haematology: malignant haematology

Question 1

What is normal cell growth & differentiation

Answer 1

A controlled process that results in normal development, appropriate response to stimuli & replacement of dying cells

Question 2

What is oncogenesis

Answer 2

Acquisition of genetic mutation disrupting genome of cells & affect normal checks of cell growth

Question 3

What does the cancer phenotype depend on

Answer 3

Cell of origin & specific mutation

Question 4

What causes cancer

Answer 4

Mostly sporadic & some inherited or environmental factors

Question 5

What is clonality

Answer 5

Malignancies arise from a single cells that is susceptible to genetic mutations

Question 6

What is clonal evolution

Answer 6

Acquisition of additional mutations which provide survival advantage

Question 7

What is somatic mutation

Answer 7

Acquired during life of cells & influenced by abundance & nature of mutagens acting on cellular DNA & cells proof reading machinery

Question 8

What is the 4 types of somatic mutations that occur

Answer 8

1. Chromosomal translocation & inversion
2. Chromosome deletion & amplification
3. Sub microscopic mutations
4. Epigenetics

Question 9

What is the four main categories for diagnosis of haematological malignancies

Answer 9

1. FBC, differential count & smear review
2. BMA & BMT biopsy
3. Other cytochemistry or immunophenotyping tests
4. Genetic studies

Question 10

What is cytogenetics/karyotype

Answer 10

Study of chromosome’s morphology & banding pattern

Question 11

What is fluorescence in situ hybridisation

Answer 11

Fluorochrome labelled probes that bind to specific DNA sequence to look for addition/deletion of genetic material, copy number & translocation

Question 12

What is next generation sequencing

Answer 12

Rapid sequencing of many genes that is sensitive & accurate detection of many common gene rearrangements giving a mutation profiling

Question 13

What is acute leukaemias

Answer 13

Heterogenous group of disease with varying morphology, immunophenotypic, cytogenetic & molecular genetic abnormalities

Question 14

What is characteristics of leukaemic cells

Answer 14

Not differentiate, undergo apoptosis & increased rate of proliferation

Question 15

What is the process of acute leukaemias

Answer 15

Accumulation of a clone of cells (blasts) that fills the marrow cavity & leads to bone marrow failure due to replacement of normal HSC

Question 16

What is the biochemical results in leukaemia regarding WBC

Answer 16

1. Can spill into peripheral blood causing leukocytosis
2. Due to bone marrow failure & not being produced leading to leukopenia

Question 17

What is the two types of acute leukaemias

Answer 17

1. Acute myeloid leukaemia
2. Acute lymphoblastic leukaemia

Question 18

In who is acute lymphoblastic leukaemia more common

Answer 18

Mostly children

Question 19

What cells are affected in acute lymphoblastic leukaemia

Answer 19

B & T cells

Question 20

What is the symptoms in acute lymphoblastic leukaemia

Answer 20

Bone pain, lymphadenopathy, splenomegaly, CSF involvement, testicular swelling, mediastinal mass

Question 21

In who is acute myeloid leukaemia more common

Answer 21

Mostly adults

Question 22

What cells are affected in acute myeloid leukaemia

Answer 22

Numerous subtypes

Question 23

What is the symptoms in acute myeloid leukaemia

Answer 23

Gum hypertrophy, CNS involvement & extramedullary masses

Question 24

What is the clinical features in acute leukaemia

Answer 24

1. Pancytopenia
2. DIC

Question 25

What is pancytopenia

Answer 25

1. **Anaemia:** fatigue, weakness, hyperdynamic circulation, pallor mucous membranes 2. **Neutropenia:** infections, fever 3. **Thrombocytopenia:** bleeding tendency

