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Year 5: Pathology > Haematology > Flashcards

Haematology Flashcards

1
Q

SUMMARY CARD:

What is the difference between leukaemia and lymphoma?

A

Leukaemia = originates in the bone marrow
Lymphoma = neoplastic tumour of lymphoid tissue; originates in the lymph nodes

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2
Q

SUMMARY CARD:

How can the types of lymphoma be split?

A

1. B-cell lymphomas:

  • Hodgkin’s lymphoma (Reed-Sternberg cells, most common in 15-40 y/o)
  • Everything else is Non-hodgkin’s lymphoma, e.g.:
  • Burkitt’s (‘starry sky’ appearance, most common in < 15 y/o)
  • Diffuse Large B-cell (‘sheets’, most common in > 40 y/o)
  • Mantle cell (t 11;14, angular nuclei)
  • Follicular (t 14;18, nodular appearance)
  • Mucosal associated lymphoid tissue (MALT) lymphoma (RF = H. pylori)

2. T-cell Lymphomas:

  • Anaplastic large cell lymphoma (t 2;5)
  • Peripheral T-cell lymphoma
  • Adult T cell leukaemia / lymphoma (Carribbean + Japanese, HTLV-1)
  • Enteropathy associated T-cell lymphoma (EATL)
  • Cutaneous T-cell lymphoma (mycosis fungoides)
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3
Q

SUMMARY CARD:

How are B-cell lymphomas classified?

type of staging

A

Ann arbor staging - used for Hodgkin’s AND Non-Hodgkin’s lymphoma

  • Stage 1 = 1 LN region (can include SPLEEN)
  • Stage 2 = 2 or more LN regions on SAME side of diaphragm
  • Stage 3 = 2 or more LN regions on OPPOSITE sides of diaphragm
  • Stage 4 = extranodal involvement (e.g. liver)

REMEMBER: spleen counts as an LN, NOT extranodal
NOTE: Stage 4 (extranodal sites) = more common in NHL

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4
Q

SUMMARY CARD:

  • What is Hodgkin’s lymphoma?
  • How can it be categorised?
A
  • Most common type of lymphoma between ages 15-40; bimodal distribution (20-29 y/o, 60+ y/o)
  • Reed-Sternberg cell –> binucleate lymphocytes/owls eyes
  • Can be split into classical and non-classical
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5
Q

SUMMARY CARD:

  1. What are the RFs, S&S, Ix and Mx of classical Hodgkin’s lymphoma?
  2. What are key differences in non-classical Hodgkin’s lymphoma?

EBV, CD15/30/20, B Sx, alcohol, owl, ABVD

A

1. CLASSICAL Hodgkin’s lymphoma:

  • RFs = EBV-associated
  • CD15 +ve, CD30 +ve, CD20 -ve (note: normal B-cells are CD20 +ve)
  • Subtypes: nodular sclerosing (most common; presents w/ mediastinal mass causing raised JVP, facial swelling); mixed cellularity (17%, good prognosis), lymphocyte-rich (good prognosis), lymphocyte depleted (poor prognosis, hypocellular)
  • Sx = painless lymphadenopathy that is painful after alcohol consumption + 'B' Sx e.g. fever (cyclical 1-2 wks), night sweats, weight loss >10% unintentionally
  • Affected nodes: neck (cervical/supraclavicular) > axillary > inguinal
  • Ix = LN biopsy –> REED-STERNBERG cells (bi-nucleate, ‘owl eyes’)
  • Bloods = ↑ WCC (neutrophils + eosinophils), normocytic anaemia, ↑CRP
  • PET / CT for staging
  • Mx = combination chemo w/ AVBD (preserves fertility): adriamycin, bleomycin, vinblastine, dacarbazine
  • +/- radiotherapy if ↑ risk of relapse
  • SCT = curative (usually autologous SCT; used in relapse)

2. NON-CLASSICAL Hodgkin’s lymphoma:

  • NO EBV-association
  • CD15 -ve, CD30 -ve, CD20 +ve
  • S&S = elderly, isolated lymphadenopathy
  • Histology = B-cell rich nodules without the presence of eosinophils or macrophages
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6
Q

