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MBBS II HIS > L21-22 - White Cell Disorders and Their Investigations > Flashcards

L21-22 - White Cell Disorders and Their Investigations Flashcards

1
Q

Compare the changes in the haematopoeitic system under reactive or malignant change.

A

Reactive = Mainly quantitative changes** in normal cell types, Qualitative changes possible, e.g. atypical lymphocytosis

Malignant = Primary abnormality of haemopoietic system. Usually both quantitative and qualitative changes

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2
Q

List the 5 lab investigations of WBC disorders.

A
  • Complete blood count
  • Morphology, including: PBS, BM aspirate, trephine biopsy, cytochemistry
  • Immunophenotype, including: Flow cytometry, immunohistochemistry
  • Cytogenetics: Karyotyping, FISH
  • Molecular genetics: PCR-based
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3
Q

Limitation of machine differential CBC?

A

Not good for blasts; good if only neutrophil, lymphocyte, monocyte, eosinophil, basophil

Always verify with manual count if in doubt

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4
Q

Function of Peripheral blood smear?

A

 Confirm nature of cytopenia / increased white cell count

 Detect abnormal cell types / abnormal morphology

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5
Q

Advantages and disadvantages of BM aspirate for white cell disorder?

A

Adv: Good cytological detail:

  • Determine cellularity
  • Detect dysplastic morphology
  • Assess haemopoiesis of diff. lineages

Disadv:
- Architecture not preserved

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6
Q

Advantages and disadvantaged of Trephine biopsy for white cell disorder?

A

Adv:

  • Preserves bone marrow architecture: assess marrow cellularity, pattern of abnormality, structure
  • Allows immunophenotyping by immunohistochemistry

Disadv:

  • Less sensitive than aspirate for cytological detail
  • More invasive
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7
Q

Compare the technique for cytochemistry of myeloid lineage vs lymphoid?

A

Myeloid =  Myeloperoxidase (MPO: in neutrophils)  Sudan Black B (SBB)

Lymphoid = immunophenotyping to classify (no good cytochemistry)

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8
Q

Compare what is investigated in cytochemistry vs immunophenotyping?

A

Cytochemistry = Uses microscopy to detect dye / reaction product*** in the cells of interest

Immunophenotyping: Detects antigens* on cells of interest = determines cell lineage*

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9
Q

List the antigens used to differentiate myeloid vs lymphoid lineages in immunophenotyping? exam

A

Myeloid lineage:
 Myeloperoxidase (MPO) (exam)
 CD117, CD13, CD33

Lymphoid lineage:
 B-ALL: CD19 (exam), CD79a, CD22
 T-ALL: CD3 (exam)

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10
Q

Define whats investigated by flow cytometry?

A

investigate co-expression of antigens on a single cell

peripheral blood or marrow aspirate

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11
Q

What tissues are assessed in flow cytometry vs immunohistochemistry vs cytochemistry?

A

Cytochemistry = peripheral blood / bone marrow aspirate

Immunohistochemistry = trephine biopsy

Flow cytometry = peripheral blood / bone marrow aspirate

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12
Q

Immunohistochemistry is a good technique for investigating co-expression of Ag on single cell. T or F?

A

False

Flow cytometry used instead for finding co-expression of Ag

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13
Q

Karyotyping asseses cells in which phase of cell cycle?

A

study of chromosomes at metaphase stage*** of Mitosis when chromatin is highly condensed

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14
Q

Principle of FISH?

A

Single-stranded DNA probes attached with fluorophores/fluorochromes

> > form hybrid double-stranded complexes with their complementary genomic DNA sequences in cell

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15
Q

What is investigated by FISH?

A

Fluorescence in-situ hybridisation

Investigate:
 Increase / decrease in copy number of target genes
 Whether there is fusion of target genes

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16
Q

What is the most common cause of leucocytosis? exam

A

Quantitative WBC disorder = mostly reactive causes

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17
Q

List some causes of neutrophilia?

A

· Infections: Bacterial, esp. pyogenic

· Inflammation

· Malignancy
o Solid tumours
o Haematological: Myeloproliferative neoplasms, esp. CML, MF

· Drugs 
o Steroid (demargination of neutrophils), growth factors etc.
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18
Q

List some P/E or clinical presentation signs of neutrophilia caused by Infection? Investigation?

A 
 Fever 
 Cough 
 Sputum  
 Diarrhea 
 Dysuria

Microbioloical investigations (i.e. sputum culture, AFB smear, culture)

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19
Q

List some P/E or clinical presentation signs of neutrophilia caused by Inflammation? Investigation?

A

Symptoms/signs:  Skin rash  Photosensitivity  Joint pain etc.

Inflammatory markers:
o Erythrocyte sedimentation rate (ESR)
o C-reactive protein (CRP)
Autoimmune markers

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20
Q

List some P/E or clinical presentation signs of neutrophilia caused by Malignancy? Investigation?

