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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
What is amyloid? What are the two major subgroups of amyloid?
B pleated sheet of protein deposited extracelluarly Primary systemic amyloidosis (AL type) Secondary amyloidosis (non-AL type)
26
How is amyloid diagnosed?
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
Types of systemic amyloidosis and associations
light chains: plasma cell dyscrasias Transthyretin: Familial amyloidosis, senile cardiac amyloidosis A Amyloidosis: inflammation associated, familial mediterranean fever Heavy chains: systemic amyloidosis
28
Types of hereditary amyloidosis
Fibrinogen alpha chain Apolipoprotein AI Apolipoprotein AII Lysozyme
29
Types of CNS amyloidosis and associations
Beta protein: AD, Down syndrome Prion protein: CJD, fatal familial insomnia, kuru
30
Types of localized amyloid and associations
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
Features of CLL/SLL
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
Features of Mantle cell lymphoma
Aggressive Notched lymphoid cells, patchy sclerosis, pink histiocytes CD20+ CD5+ BCl-2+ CyclinD1+ SOX11+ BCL-6- CD10- Molecular: t(11;14) CCND1-IGH
33
Features of Hairy cell lymphoma
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
CD5 positive B-cell neoplasms
CLL/SLL Mantle cell lymphoma
35
CD10 positive B-cell neoplasms
Follicular DLBCL Burkitt
36
CD5 and CD10 negative B-cell neoplasms
Lymphoplasmacytic Marginal zone Hairy cell
37
DDx for follicular hyerplasia
Rheumatoid arthritis SLE Toxo early HIV Syphilis
38
DDx Paracortical hyperplasia
Dermatopathic lymphadenopathy EBV
39
DDx Sinus pattern
Rosai-Dorfman Local drainage of malignant areas
40
Mixed pattern
Chronic/late HIV
41
Major features of infectious lymphadenitides
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
Features of Kikuchi lymphadenitis
Young asian women necrotizing granulomatous lymphadenitis Paracortical necrosis with karyorrhectic debris without neutriophils
43
Features of Rosai Dorfman
Nodal enlargement with expansion of sinuses with S100/CD68/CD4+ histiocytes without CD1a staining Emperipolesis Polyclonal plasmacytosis in medulla and association with IgG4
44
Features of PTGC
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
Variants of Castleman disease
Check Mahe's table
46
Features of hyaline-vascular type Castleman lymphadenopathy
Atrophic GCs often with hyaline deposits Onion skinning within mantle zone hyperplasia Prominent interfollicular vascularity Vessels penetrating into GCs forming lollipop lesions
47
Define Richter transformation
CLL/SLL -> DLBCL
48
Clinical features associated with Richter transformation
Marked increased LDH Abrupt increase in lymphadenopathy/splenomegaly Worsening cytopenias
49
What molecular studies are done on CLL/SLL and why are they done?
IgHV mutational status Unmutated - worse prognosis Hypermutated - better prognosis
50
CyclinD1 positive hemepath things
Mantle cell lymphoma Plasma cell neoplasm Splenic marginal zone lymphoma Hairy cell leukemia B-cell prolymphocytic leukemia
51
Differentiate splenic MZL from MALT lymphoma and nodal MZL
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
What hematolymphoid neoplasms preferentially involve the spleen
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
MALT lymphomas and associated infectious organisms
Skin associated MALT: Borrelia burgdorferi Gastric MALT: H pylori Ocular adnexa: Chlamjydia psittaci Immunoproliferative small intestinal disease: Campylobacter jejuni
54

RC (20 decks)

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