SUMMARY CARD:

What are the RFs, S&S, Ix and Mx of the following NHLs:

  1. Burkitt’s lymphoma
  2. Diffuse Large B cell lymphoma
  3. Mantle Cell
  4. Follicular
  5. MALT
  6. Small lymphocytic lymphoma
A
  • All NHL = NO reed-sternberg cells
  • NHL can deplete B-cells, resulting in reactivation of HBV, which can result in fulminant liver failure
  • Sx = painless lymphadenopathy NOT affected by alcohol, multiple site LNs, consitutional Sx

1. Burkitt’s (high grade)

  • Most common lymphoma in < 15 y/o
  • Agressive, t(8;14) translocation of c-myc oncogene
  • Histology = 'Starry-sky appearance' (the stars are macrophages phagocytosing the apoptotic tumour cells)
  • Mx = RAPID chemo (rituximab – anti-CD20)
  • NOTE: 2-3 weeks median survival w/o treatment
  • 3 main types: endemic, sporadic, immunodeficiency
  • Endemic = Africa + characteristic jaw involvement + EBV-associated
  • Sporadic = found in the west, jaw less commonly involved
  • Immunodeficiency = non-EBV associated + HIV/post transplant patients

2. Diffuse Large B cell lymphoma (high grade)

  • Most common in > 40 y/o
  • Aggressive
  • 2 subtypes: immunodeficiency-associated (EBV) OR body-cavity based (HHV-8; can remember as cav8ty for HHV8)
  • Histology = large lymphoid sheets
  • Mx = R-CHOP chemo regimen (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine + Prednisolone)
  • Prognosis = good if germinal centre, poor if p53 (GGPP)
  • Relapse = autologous SCT or CAR-T (chimeric antigen receptor therapy; engineer body’s T-cell to attack specific antigen)

3. Mantle Cell (low grade)

  • Middle-aged men
  • CD5+ve
  • Sx = lymphadenopathy + extra-nodal manifestations
  • t(11;14), translocation results in cyclin D1 overexpression (diagnosed w/ FISH/PCR)
  • Histology = ‘angular clefted nuclei’
  • Prognosis = aggressive (3-5 year mean survival)
  • Mx = R-CHOP

4. Follicular (low grade)

  • t(14;18), results in overexpression of BCL-2;
  • NOTE: BCL-2 important in apoptosis
  • Indolent (AKA slow growing but incurable) so often long median survival w/o Tx but incurable
  • Arises from germinal centre
  • May undergo Richter transformation into high-grade
  • Histology = follicular pattern w/ centrocytes
  • Mx = watchful waiting if no compression symptoms, can give R-CVP if these symptoms arise

5. MALT (low grade)

  • Mucosal-associated lymphoid tissue
  • Chronic antigen stimulation (H.pylori → gastric MALT, Hashimoto’s → thyroid lymphoma, Sjogren’s → parotid lymphoma)
  • Arise from non-germinal centre memory cells
  • Can transform into high-grade (Richter)
  • Mx = remove antigen stimulus i.e. treat H.pylori w/ triple therapy

6. Small lymphocytic lymphoma (low grade)

  • Lymphadenopathy in middle-aged / elderly
  • Indistinguishable from CLL apart from the fact it is seen in the lymph nodes rather than bone marrow (sometimes more peripheral blood lymphocytes)
  • CD5+ve + CD23+ve
  • Histology = loss of follicles + T-cell areas
  • Indolent
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7
Q

SUMMARY CARD:

What are key facts about these T-cell lymphomas:

  1. Anaplastic large cell lymphoma
  2. Peripheral T-cell lymphoma
  3. Adult T-cell leukaemia / lymphoma
  4. EATL
  5. Cutaenous T-cell lymphoma
A

1. Anaplastic large cell lymphoma

  • Aggresive, affects children + young adults
  • Histology = large 'epithelioid' lymphocytes
  • T-cells express CD3, CD5 and CD30 +ve
  • t(2;5) affects Alk-1 protein expression

