Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

ASCO Boards > Hematology > Flashcards

Hematology Flashcards

1
Q

crizanlizumab MOA, route of admin, goal of treatment

A

p-selectin binding reduces adhesion of sickles to endothelium

IV therapy

reduce pain crises

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

deficiency in which enzyme causes methemoglobinemia and why cyanosis

A

cytochrome b5 reductase, reduced ability to turn methemoglobin to normal oxyhemoglobin, holds on to o2 and doesn’t release it to the tissues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

which hemoglobinopathy is associated with methemoglobinemia and why is this important to know

A

HbM or H, cannot reduce with methylene blue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

gene, function and inheritance for pyruvate kinase (PK) deficiency

A

PKLR gene, ATP production for RBC, AR inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

treatment for PK deficiency

A

Mitapivat, PK enzyme activator raises RBC count and reduces transfusions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Hemolytic anemia with Leg cramps, pain with exercise, motor regression, cerebellar tumors, mutation and inheritance

A

Phosphoglycerate kinase deficiency, PGK-1, xlinked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

labs and smear for G6PD

A

blister cells, heinz bodies, acute hemolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

shock and acute hemoglobin drop in sickle cell disease

A

acute splenic sequestration crisis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

goal of hbF on hydrea

A

hgf >20

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MOA voxeletor, admin route and goal of treatment

A

Increases affinity of hgb for oxygen and stabilizes cell to prevent sickling, oral drug, goal to increase hgb levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

moa L-glutamine

A

anti-oxidant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

blood smear with mild sickling, crystals with RBC with distorted shapes, target cells, microspherocytes, elevated MCHC

A

SC disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

brilliant cresyl blue stain with golf ball inclusion

A

HgH disease (severe alpha thal)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hb Constant Spring, the severity of anemia

A

non-deletional alpha thalessemia due to abn elongation/instability of the alpha chain, more sever than other alpha that variants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

alpha thal trait ( ), ( ); symptoms

A

(–,a), (–,a)
mild microcytic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

alpha thal carrier ( ), ( ); symptoms

A

(–, a), (a,a)
Slightly low MCV and MCH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

beta thal minor or trait ( ), ( )

A

b/b+ or b0/b
Only one gene has a mutation
Microcytic anemia, HgA2>3.5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

beta thal intermedia ( ), ( ); symptoms

A

Beta intermedia is b+/b+ or b0/b+
Microcytic anemia, variable levels, occasional transfusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

beta thal major ( ), ( ); symptoms

A

Transfusion dependent
Severe anemia, microcytosis, high output heart failure, bone abnormalities, HSM, renal enlargement, iron overload

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

MOA of luspatercept

A

inhibits TGFbeta which increases differentiation and proliferation of erythroid precursors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Hb Lepore

A

two normal alpha chains and two delta fusion chains due to gene cross over. Functional hgb that moves like HgS on electrophoresis.

Hets are like beta that minor, homozygotes with more severe beta that major phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

South asian ovalocytosis mutation and inheritance, smear

A

misfolding of band 3, AD, oval shaped RBC with hemolytic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

abetalipoproteinemia symptoms and smear

A

cannot absorb fat; steatorrhea, retinitis pigmentosa, neurologic deficits, FTT; vitamin E deficiency causes acanthocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

sideroblastic anemia, congenital; mutation and treatment

A

ALAS2 deficiency, poor heme synthesis with iron deposition in mitochondria, treat with high doses of vitamin B6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

smear with massive basophilic stippling and hemolytic anemia

A

hereditary pyrimidine-5-nucleosidease deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Osler-webber-rendu findings and mutation

A

telangiectasias, epistaxis, AVMs, mutas in SMAD4, ACVRL1, ENG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

reduced inhibitor development in hemophilia if this type of factor is used

A

plasma derrived with vwf rather than recomb,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

when to test for VWF levels in woman

A

first 5 days of the menstrual cycle due to least estrogen effect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Heydes sydrome

A

acquired type IIA VWF from aortic stenosis shearing, AVM bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

emicizumab MOA and use

A

bridges IXa and X to restore function to VIII; only for prophylactic (with or without inhibitor) not for active bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

factor XIII deficiency lab pattern and role of this factor and treatment

A

elevation of both PT and PTT, stabilizes fibrin at the end of the cascade, treat with fibrogammin, cryo or ffp

