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RC > Hemepath > Flashcards

Hemepath Flashcards

1
Q

Name myeloproliferative neoplasms (MPN)

A

CML
PV
PMF
ET
Mastocytosis

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2
Q

Molecular abnormalities in CML

A

BCR-ABL t(9;22)

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3
Q

Molecular abnormalities in PV

A

> 95% JAK V617F and exon 12 mutations

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4
Q

Molecular abnormalities in PMF

A

50-60% JAK2
24% CALR
8% MPL

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5
Q

Features of CML

A

Peripheral leukocytosis
Neutrophilic and myelocytic peaks

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6
Q

How is CML monitored?

A

Serial qRT-PCR for BCR-ABL
International Scale reporting
Major response: 3-log reduction
Complete response: 4.5-log reduction

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7
Q

Diagnostic features of PMF

A

Splenomegaly
Atypical megas
Varying degrees of reticulin fibrosis and/or collagen fibrosis
Elevated LDH, leuykoerythroblastosis
PMF mutations

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8
Q

Diagnostic features of ET

A

More than 50% asymptomatic at presentation with marked thrombocytosis
Rate of 1-2% thrombotic events per year

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9
Q

How is MDS subtyped?

A

MDS-EB1: low but present blast count
MDS-EB2: higher blast count, any case with Auer rods (33%
progress to AML)
MDS with isolated del(5q): has targeted therapy
MDS-MLD-RS: 2-3 lineages with dysplasia and >15% ring sideroblasts
MDS-MLD: 2-3 lineages with dysplasia
MDS-SLD-RS
MDS-SLD
MDWS-U

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10
Q

How is AML subtyped?

A

AML with recurrent genetic abnormalities
AML with myelodysplasia-related changes
Therapy-related myeloid neoplasms
AML, NOS

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11
Q

AML with recurrent genetic abnormalities subtypes with prognosis

A

t(8;21) RUNX1-RUNX1T1 - good
t(15;17) PML-RARA - good
inv(16) CBFB-MYH11 - good
inv(3) or t (3;3) GATA2 or MECOM - v bad

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12
Q

Cytogenetics of follicular lymphoma

A

t(14;18) IGH-BCL2
17p - associated with transformation to DLBCL
Additional BCL6 and MYC results in poor prognosis

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13
Q

Cytogenetics of Mantle cell lymphoma

A

t(11;14) CCND1-IGH
Tetraploidy in pleomorphic and blastoid variants
ATM mutations

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14
Q

Cytogenetics of MALT lymphoma

A

t(11;18) API2-MALT1: associated with resistance to H. pylori eradication therapy but not progression to DLBCL
t(14;18) AGH-MALT1

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15
Q

Cytogenetics of Splenic marginal zone lymphoma

A

7q del CDK6 gene dysregulation

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16
Q

Cytogenetics of Burkitt lymphoma

A

t(8;14) MYC-IGH
t(8;22) MYC-IGL
17p mutations TP53
11q alteration

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17
Q

Cytogenetics of DLBCL

A

t(14;18) IGH-BCL2 (20-30%)
Rearrangement of BCL6
Additional c-MYC results in poor prognosis

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18
Q

Cytogenetics of primary mediastinal large B cell lymphoma

A

Hyperdiploidy
BCL6 mutations

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19
Q

Cytogenetics of CLL/SLL

A

TP53 and IGHV somatic hypermutation

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20
Q

Molecular for LPL/WM

A

MYD88 mutation

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21
Q

Cytogenetics of B-ALL in adults

A

t(9;22) BCR-ABL

Poor prognosis,

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22
Q

Cytogenetics of B-ALL in kids

A

t(v; 11q23.3) KMT2A rearranged
t(12;21) ETV6-RUNX1
with hyperdiploidy

KMT2A - poor prognosis
ETV6-RUNX1 - v good prognosis
Hyperdiploidy - excellent prognosis

23
Q

Cytogenetics of Plasma cell myeloma

A

t(11;14) CCND1-IGH

24
Q

Diagnostic criteria for plasma cell myeloma

A

M protein in serum/urine
BM clonal plasmacytosis or plasmacytoma
At least one myeloma defining event or biomarker

25
Q

What is amyloid? What are the two major subgroups of amyloid?

A

B pleated sheet of protein deposited extracelluarly
Primary systemic amyloidosis (AL type)
Secondary amyloidosis (non-AL type)

26
Q

How is amyloid diagnosed?

A

H&E: amorphous eosinophilic material with cracking
Congo red: salmon pink and red-green birefringence
Sulphated alcian blue
Thioflavin T
Trichrome
Crystal Violet
Mass Spec: to subtype
Electron microscopy

27
Q

Types of systemic amyloidosis and associations

A

light chains: plasma cell dyscrasias
Transthyretin: Familial amyloidosis, senile cardiac amyloidosis
A Amyloidosis: inflammation associated, familial mediterranean fever
Heavy chains: systemic amyloidosis

28
Q

Types of hereditary amyloidosis

A

Fibrinogen alpha chain
Apolipoprotein AI
Apolipoprotein AII
Lysozyme

29
Q

Types of CNS amyloidosis and associations

A

Beta protein: AD, Down syndrome
Prion protein: CJD, fatal familial insomnia, kuru