2. Peripheral T-cell lymphoma

  • Middle aged + elderly
  • Aggressive
  • Large T-cells

3. Adult T-cell leukaemia / lymphoma (ATLL)

  • HTLV-1 retrovirus association
  • Prevalent in Japanese / Korean / Caribbean
  • Tumour cells are CD4+ve
  • Hypercalcaemia
  • Histology = lymphoma cells have nuclei shaped flowers/clover leaf

4. EATL

  • Enteropathy associated T-cell lymphoma
  • Associated w/ long-standing coeliac disease
  • Poor response to chemo

5. Cutaenous T-cell lymphoma

  • Associated w/ mycosis fungiodes
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8
Q

SUMMARY CARD:

What are the RFs, S&S, Ix and Mx of the following acute leukaemias:

  1. Acute lymphoblastic leukaemia
  2. Acute myeloid leukaemia
  3. Acute promyeloblastic leukaemia

BONUS: what is transient abnormal myelopoiesis

A
  • Acute leukaemias affect blood precursor cells
  • Rapidly progressing w/ immature blasts >20% of bone marrow cells

1. Acute lymphoblastic leukaemia

  • Most common childhood leukaemia
  • S&S = anaemia, bleeding, lymphadenopathy (tissue infiltration), mets (CNS, testicular enlargment, thymic/mediastinum enlargement)
  • Bloods = ↑ WCC, ↓ Hb, ↓ platelets
  • Bone marrow aspirate + immunohistochemistry = >20% blasts, ↑nucleus:cytoplasm ratio
  • Chemotherapy = 2 years in girls, 3 years in boys (due to blasts in testes)
  • Poor prognostic factors = philadelphia-Chr +ve (t 9;22, BCR-ABL fusion gene), < 2 or > 10 y/o, WBC > 20 * 10^9/L at diagnosis, T or B cell surface markers, non-Caucasian, male sex

2. Acute myeloid leukaemia

  • Associations = Down’s, t (8;21)
  • M3 subtype = APML + more prone to DIC + bleeding
  • M4/5 subtype = monoblasts, gum infiltration, ↓K+
  • S&S = anaemia, bleeding, bone pain, normocytic normochromic anaemia
  • Bloods = ↑ WCC (>20% blasts), ↓ Hb, ↓ platelets
  • Histology = Auer Rods (diagnostic) seen under Sudan black stain
  • Mx = supportive + combination chemo
  • NOTE: just need ONE auer rod for diagnosis on BM aspirate histology

3. Acute promyeloblastic leukaemia

  • M3 subtype of AML
  • Associations = t(15;17), PML-LARA alpha gene fusion
  • Sx = haemorrhagic, DIC, thrombocytopenia
  • Histology = premyelocytes w/ multiple Auer rods + bilobed nuclei, myeloperoxidase stain
  • Good prognosis
  • Mx = ATRA (all trans retinoic acid AKA vitamin A + arsenic trioxide)

BONUS: transient abnormal myelinolysis is a condition that resembles AML and develops in neonates - it resolves spontaneously + completely after few weeks

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9
Q

SUMMARY CARD:

What are the RFs, S&S, Ix and Mx of the following chronic leukaemias:

  1. Chronic lymphocytic leukaemia
  2. Chronic myeloid leukaemia

BONUS: what is hairy cell leukaemia?

A

1. Chronic lymphocytic leukaemia - affects lymphocytes

  • Most common adult leukaemia
  • Progressive accumulation of functionally incompetent lymphocytes (affects esp. B-cells)
  • Often ASYMPTOMATIC + incidental lab finding
  • Sx = AIHA + ITP
  • Ix = lymphocytosis + smear/smudge cells
  • Immunophenotype: CD5 +ve + CD19 +ve (NOTE: normally mature B-cells are CD19+ve CD5-ve, and mature T-cells are CD19-ve CD5+ve)
  • BINET staging: A = < 3 groups of enlarged LNs, B = > 3 groups of enlarged LNs, C = anaemia + thrombocytopenia
  • Stage A = watchful waiting, Stage B = consider Tx
  • Stage 3 Mx = ibrutinib (oral BTK inhibitor) or venetoclax (BLC-2 inhibitor)
  • NOTE: BLC-2 receptor is important in apoptosis
  • Sudden transformation to ALL is called Richter’s (1% risk per year)
  • Mnemonic RABIS = Richter, AIHA, Binet staging, ibrutinib, Smear cells