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

young woman with thrombosis in common iliac vein and why

A

may-thurner syndrome, compression by R common iliac artery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

axillary subclavian thrombosis in repetitive injury/activity

A

paget-schrooetter syndrome, thoracic outlet compression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

OCPs and clots why

A

decreases antithrombin III, protein S, increases factor levels and platelet activity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

patient with thrombosis with marfanoid appearance, seizures, myopia, iridonesis, subluxation of the lens, developmental delay and short stature; treatment

A

homocysteinuria, treat with B6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

pancytopenia, macrocytosis, normal B12 but high homocysteine and MMA levels, name the disorder

A

transcobalmin II deficiency; cannot move B12 to cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

juvenille hemochromatosis age of onset, gene and inheritance

A

age <30, AR, HJV gene, severe clinical presentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

ferroportin mutation unique features in lab and biopsy, gene and inheritance

A

FPN-1 mutation, AD

cannot shuttle iron to cells which results in high ferritin but normal to reduced transferritin saturation and mild anemia

Liver biopsy with iron in kupffer cells rather than hepatocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

TFR2 hemochromatosis, mechanism, severity, inheritance, age of onset

A

increased intestinal absorption, AR TFR2 mutation, young <30, less severe than HJV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

cause of porphyria; treat porphyria and MOA

A

Cause is enzyme error in heme synthesis results in accumulation of toxic heme byproducts

hemin= suppresses ALAS synthesis to reduce ALA and PBG production

givosiran= siRNA against 5-aminovulinic acid synthase 1 to decrease ALA and PBG production accumulation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

treatment for erythropoietic protoporphyria (EPP)

A

afamelanotide= alpha melanocyte stimulating hormone protects against oxidant damage to reduce skin rash and pain with sun exposure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

disease with chronic blistering photosensitivity and associated causes, treatment

A

porphyria cutanea tarda due to familial UROD mutation, hepatitis C, hepatic iron overload in deficiency of uroporphyrinogen decarboxylase
-treat underlying disease, phlebotomy, hydroxychloroquine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

what is hereditary aceruloplasminemia and what is diagnostic lab

A

ceruloplasmin defect which causes poor iron transportation

high ferritin but normal transferrin sat and has neurologic deficits

low serum copper, low serum iron, anemia

need iron chelation therapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

iron refractory iron deficiency anemia, labs, cause and treatment

A

impaired oral iron absorption and utilization due to mutations in TMPRSS6 genes

normal ferritin, low saturation, microcytic anemia

IV iron partial responses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

atransferrinemia labs, cause, mutation, treatment

A

AR absence of transferrin, microcytic anemia with elevated ferritin but low transferrin levels, treated with FFP to replace the transferrin protein to allow iron to reach RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

iron chelation 3 drugs IV verus oral, which one in renal disease but can cause what concerning side effect

A

deferoxamine is IV, deferiprone and deferasirox are oral, deferiprone is used in renal disease but can cause agranulocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

inheritance and mutations that cause hereditary eliptocytosis

A

alpha-spectin, beta-spectin, band-3, protein 4.1, glycophorin C, autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

inheritance and mutations that cause hereditary spherocytosis, helpful lab finding, diagnostic test

A

spectrin, ankyrin, band 3

elevated MCHC >36

osmotic fragility test, eosin-5-maleimide test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

extreme microcytosis MCV 30-50 with severe neonatal jaundice

A

hereditary pyropoikilocytosis, most severe form of HE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

smear and coombs in warm AIHA, treatment

A

spherocytes, IgG+ C3+/- or both

steroids +/- rituximab

51
Q

smear and coombs in cold AIHA, what are underlying causes, treatment

A

agglutination, C3+ (IgG neg)- cleared in liver after bound by IgM

lymphoma, lymphoproliferative disorder, autoimmune disorders, infections

warm RBCs
if severe: treat with plasmapheresis or sutimlimab (C1s), IVIG

52
Q

sutimlimab MOA and treats what disease

A

cold AIHA/cold agglutinin, C1s target to reduce compliment activation

53
Q

paroxsysmal cold hemoglobinuria, age, symptoms, test, coombs, treatment

A

children, viral infection followed by cold causes back pain, weakness, nausea, fever, dark urine; C3+ (IgG neg), positive donath-landsteiner test

treat with cytoxan, rituxan or steroids

54
Q

mechanism of anemia in lead poisoning, smear

A

reduced heme synthesis due to pyrimidine-5-nucleosidase deficiency which causes chronic hemolysis, basophilic stippling and accumulation of nucleotides in RBCs