30
Q

Types of localized amyloid and associations

A

Calcitonin: medullary thyroid carcinoma
Amylin: insulinoma
Atrial natriuretic factor amyloidosis: isolated atrial amyloidosis
Prolactin: pituitary amyloid
Keratin: cutaneous amyloidosis
Medin: aortic amyloidosis in the elderly

31
Q

Features of CLL/SLL

A

Indolent disease
Persistent lymphocytosis
Small lymphoid cells with proliferation centres
CD20+ CD5+ Bcl-2+ LEF1+
Bcl-6- CD10- CyclinD1-
Molecular: 50% del13q, 20% trisomy 12

32
Q

Features of Mantle cell lymphoma

A

Aggressive
Notched lymphoid cells, patchy sclerosis, pink histiocytes
CD20+ CD5+ BCl-2+ CyclinD1+ SOX11+
BCL-6- CD10-
Molecular: t(11;14) CCND1-IGH

33
Q

Features of Hairy cell lymphoma

A

Indolent/curable
Leukopenia/monocytopenia
Bean shaped nuclei, cytoplasmic projections, fried egg appearance
CD20+ 11C+ CD103+ CD25+ cyclinD1+/- AnnexinA1+
CD5- BCL6- CD10-
Molecular: BRAF V600E

34
Q

CD5 positive B-cell neoplasms

A

CLL/SLL
Mantle cell lymphoma

35
Q

CD10 positive B-cell neoplasms

A

Follicular
DLBCL
Burkitt

36
Q

CD5 and CD10 negative B-cell neoplasms

A

Lymphoplasmacytic
Marginal zone
Hairy cell

37
Q

DDx for follicular hyerplasia

A

Rheumatoid arthritis
SLE
Toxo
early HIV
Syphilis

38
Q

DDx Paracortical hyperplasia

A

Dermatopathic lymphadenopathy
EBV

39
Q

DDx Sinus pattern

A

Rosai-Dorfman
Local drainage of malignant areas

40
Q

Mixed pattern

A

Chronic/late HIV

41
Q

Major features of infectious lymphadenitides

A

Syphilis - follicular hyperplasia, periarteritis/arteritis, granulomas, plasmacytosis
EBV - paracortical expansion, moth eaten pattern, CD30+
HIV- 1) follicular and paracortical expansion
2) Lymphoid hyperplasia without germinal centres
3) lymphocyte depletion
Toxo - follicular hyperplasia, sinus B cell hyperplasia, microgranuloma, moth-eaten germinal centres
Bartonella - Follicular hyperplasia, B cell hyperplasia, microabscesses/granuloma, caseous neutrophilic necrosis

42
Q

Features of Kikuchi lymphadenitis

A

Young asian women
necrotizing granulomatous lymphadenitis
Paracortical necrosis with karyorrhectic debris without neutriophils

43
Q

Features of Rosai Dorfman

A

Nodal enlargement with expansion of sinuses with S100/CD68/CD4+ histiocytes without CD1a staining
Emperipolesis
Polyclonal plasmacytosis in medulla and association with IgG4

44
Q

Features of PTGC

A

Retained nodal architecture with follicular hyperplasia
Well demarcated macronodular structures with regressed GCs
Expanded mantle zones infiltrating into GCs by naive mantle B cells
Collections of epithelioid histiocytes surrounding macronodules
Lack of NLP-H cells

45
Q

Variants of Castleman disease

A

Check Mahe’s table

46
Q

Features of hyaline-vascular type Castleman lymphadenopathy

A

Atrophic GCs often with hyaline deposits
Onion skinning within mantle zone hyperplasia
Prominent interfollicular vascularity
Vessels penetrating into GCs forming lollipop lesions

47
Q

Define Richter transformation

A

CLL/SLL -> DLBCL

48
Q

Clinical features associated with Richter transformation

A

Marked increased LDH
Abrupt increase in lymphadenopathy/splenomegaly
Worsening cytopenias

49
Q

What molecular studies are done on CLL/SLL and why are they done?

A

IgHV mutational status
Unmutated - worse prognosis
Hypermutated - better prognosis

50
Q

CyclinD1 positive hemepath things

A

Mantle cell lymphoma
Plasma cell neoplasm
Splenic marginal zone lymphoma
Hairy cell leukemia
B-cell prolymphocytic leukemia

51
Q

Differentiate splenic MZL from MALT lymphoma and nodal MZL

A

SMZL: almost exclusive involvment of spleen, PB, and BM
Intrasinusoidal BM infiltrates
HepC association
Serum M protein
Villous lymphocytes on PBS
Possibility of cure by splenectomy

52
Q

What hematolymphoid neoplasms preferentially involve the spleen

A

SMZL
HCL, classic and variant types
MCL
Splenic diffuse red pulp small B-cell lymphoma
Chronic myeloproliferative neoplasms, particularly CML
Hepatosplenic T-cell lymphoma

53
Q

MALT lymphomas and associated infectious organisms

A

Skin associated MALT: Borrelia burgdorferi
Gastric MALT: H pylori
Ocular adnexa: Chlamjydia psittaci
Immunoproliferative small intestinal disease: Campylobacter jejuni

RC (20 decks)

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