumour?
Beckwith-Wedemann syndrome
What are the common presenting features of Wilms tumour?
Abdo mass (often only Sx in an otherwise well child)
Haematuria
What investigations are done in Wilms tumour?
USS
CT/MRI for staging
What are the less common presenting features in Wilms tumour?
Abdo pain
Anorexia
Anaemia
HTN
What is the management for Wilms tumour?
Initial chemo
Delayed nephrectomy
XRT in advanced disease
What percentage of Wilms tumour is bilateral at diagnosis?
5%
What percentage of Wilms tumour has metastatic disease at presentation?
15%
What is the cure rate for Wilms tumour?
80%
What is the most common type of soft tissue sarcoma in chdilren?
Rhabdomyosarcoma
What is the cure rate for metastatic disease in Wilms tumour?
60%
How do bone tumours typically present?
Persistent localised bone pain
Most otherwise well
Where does Rhabdomyosarcoma originate from?
Primitive mesenchymal tissue
On which chromosome is the retinoblastoma susceptability gene located?
13
How would a Rhabdomyosarcoma present in the head/neck region?
Proptosis
Nasal obstruction
Blood-stained nasal discharge
What is the cure rates of Rhabdomyosarcoma?
Around 65%
How would a Rhabdomyosarcoma present in the GU tract?
Dysuria
Urinary obstruction
Scrotal mass
Blood stained PV discharge
What percentage of Rhabdomyosarcoma is metastatic at diagnosis?
15%
How are bone tumours managed?
Combination chemo prior to surgery
En bloc resection can avoid amputation
XRT in Ewing sarcoma
What investigations should be done in Rhabdomyosarcoma?
Biopsy
Radiological assessment
How is Rhabdomyosarcoma managed?
Mixture of chemo/XRT/surgery depending on location/stage of tumour and age of patient
Are Ewing sarcoma and Osteosarcoma more common in males or females?
Males
How does Kaposi present?
Generalised lymphadenopathy
Purple/brown skin rash (rarer in children)
Is osteosarcoma or Ewing sarcoma more common in younger children?
Ewing
What investigations should be done in bone tumours?
Plain x-ray
MRI and bone scan
CT scan for lung or other mets
Bone marrow sampling
How is Kaposi sarcoma diagnosed?
Biopsy
How do liver tumours present in children?
Abdo distension or abdo mass
Rarely pain or jaundice
At what age does retinoblastoma typically present?
Within first 3 years of life
How many retinoblastoma cases are hereditary?
All bilateral cases
20% unilateral cases
How do bone tumours appear on an x-ray?
Destruction and variable periosteal new bone formation
In Ewing - substantial soft tissue mass
Where is Kaposi sarcoma common?
Sub-Saharan Africa
How is retinoblastoma inherited?
AD with incomplete penetrance
What are the commonest primary liver tumours in children?
Hepatoblastoma (65%)
Hepatocellular carcinoma (25%)
How is retinoblastoma managed?
Chemo
Local laser therapy to retinas
XRT in more advanced disease
What marker is almost always raised in hepatoblastoma and some hepatocellular carcinoma?
Alpha-fetoprotein
How does retinoblastoma typically present?
White pupillary reflex
Squint
What investigations should be done in retinoblastoma?
MRI
EUA
What causes Kaposi sarcoma?
HHV8
How is Kaposi sarcoma treated?
Chemo
Antiretroviral therapy
How are liver tumours typically managed?
Chemo
Surgery
In inoperable cases - transplantation
What is the prognosis for primary liver malignancy?
Hepatoblastoma - most cured
Hepatocellular carcinoma - less favourable
Where do germ cell tumours arise from?
Primitive germ cells which migrate from yolk sac endoderm
Where do most benign germ cell tumours form?
Sacrococcygeal region
Where do most malignant germ cell tumours form?
Gonads
What markers are important to check in germ cell tumours?
Alpha-fetoprotein
B-HCG
How are germ cell tumours managed?
Chemotherapy
What is the general prognosis in germ cell tumours?
Good outcomes
How does Langerhans cell histiocytosis present?
Bone lesions:
- pain, swelling, fracture
DI
- skull disease with hypothalamic infiltration
Systemic
- seborrheic rash
- soft tissue involvement
What is Langerhans cell histiocytosis?
Abnormal proliferation of histiocytes which is responsive to chemotherapy
What does x-ray typically show in Langerhans cell histiocytosis?
Characteristic lytic lesions with well defined borders
Which cancer is the C-myc oncogene associated with?
Burkitt’s lymphoma
Which cancer is the BCR-ABL oncogene associated with?
Philadelphia chromosome in CML
Which cancer is the Cyclin D oncogene associated with?
Breast
Oesophageal
Bladder
Lung
Which cancer is the HER2 proto-oncogene associated with?
Breast cancer
Which cancer is the RAS oncogene associated with?
Solid tumours
Mutations in what chromosome are associated with Beckwith-Wiedemann syndrome?
11p15
What are the typical features of Beckwith-Wiedemann syndrome?
Macrosomnia
Asymmetric limb growth
Macroglossia
Neonatal hypoglycaemia
Umbilical hernias
Increased rates of cleft palate and various tumours (most common is Wilms)
In what malignancy does N-myc confer a poor prognosis?
Neuroblastoma
What would be seen in a blood film for hereditary spherocytosis?
Small, dense, hyperchromic RBCs without central pallor
What causes hereditary spherocytosis?
Genetic mutation in the structural proteins in the RBC membrane (ankyrin and spectrin)
Deficiency of what factor is noted in haemophilia A?
Factor VIII
How is G6PD deficiency inherited?
X-linked recessive
What would typically be seen on the blood film in a post-splenectomy patient?
Howell-Jolly bodies - spherical granular inclusions in erythrocytes
Which monoclonal antibody is used for resistant ITP?
Rituximab
What causes Glanzmann’s thrombasthenia?
Deficiency of glycoprotein IIb/IIIa on the surface of the platelet
What are the symptoms of Glanzmann’s thrombasthenia?
Easy bruising
Excessive bleeding after trauma or epistaxis
How is Glanzmann’s thrombasthenia inherited?
AR (occasionally AD)
What would bee seen in investigations in a diagnosis of Glanzmann’s thrombasthenia?
Normal platelet count
Prolonged bleeding time
What are the symptoms of vWD?
Menorrhagia
Recurrent nosebleeds
Easy bruising
FHx clotting disorders
How is vWD inherited?
AD
What role does vWF play in haemostasis?
Platelet activation
Adherence to the damaged epithelium
What deficiency presents with inability to prolong APTT which a heparin infusion?
Antithrombin III deficiency
What does antithrombin II do?
Inhibits thrombin - deficiency leads to VTE
What is the main function of astrocytes?
Control of the blood brain barrier
How is haemophilia B inherited?
X-linked recessive
Where are the most common sites of extramedullary ALL relapse in children?
Testicles
Brain