2. Chronic myeloid leukaemia - affects granulocytes (neutrophils, basophils, eosinophils)

  • MYELOPROLIFERATIVE disease
  • Affects middle aged 40-60 y/o, 80% philadelphia chromosome +ve (t 9;22, BCR-ABL gene fusion)
  • Usually has 3 phases = chronic, accelerated + blast (resembles acute leukaemia)
  • Sx = MASSIVE splenomegaly, FLAWS, may present w/ blast crisis
  • Bloods = ↑ WCC (esp. neutrophils + basophils)
  • Biopsy = hypercellular BM w/ immature cells (left shift)
  • Mx: Imatinib (BCR-ABL TKI = most effective in chronic phase)
  • SEs = pleural effusion + fluid overload –> monitor response w/molecular transcripts
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10
Q

SUMMARY CARD:

What is tumour lysis syndrome?

A

Haematological emergency due to treatment of high grade (aggressive) leukaemias and lymphomas

  • Cairo Bishop scoring system = used diagnose TLS
  • Potassium >6mmol/L, Phosphate >1.125 mmol/L, Calcium < 1.75mmol/L, Urate >475umol/L
  • NOTE: everything high apart from calcium
  • Mx = IV fluids + allopurinol
  • Prevention: IV allopurinol/rasburicase (to reduce hyperuricaemia)
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11
Q

DISEASE:

  • Which subtype of Hodgkin Lymphoma is most commonly associated with a mediastinal mass in young adults?
  • What would be seen on histology?
  • What is the Mx?
A
  • Nodular sclerosing = most common
  • Reed-sternberg
  • ABVD = adriamycin, bleomycin, vinblastine, dacarbazine
  • SCT = curative (usually autologous SCT; used in relapse)
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12
Q

DISEASE:

Which lymphoma is characterised by a "starry sky" appearance on histology?

A

Burkitt’s lymphoma

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13
Q

DISEASE:

12 y/o - painless lymphadenopathy
Africa + characteristic jaw involvement + EBV-associated

  • Diagnosis?
A

Endemic Burkitt’s lymphoma

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14
Q

DISEASE:

Which lymphoma is associated with the t(14;18) translocation (+ histology)?

Which lymphoma is associated with the t(11;14) translocation (+ histology)?

A

Follicular (t 14;18) = follicular pattern w/ centrocytes

Mantle cell (t 11;14) = angular clefted nuclei

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15
Q

DISEASE:

40M - Japanese
HTLV-1 association
Histology: lymphoma cells have nuclei shaped flowers/clover leaf

  • Diagnosis?
A

ATLL (adult t-cell leukaemia / lymphoma)

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16
Q

DISEASE:

Which lymphoma shows large lymphoid sheets on histology?

BONUS: what is the Mx?

A

Diffuse Large B cell lymphoma (high grade)

Mx = R-CHOP chemo regimen (Rituximab, Cyclophosphamide, Doxorubicin, Vincristine + Prednisolone)

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17
Q

DISEASE:

Which lymphoma is associated with chronic antigen stimulation?

A

MALT

e.g. H.pylori → gastric MALT, Hashimoto’s → thyroid lymphoma, Sjogren’s → parotid lymphoma

Mx = remove antigen stimulus

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18
Q

DISEASE:

Which lymphoma is characterized by large “epithelioid” lymphocytes?

A

Anaplastic Large Cell Lymphoma

NOTE: t(2;5) affects Alk-1 protein expression

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19
Q

DISEASE:

Which lymphoma is associated with long-standing celiac disease?

A

EATL

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20
Q

DISEASE:

Which leukemia is most common in childhood and presents with anemia, bleeding, and lymphadenopathy?

What would be seen on bone marrow aspirate?

BONUS: what are the poor prognostic factors?