55
Q

recurrent fever, inflammation of skin, recurrent osteomyelitis, sweet syndrome, anemia; gene

A

majeed syndrome, congenital dyserythropoetic anemia, LPIN2 gene

56
Q

transient erythroblastopenia of childhood; labs, treatment

A

pure red cell aplasia in children often after viral infection, 1-2 months duration then complete recovery; anemia with normal MCV, low reticulocytes, no evidence of leukemia

57
Q

Diamond blackfan anemia presentation, age, other findings, treatment, gene, risk for what

A

red cell only failure age <1
craniofacial abnormalities, thumbs abnormal, organ development defects, RSP19 gene

Cancer risk with AML, MDS, colon cancer, genital cancers, sarcoma

58
Q

Mcleod neuroacanthocytosis syndrome; inheritance and genetic issue, smear findings , symptoms

A

X-linked absence of Kell blood group antigens, acanthocytosis and hemolysis, weakness, movement disorders, dilated cardiomyopathy, psych symptoms

59
Q

hereditary stomatocytosis, lab findings, inheritance, mutation, testing

do not do what for treatment

A

hemolytic anemia, elevated MCHC, AD inheritance of PIEZO1 mutation, osmotic fragility test, ektacytometry, genetic testing

no splenectomy due to increase thrombosis and pulm HTN

60
Q

MOA of dabigatran (pradaxa)
reversal agent
IV versions names

A

anti-thrombin oral med
idarucizumab
argatroban, bivalrudin

61
Q

xarelto moa, reversal, check which lab

A

direct x inhibitor
reverse with andexanet alpha
check creatinine clearance (CI in <30)

62
Q

which is the linker for platelet to vwf
which disorder is this mutated
what is the platelet aggregation testing like
what is the status of the platelets in this disorder

A

Gp1b
bernard-soulier
no activation with risocetin
giant platelets and thrombocytopenia

63
Q

what is the linker between platelets for aggregation
what disorder is this mutated
what is the platelet aggregation testing like
what is the status of the platelets in this disorder

A

GpIIb/IIIa
glanzmanns
no activation with ADP, epi, collagen, normal ristocetin
normal platelt size and count

64
Q

what factor deficiency causes no bleeding risk

A

factor XII (12)

65
Q

MOA of heparin

A

binds and inactivates X, IX, XII, VII, and II, kallikrein and plasmin

66
Q

elevated PT and PTT with increased TT and reptilase time

A

dysfibrinogenemia

67
Q

factor V deficiency, treatment goals, other causes

A

milder than hemophilia A or B
PT and PTT both elevated
pre-op goal of >20% level for factor V
acquired in autoimmune diseases, cancer, antibiotics or MPNs

68
Q

difference between HELLP and ALFP, cause of ALPF

A

liver dysfunction is worse with ALFP and with more symptoms

AST/ALT/bili rapid rise, nausea, vomiting, ascites, hypoglycemia, coagulopathy

less HTN

deficiency of fetal enzyme LCHAD accumulates long chain fatty acids that are toxic to maternal liver

69
Q

moa of clopidogrel
moa of aspirin

A

ADP inhibitor which decreases platelet aggregation
TXA2 inhibitor (thromboxane) which decreases platelet aggregation

70
Q

storage pool disorder platelet agg testing results

A

robust primary ADP but less secondary ADP wave. reduced responses but some to collagen, epi, ristocetin.

71
Q

differentiate type 2B vwd from platelet type vwd

A

LD-RIPA:
- 2B is vwf stickiness, therefore donor and native platelets will have LD-RIPA activity with patient plasma
- platelet type is platelet stickiness. therefore donor plasma and native plasma will have activity with patient platelets. Donor plasma will also have increased activity with patient platelets.