A

 Cachexia / weight loss
 Masses
 Lymphadenopathy
 Blood-stained sputum

  • PBS +/- Marrow exam
  • Cytogenics
  • Molecular genetics
  • Tumour markers
  • Radiological scans
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21
Q

Types of malignancies that cause neutrophilia?

A
  • Solid tumours: WBC reaction or paraneoplastic causing neutrophilia
  • Haematological: Myeloproliferative neoplasms***: esp. CML and Myelofibrosis
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22
Q

What are the expected cytogenetic and molecular genetic results of CML?

A

Cytogenetics: t(9;22) Translocation = Philadelphia chromosome

Molecular genetics (e.g. PCR): BCR-ABL1 fusion transcript (defining mutation of CML)

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23
Q

Most common cause of Basophilia? 2 Less common causes?

A

myeloproliferative neoplasms** (especially chronic myeloid leukemia (CML))

Less common:
 Autoimmune diseases, IBD  Acute hypersensitivity

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24
Q

3 causes of Monocytosis?

A

 Infections (especially tuberculosis, bacterial infections)

 Autoimmune diseases

 Chronic myelomonocytic leukaemia (CMML)

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25
List some DDx of spenlomegaly?
- Portal hypertension - Infection: esp. infective endocarditis, infectious mononucleosis, malaria, schistosomiasis - Autoimmune diseases - Storage diseases (in paediatrics) - Haematological diseases causing sequestration (e.g. sickle cell anaemia)
26
What haematological diseases can cause splenomegaly?
Myeloproliferative neoplasm (can be massive in CML & MF), lymphomas and leukaemias Thalassaemia intermedia or major Haemolytic anaemia
27
List important causes of thrombocytosis?
- Reactive to bleeding, inflammation, autoimmune diseases - Hyposlenism ( most commonly post-splenectomy) - Malignant: solid or Myeloproliferative neoplasms
28
Expected bone marrow and PBS histology in CML?
Bone marrow: Increased myeloid cells and megakaryocytes (with abnormal morphology) Marked leucocytosis: Prominent Bimodal distribution of myelocytes and neutrophils + marked eosinophilia and Basophilia
29
Most common cause of Eosinophilia in HK?
Drug reaction usually has concurrent deranged liver functions
30
List causes of eosinophilia? (think about what eosinophils do)
- Drug reaction** - Hypersensitivity reaction - Infections: esp. parasitic/ helminthic/ exotic infections from travel - Autoimmune diseases - Malignancies: solid or haemo.
31
List some malignancies that causes eosinophilia?
 Lymphomas (T-cell lymphoma, Hodgkin lymphoma)  Myeloproliferative neoplasms (MPN), e.g. CML  Solid malignancies (e.g. lung cancer)
32
What investigations for eosinophilia caused by malignancies?
- PBS to ascertain eosinophilia : e.g. dysplastic features, high blast count, abnormal lymphoid cells - CXR for suspected solid tumour: e.g. lung, mediastinum - BM exam for suspected haemic malignancy: further cytogenetics, molecular tests - LN biopsy if suspected lymphoma/ lymphadenopathy
33
What type of Mibi test to do for eosinophilia?
Test for parasitic infections: | Stool for culture of ova and cyst
34
What are the first line investigation for bleeding tendencies e.g. after tooth extraction?
Complete blood count, PT/APTT
35
List some causes of pancytopenia? (think about different ways to cause myelosuppression)
- Infections causing myelosuppression - Drug induced: e.g. chemotherapy-caused myelosuppression - Dietary deficiencies - Autoimmune induced myelosuppression - Infiltrative marrow malignancies - Splenomegaly Rare: - Inherited - Paroxysmal nocturnal haemoglobinuria
36
What are the marrow malignancies that cause pancytopenia?
– Marrow infiltration – Acute Leukaemia – Aplastic anaemia – Myelodysplastic syndrome (MDS)
37
Investigations for megaloblastic anaemia?
Diet history Complete blood count (CBC) Peripheral blood (PB) smear Vitamin B12 / folate level
38
Define acute leukemia.
≥20% blasts in the peripheral blood / bone marrow
39
2 histological features of acute myeloid leukemia? (AML, APL?)
Auer rod = pathognomonic feature of myeloid neoplasms (e.g. AML, MDS) Faggot cell (many Auer rods) = acute promyelocytic leukemia (APL))
40
Expected Clinical features, blood count, clotting profile in acute promyelocytic leukaemia (APL)?
 Clinical features: anaemic symptoms, bleeding tendencies + bruising, Fever and infection related to leukopenia.  Blood count: pancytopenia (classical)  Clotting profile: disseminated intravascular coagulation (DIC) ***: Increase PT, APTT, D-dimer