A

ALL = ↑ WCC, ↓ Hb, ↓ platelets
Bone marrow aspirate + immunohistochemistry = >20% blasts

Poor prognostic factors:
* Philadelphia-Chr +ve (t 9;22, BCR-ABL fusion gene)
* < 2 or > 10 y/o
* WBC > 20 * 10^9/L at diagnosis
* T or B cell surface markers
* Non-Caucasian
* Male sex

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21
Q

DISEASE:

Which marker is diagnostic for Acute Myeloid Leukemia (AML) and seen under Sudan black stain?

A

Auer rods

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22
Q

DISEASE:

Which subtype of AML is associated with t(15;17) translocation and PML-RARA gene fusion?

BONUS: Sx + Mx?

A

APML = Acute promyeloblastic leukaemia

Sx = haemorrhagic, DIC, thrombocytopenia

Histology = premyelocytes w/ multiple Auer rods + bilobed nuclei

Mx = ATRA (all trans retinoic acid AKA vitamin A + arsenic trioxide)

23
Q

DISEASE:

Which immunophenotype markers are characteristic of Chronic Lymphocytic Leukemia (CLL)?

BONUS: what does RABIS mnemonic stand for?

A

CD5 +ve, CD19 +ve

Mnemonic RABIS = Richter, AIHA, Binet staging, ibrutinib, Smear cells

24
Q

DISEASE:

Child on chemotherapy presents to A&E w/ D&V, abdo pain, muscle cramps

Bloods = high phosphate, high K+, low Ca2+

  • Diagnosis?
  • Mx?
A

Tumour lysis syndrome

Mx = IV fluids + allopurinol

25
Q

DISEASE:

What is the first-line treatment for Chronic Myeloid Leukemia (CML) in the chronic phase?

BONUS: what type of cell does it affect + associated w/ which chromosome + histology?

myeloproliferative disease, granulocytes, spleen, t (9;22)

A

Imatinib (a BCR-ABL tyrosine kinase inhibitor)

CML affects granulocytes –> ↑ WCC (esp. neutrophils + basophils) as it is a MYELOPROLIFERATIVE disease

Philadelphia Chr +ve (t 9;22)

Sx = MASSIVE splenomegaly, FLAWS

Biopsy = hypercellular BM w/ immature cells (left shift)

26
Q

DISEASE:

Which acute leukemia is most likely to present with CNS and testicular involvement?

BONUS: what does this mean about the Mx difference between boys and girls?

A

ALL

Chemotherapy - girls Tx for 2 years, boys 3 yrs due to blast cells in testes

27
Q

SUMMARY CARD:

What are the myeloproliferative disorders and how can they be categorised?

A

Myeloproliferative disorders = bone marrow produces too many blood cells

Split into Phil Chr + ve:

  1. CML (covered earlier)

And Phil Chr -ve:

  • True polycythaemia
  • Relative Polycythaemia
  • Polycythaemia Vera
  • Myelofibrosis
  • Essential Thrombocytosis
  • Idiopathic erythrocytosis
28
Q

SUMMARY CARD:

What is true polycythaemia (primary / secondary causes)?

What is pseudo / relative polycythaemia?

What are the RFs, Sx, Ix, and Mx of polycythaemia vera?

A

1. True polycythaemia = ↑ red cell mass, ↑ Hb, ↑ RBC, ↑ packed cell volume

  • Primary causes: polycythaemia vera or familial polycythaemia
  • Secondary causes: appropriate ↑ in EPO (chronic hypoxia e.g. COPD; ↑ altitude) OR inappropriate ↑ in EPO (renal e.g. carcinoma; blood doping in athletes)

2. Pseudo/relative polycythaemia

  • Red cell mass NORMAL but plasma volume reduced
  • E.g. dehydration, burns, D&V, cigarette smoking
  • Gaisbock syndrome = in young male smokers w/ HTN

3. Polycythaemia vera

  • Associated w/ JAK 2 (V617F; exon 14) - diagnostic
  • Sx = hyperviscosity leads to headaches, thrombotic events, aquagenic pruritus (due to histamine release)
  • NOTE: 4Ps = plethoric (red nose), aquagenic pruritis, peptic ulcers, splenomegaly
  • Ix = ↑ Hb, ↑ Hct, ↑ WCC (neutrophils + basophils)
  • BMA = increase cellularity, loss of fat spaces, low serum EP
  • Mx: Venesection (Hct < 45%) + hydroxycarbamide (reduces platelet + Hb count) + aspirin to reduce risk of thrombosis
29
Q

SUMMARY CARD:

BONUS: what is idiopathic polycythaemia?

