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HemOnc > HemOnc Mutations/Disorders > Flashcards

HemOnc Mutations/Disorders Flashcards

1
Q

Follicular Lymphoma

A

t(14;18) BCL2–> IgH resulting in BCL2 over expression

- small B- Cells, CD 20+

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2
Q

Mantle Cell Lymphoma

A

t(11;14) Cyclin D –> IgH

  • Elevated Cyclin D resulting more cells passing thru G1/S
  • Small B-Cells, CD20+
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3
Q

Marginal Zone Lymphoma

A
  • Secondary to an inflammatory state
  • MALTOMA
  • Small B-Cells CD20+
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4
Q

Burkitt Lymphoma

A

t(8;14) CMYC –> IgH

  • Intermediate B-Cells, CD20+
  • High mitotic rate, Starry Sky appearance
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5
Q

Diffuse Large B-Cell Lymphoma

A

t(3;14)- BCL6–> IgH, BCL6 overexpression

  • Can be sporadic or due to transformation from a low grade small B-Cell lymphoma (Richter Transformation)
  • Large B-cells in sheets
  • Diffuse, aggressive
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6
Q

Hodgkin Lymphoma

A

Reed Sternberg Cells

-Large B-Cells, CD15+, CD30+

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7
Q

T-Cell Lymphomas

A

NHLS

CD3+, CD4+

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8
Q

Angioimmunoblastic T-Cell Lymphoma

A
  • Arborizing blood vessels + CD3+/CD4+ tumor cells in a backgorund of dendritic cells with some B-Cells mixed in
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9
Q

Anaplastic large T-cell Lymphoma

A

t(2;5)- ALK1 over-expression

  • CD3+/CD4+ wreath-like cells
  • CD30+
  • curable w/ chemo
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10
Q

Cutaneous T-Cells Lymphoma (Mycosis Fungioides)

A

CD4+

  • Pautrier microabscesses
  • Sezary Syndrome- lympho. w/ cerebriform nuclei
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11
Q

Chronic Granulomatous Disese

A
  • NADPH oxidase defect resulting in poor superoxide dependent killing
  • neg. nitroblue tetrazolium test
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12
Q

Leukocyte Adhesion Deficiency

A
  • Auto rec. deficiency of beta integrin family
  • Increase WBC count w/ no infection
  • Lack the integrins needed for normal neutrophil and monocyte trafficking
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13
Q

Hyper IgE Syndrome (Job Syndrome)

A
  • Auto. Dominant: STAT activating Mutation
  • Auto. Recessive: Dock8 Mutation
    Triad: Eosinophila + eczema + recurrent sinopulmonary and cutaneous infections
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14
Q

Chediak-Higashi Syndrome

A
  • Auto. Recessive protein trafficking defect
  • Deficient phagolysosome formation
  • Giant granules in leukocytes
  • Albinism + defective primary hemostasis + periph neuropathy
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15
Q

Cyclic Neutrpenia

A

Auto. Dominant elastase deficiency

- 21 day neutrophil cycles

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16
Q

X-Linked Aggamaglobulinemia

A

X-linked mut. in Burton TK

- Complete lack of Ig due to dysfunction of B cell maturation

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17
Q

Hyper IgM Syndrome

A
  • Auto Rec. mut. of CD40 ligand on Th cells or CD40 rec. on B-cells
  • 2nd signal not delivered to Th cells during B-cell activation s/t no class switching happens
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18
Q

Common Variable Immunodeficiency

A
  • heterogenous group of diseases

- Low Ig b/c of B and T cell defects

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19
Q

SCID

A

X-linked mutation on the common gamma chain of the IL-receptor

  • Defects in cell-mediated and humoral immunity
  • Cytokine receptor defects
  • ADA(-), MHCII (-)
  • Sterile Isolation/BMT needed
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20
Q

