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Boards 2 > Heme Onc > Flashcards

Heme Onc Flashcards

1
Q

Alpha Thal

A

Defect in alpha chain that leads to decreased production

  • 4 in total, 4 mutated leads to Hb Bartz and fetal hydrops
  • 3 mutated leads to B4 tetramers of HbH
  • Cis mutations on same chromosome are more common in asians and transmutations are more common in blacks
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2
Q

Beta Thal

A
  • Splicing or promotor error leads to altered expression level
  • Minor usually presents with a slight increase in HbA2 (D) and major usually presents with profound anemia and increased fetal hemoglobin
  • Can get secondary hemochromatosis and treat with difuimox
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3
Q

Lead Poisoning

A
  • Leads to a sideroblatic anemia with increased Fe deposits in mitochondria
  • Inhibits Ferrocheltase
  • Basophilic stippling occurs because of dysfunction of An enzyme that degrades ribososmes, basophilic stipplic is ribosomal RNA
  • Dementia, belly pain, decreased IQ
  • Wrist drop and neurologic signs
  • Treat with succimer, EDTA, dimercaperol
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4
Q

Sideroblastic anemia

A
  • X linked is defect in ALA dehydratase which leads to decreased heme synthesis in mitochondria leading to Fe accumulation and sideroblastic anemia
  • Can also be seen with B6 deficency as B6 is a necessary cofactor for HLA-D
  • Decreased B6 from INH, Alcohol, dietary
  • Treatment is B6
  • There will be elevated Fe and Ferretin with normal TIBC
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5
Q

Folate Deficency

A

Caused by diet, MTX, phenytoin

  • Megaloblastic with pancytopenia, no neurologic complaints
  • Increased homocysteine with normal methylmalonic acid
  • Glossitis
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6
Q

B12

A

Pernicous anemia, D lattum from fish, Crohns, PPI?

  • Leads to megaloblastic anemia with neurologic dysfunction
  • Elevated homocysteine and methylmalonic acid
  • Involves posterior columns, spinocerebellar, and corticospinal
  • May also cause dementia
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7
Q

Orotic Aciduri

A
  • Impaired UDP synthase, backs up into urea cycle (Carbamoyl P)
  • Doesn’t correct with Folate and B12
  • Give uridine to bypass enzyme
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8
Q

Macrocytosis without megaloblastosis

A

Think of liver or alcoholic

-Can also be due to drugs which cause reticulocytosis: 5-FU, AZT, hydroxyurea

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9
Q

Intravascular

A

Intrinsic red cell defect and lysis in vasculature, decreased haptoglobin and increased LDH
-PNH and mechanical valve

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10
Q

Extravascular

A
  • Most commonly in spleen, stuctural or functional defect

- UCB emia, increased LDH, Jaundice

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11
Q

Anemia of chronic disease

A

Mediated by cytokines IL-6 that increases hepcidin from liver which is master regulator

  • Also reduces EPO
  • Increased ferretin with decreaed Fe and TIBC, sequester in tissues
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12
Q

Aplastic

A

Viral

  • Drugs, Chemo, Radiation
  • Fanconi’s syndrome (DNA repair)
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13
Q

Spherocytosis

A
  • Defect in anhyrin or spectrin leads to osmotic fragility (band 3)
  • increased MCHC
  • Overactive spleen that consumes RBC leadin to elevated UCB
  • Aplastic crisis
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14
Q

G6PD

A

a

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15
Q

Pyruvate Kinase

A

Defect in glycolysis (PEP synthesis) leads to decreased ATP and fragility of red cells
-Hemolytic disease in newborns is common presentation

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16
Q

HbC

A

Milder than SS

-Add lysine instead of valine

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17
Q

PNH

A
  • GPI to DAF leads to hemolysis comlpement mediated
  • Increased risk of venous thromboembolus
  • PE or Budd Chiari
  • Diagnose with flow
  • Is a mutation post zygotic, in HSPC
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18
Q

Sickle Cell

A 
Gluatmine to valine
-Sickling at low Oxygen tensions
-Splenic sequestration crisis: Massive autoinfarcion of spleen leading to rapid decrease in RBC number
-EMH
Renal papillaryu necrosis
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19
Q

Warm Hemolytic Anemia

A
  • IgG
  • CLL, Lupus, Methyldopa
  • Haptens like penicilin
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20
Q

Cold Hemolytic anemia

A

-CLL, M Pneumonia, Hepatitis, mono

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21
Q

Microangiopathic

A

HUS, TTP, DIC, SLE, Malignant HTN

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22
Q

OCP changes to Fe profile

A

-Increase binding globulins leading to decreased increased ferretin

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23
Q

AIP

A
  • Defect in porphobilinogen deaminase, or uroporphyrin synthase
  • Leads to increase in uroporphyrin and porphobilinogen
  • Psychosis and red urine
  • Brought on by drugs (phenobarbitol)
  • AD in cytosol
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24
Q

PCT

A
  • Skin hypersensitivity

- Uroporphyrin deaminase leads to tea colored urine and skin sens

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25
Q

Hemophilia A/B

A

defect in intrinsic cascade, factors 8 and 9

  • Hemarthroses and increased PTT
  • Significant bleeding
  • XR
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26
Q

Vitamin K deficency

A

-Longterm antibiotics or pancreatic/malabsorption

27
Q

Platelt defects

A

-Lead to purpura and mucosal bleeding (epistaxis)

28
Q

Bernard Soulier

A

GP 1b impaired adhesion, increased BT

-Decreased platelt count

29
Q

Glanzmans

A

GP2b3a impaired aggregation, increased BT. Normal platelt count

30
Q

ITP

A

Antibody to Gp2b3a leading to consumption of platelts by spleen

  • Leads to thrombocytopenia and increased megaK
  • Bleeding time
  • Commonly young viral
31
Q

TTP

A

Defect is ADAMSTS13, which is MMP that cleaves vWF multimers

  • Leads to increased vWF multimers that elads to abberant clotting and platelet consumpton
  • microangiopathic hemolytic anemia and decreased palteltes
  • Neurologic and renal symptoms
32
Q

vWF defect

A

AD decrease in vWF number or function
-Leads to increased bleeding time
Dx with risotcetin assay
-Treat with DDVAP to increase release from WP bodies
-vWF also protects factor 8, so depending on severity, can decrease factor 8 levels and increase PTT
-Most common inherited bleeding disorder AD

33
Q

Factor V lieden

A

Site on factor 5 can’t be cleaved by protein C

  • Activated by thrombomodulin and factor S
  • Hypercoagulable
34
Q

PT

A

-Noncoding region increases expression leading to hypercoag

35
Q

ATIII

A
  • Decreased levels will lead to hypercoag

- Blunted PT response to heparin

36
Q

C/S def

A

Leads to hypercoag, can have skin necrosis with warfarin administration

37
Q

Transfusions

A

-Can induce hyperkalemia due to lysed RBC or hypocalcemia due to citrate

38
Q

Leukemoid Vs Leukemia

A
  • Leukemoid will have classic left shift and will have luekocyte acid phosphatase
  • Leukemia will not have LAP
39
Q

Hodgkins

A
  • Reed Sternberg cells CD15 and 30
  • Involves a single group of nodes
  • Constiutional B symptoms
  • Greater than 50% arise in the context of EBV
40
Q

Nonhodgkins

A
  • Multiple nodes throughout body, don’t involve Reed Sternberg cells,
  • Commonly effect immunosuppressed
  • majoirty are B cells and are monocellular
41
Q

Reed Sternberg

A
  • Larg bilobed/binucleate cells, positive for CD 15 and 30

- Secrete cytokines and attract a pleimorphic cell mixture

42
Q

Hodgkins

A
  • Younger and older
  • Multiple cell type
  • Nodular sclerosing is the most common and has large bands of fibrosus throughout nodes
  • Lymphocyte mixed or depleted is a worse prognosis
43
Q

Follicular Lymphoma

A

14: 18 translocation
- 14 is Ig and 18 is BCL-2
- LEads to lack of death, large germinal celnter appearing B cells that lack macrophages, can turn into DLBCL
- Most common

44
Q

DLBCL

A
  • Loss of normal cellular architecture and germinal center morphology
  • USually the end of the road for other cancers
  • Aggressive and worse prognosis
45
Q

Burkitts

A
  • t8:14, puts C-Myc onto IgHC gene region
  • LEads to massive growth (Jaw/ABdomen) characterized by lots of macrophages and cellular death in starry sky backgound
  • Is associated with EBV (Like hodgkins)
46
Q

Mantle

A

t11: 14

- Move cyclin D onto promotoer leads to overexpressiona dn increased rate of entry into S phase

47
Q

Marginal Zone

A
  • Occurs in the context of chronic inflammation

- H Pylori, Sjogrens, Hashimotos

48
Q

Adult T Cell

A

Usually has cutaneous involvemtn

-Associated with HTLV-1 and seen most commonly in asians and carribeans

49
Q

Szesary/Mycosis Fungoides

A

T cell lymphoma that has extensive skin involvment

  • Normally can be treated
  • Sezeary when enters blood and mycoces when confined to skin
50
Q

