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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
# 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)
**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
# 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?
`ALL` **Chemotherapy** - girls Tx for 2 years, boys 3 yrs due to blast cells in testes
27
# SUMMARY CARD: What are the myeloproliferative disorders and how can they be categorised?
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
# 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?
**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 = `p`lethoric (red nose), aquagenic `p`ruritis, `p`eptic ulcers, s`p`lenomegaly * 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
# SUMMARY CARD: BONUS: what is idiopathic polycythaemia?
* JAK2 mutation on exon 12 not exon 14 like JAK2 v617F * Increased RBCs but no increase in plasma cells * Better prognosis than PV
30
# SUMMARY CARD: What are the RFs, Sx, Ix and Mx of myelofibrosis?
* 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
# SUMMARY CARD: What are the RFs, Sx, Ix and Mx of essential thrombocytopenia?
`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
# SUMMARY CARD: What are features of myelodysplastic syndromes? (e.g. RFs, Sx, Ix, cell defects, Mx?)
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
# SUMMARY CARD: What are the different subtypes of myelodysplastic syndromes and their features? 2. Refractory cytopenia 3. MDS w/5q deletion | 1. Refractory anaemia, 2. Refractory cytopenia, 3. MDS w/5q deletion
**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
# SUMMARY CARD: What is Multiple Myeloma? What are the RFs, Sx, Ix / histology, Mx?
MM = neoplasia of `plasma cells` (effector B-cells produce antibodies --> IgG most common) * **Clinical features** = `CRAB` * `C`alcium high (thirst, stones, bones, abdominal groans and psychiatric moans) * `R`enal failure * `A`naemia (+/- pancytopenia) * `B`one 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
# SUMMARY CARD: What are the differentiating factors of the following **paraproteinaemias**: 1. MGUS 2. Smouldering MM 3. Multiple myeloma | M-spike, BM, CRAB
**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
# SUMMARY CARD: What are features of the following paraproteinaemias: 1. Waldenstrom's Macroglobulinaemia 2. Systemic amyloidosis NOTE: paraproteinaemia = plasma cells releasing abnormal proteins
**1. Waldenstro`m`'s Macroglobulinaemia** * Lymphoplasmacytoid cells producing Ig`M` 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
# DISEASE: What are some primary and secondary causes of true polycythaemia?
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
# DISEASE: What is the primary mechanism behind pseudo/relative polycythaemia? BONUS: what is Gaisbock syndrome?
`Reduced plasma volume` e.g. dehydration, burns, D&V, cigarette smoking **Gaisbock syndrome** = cause of relative polycythaemia in young male smokers w/ HTN
39
# DISEASE: Which genetic mutation is diagnostic for polycythaemia vera?
JAK2 V617F mutation (exon 14)
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# DISEASE: What are common symptoms in polycythaemia vera? * What would the bloods show? (WCC, Hb, Hct) * Mx?
**4Ps** = `p`lethoric (red nose), **aquagenic** `p`ruritis, `p`eptic ulcers, s`p`lenomegaly 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
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# DISEASE: 20F - **skin itchiness after showers** Ringing in ears + abdo pain Nose bleeds + blurred vision + headaches O/E: **splenomegaly** Bloods = `↑ Hb, ↑ Hct, ↑ WCC` * Diagnosis?
polycythaemia vera
42
# DISEASE: What characteristic cell type is seen on the blood film of a patient with myelofibrosis?
`Teardrop poikilocytes (dacrocytes)`
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# 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?
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
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# DISEASE: What is typically observed on the bone marrow biopsy of a patient with **essential thrombocythemia**? BONUS: what platelet count is required?
Large platelets + increased `megakaryocytes` Bloods = `platelets > 600 x 10^9` (needed for diagnosis) Mx = **hydroxycarbamide**; **IFN-alph**a (in younger patients + pregnancy as it is not teratogenic); **anagrelide** (reduces the formation of platelets from megakaryocytes)
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# DISEASE: What characterises myelodysplastic syndromes (MDS)?
Ineffective proliferation and differentiation of abnormally maturing myeloid stem cells
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# 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?
myelodysplastic syndrome
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# DISEASE: What is seen in the BMA of myelodysplastic syndrome? What are the defective cells in myelodysplastic syndrome (RBCs, WCCs, platelets)?
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
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# DISEASE: What is the ALP finding in multiple myeloma?
NORMAL (plasma cells suppress osteoblasts)
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# DISEASE: What is the characteristic finding in urine electrophoresis of patients with multiple myeloma? What is the blood film finding in MM?
Urine = presence of Bence Jones proteins Blood film = rouleaux formation
50
# DISEASE: What precursor condition precedes multiple myeloma and is characterized by < 30g/L serum M-spike and < 10% clonal plasma cells?
MGUS (Monoclonal gammopathy of undetermined significance)
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# 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?
Smouldering MM
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# DISEASE: Which immunoglobulin is produced in Waldenstrom's macroglobulinaemia? BONUS: how is it diagnosed?
IgM BONUS: BM biopsy = lymphoplasmacytoid lymphoma cells
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# DISEASE: Which condition is characterised by the deposition of misfolded light chains in tissues, leading to macroglossia and peripheral neuropathy?
Systemic amyloidosis NOTE: `ABNORMAL` kappa:lambda light chain ratio

Year 5: Pathology (7 decks)

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