72
Q

occulocutaneous albinism, pulmonary fibrosis, granulomatous colitis; name of syndrome and cause

A

hermansky pudlak and due to dense granule defect

73
Q

congenital TTP due to absence of ADAMSTS13 name of syndrome, treatment

A

upshaw-schulman
treat with plasma infusions (not plasmaphersis since they have no inhibitor to remove)

74
Q

quebec platelet disorder, defect, inheritance, clinical finding

A

delayed onset bleeding due to deficiency in fibrinolysis, increase urokinase plasminogen activator in alpha granules which degrades them and leads to decreased factor V, vwf and fibrinogen

75
Q

MOA fostamatinib and use

A

inhibits spleen tyrosine kinase, used in refratory ITP

76
Q

grey platelet syndrome cause and effects, lab finding, mutation

A

large platelets, thrombocytopenia, mild bleeding, absence of alpha granules, grey platelets on smear, NBEAL2, myelofibrosis due to granules released in marrow

77
Q

Jacobsen syndrome, paris-trousseau TCP; mutation, findings

A

thrombocytopenia with large granules, stunted growth, facial dysmorphism; ETS1 and FLI1 mutations cause fusion of alpha granules

78
Q

may-hegglin anomaly findings, risks, cause

A

thrombocytopenia with large platelets, neutrophil inclusions; due to dense granule deficiency, MYH9 mutations (RUNX1 is one),

sensorinural hearing loss, cataracts, renal failure due to glomerulonephritis

79
Q

GATA1

A

X-linked thrombocytopenia with large platelets, mild hemolytic anemia and splenomegaly

80
Q

Mediterranean macrothrombocytopenia findings and mutation

A

thrombocytopenia with large platelets, stomatocytes, GP1BA or B genes

81
Q

post-transfusion purpura
cause
test you can do
treatment

A

severe autoimmune platelet destruction 5-10 days after transfusion of red cells

absence of HPA-1a on recipient platelets with prior sensitization (pregnancy or transfusion) causes antibody development which destroys donor platelets

test for HPA antibodies

treat with IVIG, steroids, plasmapheresis

82
Q

passive alloimmune thrombocytopenia cause (and contrast to Post Transfusion Purpura)

A

TCP that develops hours after transfusion of plasma from a donor with pre-made anti-HPA-1 antibodies (versus PTP which is 5-10 days)

check for HPA antibodies in the transfused product. They are often a female multiparous donor.

83
Q

neonatal alloimmune TCP versus neonatal autoimmune TCP

A

mom makes antibodies against paternal antigens in baby platelets and causes neonatal TCP, mom has normal platelet count and no h/o ITP. transfuse maternal platelets.

versus mom has ITP and this is transferred to the child, treat with IVIG if severe

84
Q

Thrombocytopenia with absent radius findings and mutation

A

thrombocytopenia improves with age, heart issues, tetrology of fallot, kidney issues, short forearms, PBM8A mutation

85
Q

quinine moa in thrombocytopenia

A

immune-mediated destruction due to quinine binding to GP IIb/IIIa and resulting in macrophage clearance by spleen

86
Q

scott syndrome cause and testing

A

defective platelet phospholipid structural matrix

test platelet factor 3 via prolonged russel viper venom time or annexin V binding assay

87
Q

VEXAS syndrome what does it stand for and what does it cause

A

think vacuoles

bone marrow failure syndrome with (V)acuoles on BMB, E1 enzyme, X linked, Autoinflammatory Somatic Syndrome

chondritis, vasculitis, alveolitis, PMR like syndrome, thromboembolism, bone marrow failure

88
Q

what is is cryo

A

fibrinogen, factor VIII,, XIII, vwf

89
Q

transfusion reactions compare and contrast:

FNHTR, AHRT, DHRT, TRALI, TACO, Allergy, sepsis

A

FNHTR vs sepsis- just fever verus fever and septic symptoms

FNHTR vs AHTR- just fever versus fever and flank pain, vomiting, SOB, hematuria (hemolysis labs and urine with free hemoglobin)