A
  • JAK2 mutation on exon 12 not exon 14 like JAK2 v617F
  • Increased RBCs but no increase in plasma cells
  • Better prognosis than PV
30
Q

SUMMARY CARD:

What are the RFs, Sx, Ix and Mx of myelofibrosis?

A
  • Fibrosis of bone marrow
  • Usually presents in elderly
  • Sx = pancytopenia, MASSIVE splenomegaly, weight loss, fever
  • BMA = dry tap (due to fibrosis!)
  • Blood film = “tear-drop” poikilocytes (dacrocytes)
  • Mx = splenectomy if causing obstruction + hydroxycarbamide if high platelets
  • SCT in younger patients
  • Poorer prognosis if severe anaemia (< 10g/dL), platelets < 100 x 10^9, splenomegaly
31
Q

SUMMARY CARD:

What are the RFs, Sx, Ix and Mx of essential thrombocytopenia?

A

Megakaryocytes dominate the BM

  • Presents in 30 y/o OR >55 y/o
  • 50% associated with JAK2 V617F
  • Sx = venous/arterial thrombosis + haemorrhage, “burning in the hands”
  • Bloods = platelets > 600 x 10^9 (needed for diagnosis)
  • Blood film = large platelets + megakaryocyte fragments
  • BMA = normal/increased BM cellularity
  • Mx = hydroxycarbamide; IFN-alpha (in younger patients + pregnancy as it is not teratogenic); anagrelide (reduces the formation of platelets from megakaryocytes)
32
Q

SUMMARY CARD:

What are features of myelodysplastic syndromes?
(e.g. RFs, Sx, Ix, cell defects, Mx?)

A

Group of disorders caused by INEFFECTIVE proliferation and differentiation of abnormally maturing myeloid stem cells

  • Seen in the elderly
  • All patients have < 20% blasts (otherwise would be AML)
  • Characterised by peripheral cytopenias + BM failure = infection, bleeding, fatigue
  • Risk of AML transformation
  • Bloods = pancytopenia
  • BMA = increased marrow cellularity
  • Defective RBCs = ringed sideroblasts (iron granules within red cell precursors)
  • Defective WBCs = Pelger-Huet (hyposegmented neutrophils – dumbbell)
  • Defective platelets = micromegakaryocytes, myelokathexis (multi-lobed nucleus of neutrophils held together by thin strands)
  • Mx = allogenic SCT + intensive chemo (most not suitable)
  • MORTALITY RULE: 1/3rd die from infection, 1/3rd from bleeding + 1/3rd acute leukaemia
33
Q

SUMMARY CARD:

What are the different subtypes of myelodysplastic syndromes and their features?

  1. Refractory cytopenia
  2. MDS w/5q deletion

1. Refractory anaemia, 2. Refractory cytopenia, 3. MDS w/5q deletion

A

1. Refractory anaemia (RA)

  • Anaemia but < 5% myeloblasts in the bone marrow
  • RA w/ ringed sideroblasts = anaemia but < 5% myeloblasts in BM + >15% precursors in BM + iron in mitochondria (ringed sideroblasts)
  • RA w/ excess blasts 1 (RAEB 1) = cytopenias w/ < 5% blasts + no Auer rods
  • NOTE: RAEB type 2 = 5-19% blasts +/- Auer rods

2. Refractory cytopenia (RC)

  • RC w/ multilineage dysplasia = cytopenia in 2+ cell lines + dysplasia in > 10% cells in 2+ cell lines
  • RC w/ multilineage dysplasia + ringed sideroblasts: as above but w/ 15% ringed sideroblasts

3. MDS w/5q deletion

  • Anaemia
  • Normal or increased platelets
  • Megakaryocytes w/ hypolobated nuclei + < 5% blasts
34
Q

SUMMARY CARD:

What is Multiple Myeloma?

What are the RFs, Sx, Ix / histology, Mx?

A

MM = neoplasia of plasma cells (effector B-cells produce antibodies –> IgG most common)

  • Clinical features = CRAB
  • Calcium high (thirst, stones, bones, abdominal groans and psychiatric moans)
  • Renal failure
  • Anaemia (+/- pancytopenia)
  • Bone pain (+/- osteoporosis, osteolytic lesions, pepper pot skull)
  • Hyperviscosity syndrome
  • >10% clonal plasma cells in BM + CRAB symptoms
  • Bloods = normal ALP (plasma cells suppress osteoblasts), ↑ ESR (v. high)
  • Urine electrophoresis = Bence Jones proteins (free light chains in urine) + increased specific gravity
  • Serum electrophoresis = dense M band in gamma region (IgG light chains)
  • Blood film = Rouleaux formation (stacked RBCs)
  • X-ray = raindrop skull
  • Staging = ISS
  • Mx = chemotherapy 4-6 cycles, then auto SCT when in remission, then maintenance low dose lenalidomide
  • Chemotherapy = Bortezomib +/- dexamethasone, cyclophosphamide or lenalidomide
35
Q

SUMMARY CARD:

What are the differentiating factors of the following paraproteinaemias:

  1. MGUS
  2. Smouldering MM
  3. Multiple myeloma

M-spike, BM, CRAB

A

1. Monoclonal gammopathy of unknown significance (MGUS)

  • Always precedes MM
  • < 30g/L serum M-spike
  • < 10% clonal plasma cells
  • NO CRAB Sx

2. Smouldering MM

  • > 30g/L serum M-spike
  • > 10% clonal plasma cells
  • NO CRAB Sx

3. Multiple Myeloma

  • > 30g/L serum M-spike OR serum free light chain ratio >100
  • Any clonal plasma cell population (automaically diagnostic if >60%)
  • 1+ CRAB Sx
36
Q

SUMMARY CARD:

What are features of the following paraproteinaemias:

  1. Waldenstrom’s Macroglobulinaemia
  2. Systemic amyloidosis

NOTE: paraproteinaemia = plasma cells releasing abnormal proteins

A

1. Waldenstrom’s Macroglobulinaemia

  • Lymphoplasmacytoid cells producing IgM that infiltrate LNs/BM
  • Seen in elderly men
  • Sx = malaise, weight loss, fatigue, hyperviscosity syndrome (e.g. visual disturbance, confusion)
  • Bence-Jones proteins +ve
  • BM biopsy = lymphoplasmacytoid lymphoma cells
  • Mx = plasmapheresis, cyclophosphamide

2. Systemic amyloidosis

  • AL amyloidosis = misfolded light chains, which deposit in tissues and cause issues
  • Sx = macroglossia, carpal tunnel, peripheral neuropathy
  • Can be in the presence of absence of MM
  • ABNORMAL kappa:lambda light chain ratio
  • Biopsy + congo red stain = apple green birifringence
37
Q

DISEASE:

What are some primary and secondary causes of true polycythaemia?

A

Primary = polycythaemia vera, familial polycythaemia

Secondary = appropriate ↑ in EPO (chronic hypoxia e.g. COPD; ↑ altitude) OR inappropriate ↑ in EPO (renal e.g. carcinoma; blood doping in athletes)

38
Q

DISEASE:

What is the primary mechanism behind pseudo/relative polycythaemia?

BONUS: what is Gaisbock syndrome?

A

Reduced plasma volume e.g. dehydration, burns, D&V, cigarette smoking

Gaisbock syndrome = cause of relative polycythaemia in young male smokers w/ HTN

39
Q

DISEASE:

Which genetic mutation is diagnostic for polycythaemia vera?

A

JAK2 V617F mutation (exon 14)

40
Q

DISEASE:

What are common symptoms in polycythaemia vera?