41
Define the characteristic morphology of myeloid cells in APL?
Faggot cells
42
Molecular genetic and cytogenetic feature of APL?
Fusion gene of PML-RARa: targeted and degraded by ATRA/ Arsenic trioxide Cytogenetics: t(15;17)
43
Which cytochemistry dyes react strongly in APL
Strongly positive for myeloperoxidase & Sudan Black B
44
Sequalae and treatment for APL?
Fatal intracranial bleeding secondary to thrombocytopenia and DIC urgent treatment with all-trans retinoic acid or Arsenic trioxide +/- supportive transfusion, esp. platelet, plasma
45
Which subtypes of cytopenia are common manifestations of haemo. malignancies?
Usually anaemia and thrombocytopenia may have Leucopenia, or leukocytosis with neutropenia
46
List some causes of Neutropenia?
 Infection, especially viral (e.g. cytomegalovirus (CMV), HIV, EBV, hepatitis, parvovirus)  Autoimmune  Drug-induced  Marrow malignancies  Inherited (very rare)
47
List some marrow malignancies that cause neutropenia?
– Marrow infiltration – Leukaemia – Aplastic anaemia – Myelodysplastic syndrome (MDS)
48
Describe the histological features in BM biopsy in MDS?
* Hypercellular/ hyperplastic marrow * Focal prominence of blasts * Increased and dysplastic myeloid, erythroid precursors +/- megakaryocytes
49
Expected CBC findings in MDS?
– Pancytopenia | – Red cell macrocytosis
50
Expected karyotype findings in MDS?
Complex karyotype, including del(5q) and monosomy 7
51
List causes of lymphocytosis?
• Reactive – Lymphocytosis: Infections, autoimmune disease – Atypical lymphocytosis: Viral infections, autoimmune disease • Malignant – Acute: ALL – Chronic: CLL, leukaemic phase of lymphomas
52
Lymphocytosis returns positive in Myeloperoxidase and Sudan black B in cytochemistry. T or F?
False Myeloperoxidase and Sudan black B are for myeloid lineages
53
Which antigens to look out for when investigating possible lymphocytosis?
CD3 (T cell marker) CD19 (B cell marker) 79a-PE = B cell marker
54
What causes atypical lymphocytosis?
Atypical = reactive viral infections / autoimmune disease
55
Prototype of atypical lymphocytosis? Morphology of cells?
Prototype = infectious mononucleosis lymphocytosis with increased atypical lymphocytes (bigger, irregular nucleus)
56
Expected karyotyping results in paediatric B-ALL?
Hyperdiploid karyotype | 54,XY,+8,+10,+11,+12,+14,+21,+21,+22
57
Causes of lymphadenopathy?
- Infection: TB, pyogenic, viral - Autoimmune/ inflammatory diseases - Haemo. malignancies: LYMPHOMA**, possible leukaemia or metastatic carcinoma
58
List the investigations for lymphadenopathy?
 CBC  Peripheral blood smear  Imaging - HRUS, PET-CT  Lymph node biopsy
59
List the investigations work-ups for CLL/ lymphoma?
* Morphology: Peripheral blood, bone marrow, lymph node biopsy * Immunophenotyping: Diagnostic classification by Flow cytometry * Cytogenetics/FISH: Prognostication
60
Difference in the type of cells that cause acute vs chronic haemo. malignancies?
Acute = immature cell types, i.e. AML, ALL, Blasts ≥20% in peripheral blood or BM Chronic = mature cell types: mature B cell lymphoma, mature T cell lymphoma
61
Difference in the rate of advancement between acute and chronic haemo. malignancies?
Acute = rapid and fatal if untreated Chronic = usually slows, but some malig. can progress fast i.e. Burkitt lymphoma, DLBCL
62
How is lymphoma vs leukemia distinguished?
Depends on the primary tissue involved or originated from: – Leukaemia: from blood and/or bone marrow – Lymphoma: from lymph nodes, spleen, or other tissues (e.g. nasopharynx, GI tract)
63
Explain whether leukaemia and lymphoma overlap?
Not mutually exclusive*** >> leukaemias can localise in lymph nodes or tissues (i.e. T lymphoblastic lymphoma in mediastinal LN) >> Late stage lymphoma can spread from LN to involve blood and BM (i.e. lymphoma in leukaemic phase)
64
How to tell MDS from MPN?
• Mutations for Uncontrolled proliferation** – More towards MPN** • Mutations for Impaired differentiation** – More towards MDS** Depends on mutation pattern and phenotype!
65
Which type of genetic sequencing is commonly used in cancer testing?
Targeted sequencing of selection of genes
66
Which type of genetic sequencing is commonly used in rare inherited diseases?
Whole EXOME sequencing: All exons of protein-coding genes

MBBS II HIS (30 decks)

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