Question 26

What is the on the differential smear in acute leukaemia

Answer 26

Neutropenia & >20% blasts

Question 27

What is myeloproliferative neoplasms

Answer 27

Increased proliferation of one of the granulocytic lineages

Question 28

What is increased proliferation in erythrocytes called & laboratory results

Answer 28

Polycythaemia vera Elevated RCC & Hb

Question 29

What is increased proliferation in thrombocytes called & laboratory results

Answer 29

Essential thrombocythaemia Elevated platelets

Question 30

What is increased proliferation in basophils, neutrophils or eosinophils called & laboratory results

Answer 30

Chronic myeloid/neutrophilic/eosinophilic leukaemia Elevated WBC

Question 31

What is increased proliferation in megakaryocytes or granulocytes called & laboratory results

Answer 31

Myelofibrosis Elevated WBC & platelets

Question 32

What is five signs & symptoms of myeloproliferative neoplasms

Answer 32

1. **Hyper viscosity:** headache, HPT, visual disturbance & plethora 2. **Splenomegaly** 3. **Thrombosis:** arterial & venous 4. **Haemorrhage:** dysfunctional platelets 5. **Hypermetabolism:** loss of weight, night sweats & anorexia

Question 33

What four things are seen in the differential smear in myeloproliferative neoplasms

Answer 33

1. Left shift 2. Basophilia 3. Tear drops 4. Nucleated red cells

Question 34

What is myelodysplastic syndrome

Answer 34

Group of clonal HSC disorders that causes ineffective haemopoiesis leading to peripheral blood cytopenia

Question 35

What is the symptoms of myelodysplastic syndrome

Answer 35

Anaemia &/ neutropenia &/ thrombocytopenia

Question 36

What is the results of FBC & differential smear in myelodysplastic syndrome

Answer 36

Pancytopenia & macrocytic anaemia & low RPI

Question 37

What is the smear results in myelodysplastic syndrome

Answer 37

Single-/multi-lineage dysplasia with <20% blasts

Question 38

What is essential for myelodysplastic syndrome diagnosis

Answer 38

Genetic abnormality

Question 39

In what can myelodysplastic syndrome transform into

Answer 39

Acute leukaemia

Question 40

What is a lymphoma

Answer 40

Arise from maturing lymphoid cells with oncogenic mutations during antigen receptor gene rearrangement

Question 41

What is mature B cell neoplasm

Answer 41

A mutation that occur during immunoglobulin gene rearrangement, somatic hypermutation & class switching

Question 42

Where does mature B cell neoplasms occur

Answer 42

Pre germinal center, germinal center & post germinal center

Question 43

What is the symptoms seen in mature B cell neoplasms

Answer 43

Triad of unexplained fever, night sweats & weight loss (>10% in previous 6 months)

Question 44

What is the three types of lymphoma's

Answer 44

1. Mature B cell neoplasm 2. Mature T cell & NK cell neoplasm 3. Hodgkin's lymphoma

Question 45

What is lymphoma vs leukaemia

Answer 45

**Lymphoma:** lymph nodes, spleen & other solid organs **Leukaemia:** bone marrow with circulating tumor cells & maturation arrest

Question 46

What is the typical presentation of Hodgkin's lymphoma

Answer 46

Organomegaly Cytopenia & marked marrow infiltration leading to anaemia, neutropenia & thrombocytopenia Lymphocytosis

Question 47

What is used for the five diagnostic steps for a lymphoma

Answer 47

1. FBC, differential count & smear review 2. Exclude reactive cause with ESR, CRP, autoimmune screen & viral studies (EBV & HIV) 3. Lymph node biopsy 4. BMA & trephine biopsy 5. Radiological investigation: chest x-ray, ultrasound, CT, PET & MRI

Question 48

What is plasma cell dyscrasia

Answer 48

Clone of immunoglobulin secreting (M protein) terminally differentiated B cells

Question 49

What does plasma cell dyscrasia cause

Answer 49

End organ damage

Question 50

What is the supportive care in cancer

Answer 50

1. **Psychological support:** adequate communication, emotional & financial 2. **Additional symptoms management:** cytopenia with blood products, pain management & treatment of infections