  • What would the bloods show? (WCC, Hb, Hct)
  • Mx?
A

4Ps = plethoric (red nose), aquagenic pruritis, peptic ulcers, splenomegaly

And hypervoscosity syndrome (e.g. headaches)

  • ↑ Hb, ↑ Hct, ↑ WCC (neutrophils + basophils)
  • Mx: Venesection (Hct < 45%) + hydroxycarbamide (reduces platelet + Hb count) + aspirin to reduce risk of thrombosis
41
Q

DISEASE:

20F -
skin itchiness after showers
Ringing in ears + abdo pain
Nose bleeds + blurred vision + headaches
O/E: splenomegaly

Bloods = ↑ Hb, ↑ Hct, ↑ WCC

  • Diagnosis?
A

polycythaemia vera

42
Q

DISEASE:

What characteristic cell type is seen on the blood film of a patient with myelofibrosis?

A

Teardrop poikilocytes (dacrocytes)

43
Q

DISEASE:

30F -
Sx = pancytopenia, MASSIVE splenomegaly, weight loss, fever

Blood film = tear drop poikilocytes

What would be seen on BMA?
Mx?
BONUS: what is associated w/ poorer prognosis?

A

BMA = dry tap (due to fibrosis!)

  • Mx = splenectomy if causing obstruction + hydroxycarbamide if high platelets
  • SCT in younger patients (better remission)
  • Poorer prognosis if severe anaemia (< 10g/dL), platelets < 100 x 10^9, splenomegaly
44
Q

DISEASE:

What is typically observed on the bone marrow biopsy of a patient with essential thrombocythemia?

BONUS: what platelet count is required?

A

Large platelets + increased megakaryocytes

Bloods = platelets > 600 x 10^9 (needed for diagnosis)

Mx = hydroxycarbamide; IFN-alpha (in younger patients + pregnancy as it is not teratogenic); anagrelide (reduces the formation of platelets from megakaryocytes)

45
Q

DISEASE:

What characterises myelodysplastic syndromes (MDS)?

A

Ineffective proliferation and differentiation of abnormally maturing myeloid stem cells

46
Q

DISEASE:

72M - fatigue, recurrent infections, and easy bruising
40 pack year Hx
Low Hb, low WCC, low platelets
Peripheral blood film = Pelger-Huet anomaly and ringed sideroblasts

  • Diagnosis?
A

myelodysplastic syndrome

47
Q

DISEASE:

What is seen in the BMA of myelodysplastic syndrome?

What are the defective cells in myelodysplastic syndrome (RBCs, WCCs, platelets)?

A

BMA = increased marrow cellularity

  • Defective RBCs = ringed sideroblasts (iron granules within red cell precursors)
  • Defective WBCs = Pelger-Huet (hyposegmented neutrophils – dumbbell)
  • Defective platelets = micromegakaryocytes, myelokathexis (multi-lobed nucleus of neutrophils held together by thin strands)

Therefore - bloods = pancytopenia

48
Q

DISEASE:

What is the ALP finding in multiple myeloma?

A

NORMAL (plasma cells suppress osteoblasts)

49
Q

DISEASE:

What is the characteristic finding in urine electrophoresis of patients with multiple myeloma?

What is the blood film finding in MM?

A

Urine = presence of Bence Jones proteins

Blood film = rouleaux formation

50
Q

DISEASE:

What precursor condition precedes multiple myeloma and is characterized by < 30g/L serum M-spike and < 10% clonal plasma cells?

A

MGUS (Monoclonal gammopathy of undetermined significance)

51
Q

DISEASE:

What is the term for the precursor condition to multiple myeloma characterized by >30g/L serum M-spike and >10% clonal plasma cells but absence of CRAB symptoms?

A

Smouldering MM

52
Q

DISEASE:

Which immunoglobulin is produced in Waldenstrom’s macroglobulinaemia?

BONUS: how is it diagnosed?

A

IgM

BONUS: BM biopsy = lymphoplasmacytoid lymphoma cells

53
Q

DISEASE:

Which condition is characterised by the deposition of misfolded light chains in tissues, leading to macroglossia and peripheral neuropathy?

A

Systemic amyloidosis

NOTE: ABNORMAL kappa:lambda light chain ratio

Year 5: Pathology (7 decks)

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