AHRT vs DHRT- with in 24 hours with fever, flank pain, vom, sob, hematuria verus days to weeks later mild hemolysis, jaundice

TRALI vs TACO- trali within 6 hrs of transfusion, negative pro-BNP versus fluid overload

90
Q

passenger lymphocyte syndrome what is it and what does it cause

A

donor lymphocytes produce antibodies against recipient red cells which causes complement mediated hemolysis when there is ABO mismatch transplantation

self limited over days to months

91
Q

hemolytic anemia of the newborn what is it and what does it cause, which mismatches are at risk

A

mom makes antibodies against the baby RBC antigens

O mom makes antibodies against A or B baby
Rh negative mom makes antibodies against Rh+ baby

92
Q

leukoreduced versus irradiated blood (for whom)

A

leukoreduction prevents FNHTR
irradiation prevents transfusion-associated GVHD in transplanted patients, and those with severe leukopenias

93
Q

drugs that cause neutrophillia

A

lithium, steroids, epinephrine, ATRA or G-csf

94
Q

drugs that cause neutropenia

A

clozapine, beta-lactam abx, anti-thryroid meds, ticlopidine (antiplatelet drug), phenytoin, rheum meds (hydroxychloroquine, methotrexate, sulfasalazine), rituximab

95
Q

delayed separation of umbilical cord without pus

A

Leukocyte adhesion deficiency

96
Q

kostmann syndrome, mutation and presentation

A

severe chonic neutropenia, ELANE gene, HAX1 or WAS

severe neutropenia <200 at birth, oral and skin infections
marrow with arrest of WBC at promyelocyte stage
MDS/AMl risk, transplant

97
Q

cyclic neutropenia mutation and presentation

A

3 week cycle of neutropenia that lasts for a week (<200), recurrent fevers/inflammation, lymphadenopathy, pharyngitis, gingivitis, stomatitis
treated with g-csf
no aml risk

98
Q

alloimmune neonatal neutropenia cause and presentation

A

mom makes antibodies against babys neutrophils, resolves 8 weeks after birth, poor separation of umbilical cord and infections

HNA-1a is target, late myeloid arrest on marrow

99
Q

LGL leukemia T-cell flow, work up and presentation, treatment, associated disorder

A

CD3+ CD57+, TCR +
chronic neutropenia, splenomegaly
associated with RA
observe and treat if symptomatic with methotrexate

100
Q

Chronic NL lymphocytosis versus NK leukemia

A

indolent versus aggressive with B symptoms, HSM, GI and CNS involved, multiple cytopenias, organ failure, coagulopathy

Flow for chronic: CD56+ CD16+ verus acute CD8 is also positive

treat with observation/immunosuppression verus referral, clinical trial, transplant

101
Q

occuloctaneous albinism, infections, neutropenia; mutation and cause, marrow, risk

A

chediak-higashi
AR mutation in CHS1/LYST which results in abnormal lysosome trafficking (melanocytes)
marrow with lysosome vesicles in neutrophils
HLH risk in childhood

102
Q

chronic granulomatous disease, mutation causes what problem and what infections are most problematic, how to diagnose

A

NADPH oxidase defect prevents phagocyte respiratory burst
Dihyrodamine 123 (DHR) or NADPH oxidase activity (nitroblue-tetrazolium)
catalase positive bacteria staph aureus, serratia, ecoli, kleb, nocardia, burkholderia, aspergillus

103
Q

PNH presentation, work up, gene, treat

A

hemolytic anemia, thrombosis, cytopenias, aplastic anemia
flow with granulocytes with decreased CD55/59, unchecked complement medicated destruction
PIG-A gene codes for GPI for CD55 (C3 convertase inhibitor), CD59 (MAC blocker)
treat if hemolytic with eculizumab, ravulizumab, pegcetacoplan

104
Q

Bone marrow failure with short stature, skin hyperpigmentation (cafe au lait spots) and microcephaly, developmental delay, kidney problems, abnormal thumbs, deafness, renal abn, congenital hip dislocation