Multiple Myeloma

A
  • Leukemia of plasma cells that have a characteritic clock faced nuclei with nucleoli (Produce large ammounts of Ig) and have cytoplasmic inclusions of Ig
  • Characterized by M spike of monoclonal Ig on SPEP
  • Light chains are excreted into the blood in excess and cause AL amyloid throughout body and especially in kidney. Nephrotic syndrome that may progress to renal failure
  • Lytic bone lesions lead to hypercalcemia
  • Anemia and pancytopenia due to overdrowding of marrow space
  • Increase susceptibility to infection, and is most common cause of death
  • Elevated Ig secretion also puts a lot of positive charge and protein into the blodd that breaks the zeta potential between RBC and leads to roleaux formation
  • Hyperviscosity also common
51
Q

Waldenstroms

A
  • M spike of IgM, lack of lytic lesions and other signs

- Increaed hyperviscosity syndrome

52
Q

MGUS

A

-ELevated M spike that is IgG or IgA that does not have other findings consistent with MM

53
Q

Leukemia

A
  • INcrease in wWBC in the blood
  • Major problem is a loss of normal marrow function leading to anemia and immunodeficency
  • THere will also be hyperviscosity and decrease platelets that can lead to hemorrhage
  • Acute is greater than 20 percent blasts
  • THere will be no increase in LAP which is how you distingush from leukemoud reactin
  • Also look for a monoclonal appearance of Differential
54
Q

ALL

A
  • Leukemia of immature B and T cells, B cells is most common
  • Can be identigied with tdt positivity and CALLA
  • Commonly seen in downs syndrome
  • T ALL may present as a mediastinal mass in teenagers due to involvment of thymus
  • If cells enter CNS and testes treatment becomes more difficult becase drugs can’t cross BBB
55
Q

SLL/CLL

A
  • Mature naive lymphocytes that are enter blood or nodes
  • SLL has more nodal involvment while CLL has more blood involvment
  • SLL may progress to DLBCL
  • CLL is noticed by the appearance of smudge cells on a smear
  • Increase risk of warm and cold agglutanins due to naive mature cells
  • hypogammaglobulinemia and increased risk of infection
  • Seen very comonly in older patients, and is indolent unless transformes to other kinds.
56
Q

Hairy Cell

A
  • TRAP positive mature B lymphocytes
  • HAve characteristic cytoplasmic extensions
  • Treat with clarbarapine, which is an adenosine analog that leads to toxic accumulation and cell death
  • Can get a dry tap on marrow aspirate and will see increased EMH and HSM
57
Q

AML

A
  • Acute leukemia with an increased number of blasts, greater than 20 percent
  • Many subtypes and distinguished with presence of auer rods which are crystalized MPO, if these cells are ruptured can activate compliment cascade and leads to DIC
  • M3 or APL is famous, has 15,17 translocation involving the ATRA receptor. Immautre cells that if treated with ATRA will mature and can be cured
  • Can be a consequence of myelodysplastic syndromes
  • Monocytes commonly infiltrate gums
58
Q

CML

A
  • Characterized by 9:22 translocation of BCR to ABL
  • Treated with imatinib inhibitor of ABL
  • Type of myelodysplasia, distinguish from a leukemoid reaction using LAP and also with the presence of basophils and other types of cells
  • Immunodeficecny is the biggest risk
  • Also can transform to AML
59
Q

Langerhans Cell histiocytosis

A
  • Langerhans cell tumor,
  • involves skin and characteristic bierbeck granules
  • S-100 positive (neural crest marker) also CD1a positive
  • also can have lytic bone lesions
60
Q

Myelodysplasia

A
  • Characterized by JAK-2 mutations

- Increase in all cells and the disease is named for the most prominent one

61
Q

Polycythemia Vera

A
  • Myelodysplasia of RBC leads to increase in hematocrit
  • OFten presents as pruritis folling shower, increased mast cell activation
  • Hyperviscosity syndromes with blurry visiona dn headache, can also get budd chiari
  • JAK 2 mutation is characteristic, needs phlebtemy
62
Q

THrombocytosis

A
  • Seen commonly in downs patients
  • Is myelodysplasia of thrombocytes (MEgaK)
  • Generaly has JAK-2 mutation
  • Rarely transforms to malognancy becaue thrombocytes are anucleate
63
Q

Myelofibrosis

A
  • Burnout of marrow, fibrosis leads to teardrop cells

- See increased levels of EMH and HSM

64
Q

PV causes

A
  • Loss of volume leads to concentration of RBC
  • PHysiologic adaptations to low oxygen (heart failure, lung diease, shunts)
  • EPO producing tumors: RCC, HCC, VHL, Hydronephrosis and renal disease, wilms

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