DiGeorge

A
  • 22q11 microdeletion resulting in failure of the 3rd/4th pharyngeal pouches to form
  • Midline defects CATCH22
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21
Q

Wiscott-Aldrich

A

X -linked mutation in the WASP gene

- Thrombocytopenia + eczema + infections

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22
Q

Ataxia Telangiectasia

A

Auto. Recessive ATM gene mutation

- neurodegenerative disease

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23
Q

CML

A

t(9;22)- BCR-ABL fusion protein resulting in increased TK activity
- Tx: imatinib

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24
Q

Essential Thrombocythemia

A

JAK2 Kinase mutation

- neoplastic proliferation of mature myeloid cells esp. platelets, increased bleeding time/thrombosis risk

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25
Q

Polycythemia Vera

A

JAK2 Kinase Mutation

- Neoplastic proliferation of mature RBCs

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26
Q

Myelofibrosis

A

JAK2 Kinase Mutation (50%)

- Increased Megas Produce PDGF resulting in marrow fibrosis

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27
Q

Systemic Mastocytosis

A

C-Kit abnormalities resulting in abnormal mast cell proliferation

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28
Q

CLL

A

Neoplastic B-cell proliferation that co-express CD5 and CD20

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29
Q

Hairy Cell Leukemia

A

Neoplastic proliferation of B-Cells w/ cytoplasmic processes

  • TRAP(+), Lymphadenopathy (-)
  • Congregate in red pulp of spleen vs. white pulp
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30
Q

Adult T-Cell Leukemia

A

CD4+ T-Cells, caused by HTLV1

- Rash + lytic lesions + hypercalcemia

31
Q

B-ALL

A
  • TDT(+) Lymphoblasts
  • CD10+, CD19+, CD20+
  • t(12;2): good prognosis, children
  • t(9;22): poor prognosis, adults
32
Q

T-ALL

A

TDT(+) Lymphoblasts

  • CD10(-), CD2+-CD8+
  • Teen w/ mediastinal mass
33
Q

AML

A
  • Myeloblasts = MPO+
  • Auer rods
  • CD13+, CD33+
34
Q

APL

A

t(15;17)- RAR disruption blocks maturation, blasts accumulate
- ATRA

35
Q

Acute Monoblastic Leukemia

A

Monoblast proliferation

MPO-, invades gums

36
Q

Acute Megakaryoblastic Leukemia

A

Mega. Proliferation

MPO-, associated w/ down syndrome before age 5

37
Q

Secondary AML

A

Secondary to alkylating agents, radiotherapy and pre-existing dysplasia

38
Q

Multiple Myeloma

A

Malignant Plasma Cell Proliferation in BM

  • M-Spike (IgG)
  • Bence Jones Proteins + Rouleaux formations
39
Q

Waldenstrom’s Macroglobulinemia

A

B-Cell Lymphoma + monoclonal IgM production

- M-Spike

40
Q

DIC

A

Pathologic activation of the coagulation cascade secondary to a condition in which TF is activated and/or there’s endothelial damage

41
Q

TTP

A

ADAMTS13 Deficiency – vWF multimers

- Anemia + fever + CNS + Renal + thrombocytopenia

42
Q

HUS

A

E.Coli 0157H7 Verotoxin

- Damages endothelial cells causing platelet microthrombi

43
Q

Bernard Soulier Syndrome

A

Auto Recessive GPIB deficiency

- Large platelets, (-) Ristocetin

44
Q

vWF Disease

A

Low/Absent vWF

  • Type 1: AD, decreased vWF (70-80%)
  • Type 2: Dysfunctional vWF, AR
  • Type 3: deficient/absent vWF, AR
45
Q

Glanzmann’s Thrombasthenia

A

Auto Rec. GPIIB/IIIA deficiency

- severe mucocutaneous bleeding

46
Q

Hermansky Pudlak

A

Auto. Recessive absence of dense bodies in platelets

- Albinism + bleeding

47
Q

Hemophilia A

A

X-Linked Recessive Factor VIII def.

48
Q

Hemophilia B

A

X-Linked Recessive Factor IX def.

49
Q

Hemophilia C

A

Auto. Rec Factor XI def.

- Ashkenazi jews, mild bleeding

50
Q

Factor XIII Def.

A
  • Lack of fibrin cross-linking/clot stability

- Delayed bleeding

51
Q

Vit. K Def

A

Disrupts Vit. K dependent factors 2, 7, 9, 10, C, S

52
Q

Antiphospholipid Syndrome

A

Pathological anti-phospholipid Abs cross-react w/ normal tissues activating the coagulation cascade

  • Lupus anticoagulant = most common
  • Arterial/Venous thromboses (w/out risk factors)
  • Bening in children
53
Q

Purpura Fulminans

A

Severe protein C Deficiency

DIC

54
Q

APC Resistance/Factor V Leiden Mutation

A

Mut. G1591A: Arg 506 –> Gln in factor V w/ decreased APC cleavage

55
Q

Prothrombin 20210A mutation

A

Gly –> Ala in the 3’ UTR which increases mRNA stability of prothrombin

56
Q

ATIII Deficiency

A

ATIII is needed to inactivate thrombin

  • Heterozygous: increased thrombosis risk
  • Homozygous: fatal in utero, purpura fulminans
57
Q

Hereditary Spherocytosis

A

Auto. Dominant, Deficiency of vertical membrane stabilizing proteins spectrin, ankyrin, Pallidan and Band 3

58
Q

PNH

A

PIGA deficiency –> absent GPI –> CD55/59 deficiency –> C3 mediated lysis
- Acquired clonal stem cell defect

59
Q

G6PD Deficiency

A

X-linked recessive

- decreased T1/2 of G6PD makes RBC susceptible to oxidative damage

60
Q

Warm AIHA

A

IgG

  • Idiopathic (50%)
  • AI, SLE, CLL, Methyldopa, Fludaribine
61
Q

Cold Agglutinin Disease

A

IgM

- idiopathic, CLL, Mycoplasma Pneumoniae, Mono

62
Q

Paroxysmal Cold Hemoglobinuria

A

IgG Donath Landsteiner Abs

- Syphillis, Viral infections, mycoplasma

63
Q

Sicke Cell

A

Auto Rec. glu –> val on beta chain of Hb

64
Q

HbC

A

Auto Rec. glu –> Lys on beta chain of Hb

- HbC crystals

65
Q

HbSC

A
  • Intermediate severity between HbS and HbC

- increased retinal vascular lesions and avascular necrosis

66
Q

a-Thalassemia

A

Auto Rec. deletion of Hb-a chain(s)

- HbH, Hb Barts

67
Q

B-Thalassemia

A

Auto Rec. point mutation in pm or splice sites

- B0/B+, African and mediterranean pops

68
Q

Dyskeratosis Congenita

A

X-Linked Rec. mut in DKC1– defective telomere maintenance

- SC loss b/c of genomic instability– aplastic anemia by early adulthood, inherited AA

69
Q

Fanconi Anemia

A

Auto Rec. most common congenital AA

- Many mut. FANCD2 mut

70
Q

Schachman Dianmond Syndrome

A

Mut. on SBS gene on Chrom. 7 – increased apoptosis via FAS ligand
Triad: BM failure + pancreatic insufficiency + skeletal abnormalities

71
Q

Dimond Blackfan Anemia

A

Inherited pure red cell aplasia

  • Mut. in ribosomal protein subunit B19
  • Triphalangeal thumbs, cardiac septal defects
  • No RBC precursors, WBC normal
72
Q

ITP

A

Acute: viral (children)
Chronic: SLE, HIV, CLL, Lymphoma

73
Q

Retinoblastoma

A

Auto. Dominant Rb loss of function, most common childhood occular malignancy

HemOnc (2 decks)

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