A

fanconi anemia

104
Q

fanconi anemia mutations and cause; cancer risk

A

FANC genes, inability to repair DNA damage
AML/MDS, SCC of head and neck, gyn

Rare mutation FANCD1/BRCA2 childhood leukemia, medulloblastoma, wilms tumor

104
Q

reticulated skin pigmentation, nail dystrophy, leukoplakia, pulmonary fibrosis, cirrhosis; name mutation and cancer risk; treatment

A

dyskeratosis congenita
TERT mutations, telomeres are short
AML and SCC risk, GI malig
androgens to increase Hgb

105
Q

schwachman-diamond syndrome; mutation and inheritance, associated symptoms, risk, conditioning regimen

A

bone marrow failure syndrome with pancreatic insufficiency, malabsorption, short stature, bone abnormalities

AR SBDS mutation

AML/MDS

HCT with RIC (increased cardiac risk with cyclophosphamide)

106
Q

bloom syndrome what and associated symptoms, mutation, risk

A

BLM mutation in DNA helicase causes genomic instability

immunodeficiency

short stature, sensitivity to sun, butterfly rash, early COPD, high pitched voice, large nose, prominent ears, cancer risk

107
Q

causes of aplastic anemia

A

radiation, benzene, viruses, autoimmune disease, thymoma, pregnancy, idiopathic, genetic causes

108
Q

treat aplastic anemia

A

horse (over rabbit) ATG, cyclosporine, eltrombopag or HCT if <40

109
Q

causes of secondary pure red cell aplasia

A

drugs, thymoma, hypoplastic MDS, LGL leukemia, parvo virus infection

110
Q

Job syndrome/HIES, mutation, symptoms/findings

A

recurrent infections with two row of teeth, elevated IgE, eosinophilia, hyperextendible joints, fractures, eczema

STAT3 mutation

111
Q

barth syndrome, mutation, symptoms

A

Barth= heart
X-linked taz gene

Immunodeficiency, neutropenia that can be cyclic

dilated cardiomyopathy, skeletal myopathy, short stature, chubby cheeks

112
Q

WHIM mutation, cause and symptoms, treatment

A

CXCL4 mutation AD, can’t mobilize immune cells out of marrow

warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (leukopenia in serum not marrow)

plerixafor mobilizes cells, IVIG

113
Q

familial platelet disorder mutation and risk

A

RUNX1, AD, mild to moderate TCP and dysfunction

familial MDS/AML syndrome

114
Q

secondary cause of myelofibrosis, marrow findings and treatment

A

autoimmune myelofibrosis with mild fibrosis, lymphoid aggregate and no dysplasia, no MPN mutation

steroid responsive

115
Q

monoMAC syndrome mutation associated symptoms and risk

A

AD GATA2 causes dendritic cell monocyte B and NK lymphocyte deficiency

erythema nodosum and pulmonary alveolar proteinosis

risk for mycobacterial infections and also viral, fungal, bacterial and viral cancers, MDS/AML, melanoma, HPV and leiomyosarcoma EBV+

116
Q

MOA of empalumab and use

A

Interferon gamma blocking antibody used in relapsed/refractory HLH

117
Q

gaucher disease mutation, symptoms, marrow findings

A

AR GBA gene causes accumulation of glucocerebroside which causes disease

pancytopenia, hypogammaglobulinemia, impaired neutrophil chemotaxis

skeletal deformity, AVN, short stature, pulmonary HTN

marrow with wrinkled tissue paper appearance of macrophages and histiocytes with a single nucleus

118
Q

congenital dyserythropoietic anemia symptoms

A

isolated anemia, jaundice, splenomegaly, iron overload, skeletal abn especially in distal limbs, syndactyly, absence of phalanges, hypoplastic ribs

119
Q

familial Mediterranean fever symptoms and mutation, treatment

A

AD mutation of MEFV gene which encodes for pyrin and causes dysregulation of the inflammatory system, particularly neutrophils

fever, pleuritis, synovitis that wax and wane, infertility and SBO

Amyloid A buildup

treat with colchicine or IL-1 inhibitors

120
Q

Ferric carboxymaltose risk

A

hypophosphatemia

121
Q

ASXL1 gene is involved in

A

epigenetic regulation

122
Q
A

ASCO Boards (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions