Heme/Onc pt 2 (FA) Flashcards

1
Q

t(8,14)

A

Burkitt’s Lymphoma

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2
Q

t (9, 22)

A

Chronic Myelogenous Leukemia

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3
Q

t (11; 14)

A

Mantle Cell Lymphoma

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4
Q

t ( 14;18)

A

follicular cell lymphoma

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5
Q

t( 15;17)

A

APL (acute myeologenous leukema type M3)

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6
Q

Langerhans Cell histiocytosis

A

overproduction of dendritic cells
+S100, CD1a, beribeck granules
symptoms: bone lesions, otitis media with mass on mastoid, skin rash
affects children

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7
Q

Polycethmia:

relative vs absolute (2ndary)

A

relative: decrease in blood vol such as dehydration or burn
absolute: actual increase in RBC can be “appropriate” or “physiologic” like when you are at high altitudes, have OSA/heart failure/OSA
can be absolute “innapropriate” usually due to ectopic EPO production due to RCC, HCC,hydronephrosis

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8
Q

polycythemia vera (primary/essential)

A

due to mutation causing consititutively active JAK2, which causes increased RBC production (note EPO will be low unlike in 2ndary)

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9
Q

Essential Thrombocythemia

A

increase in platelets and megakaryocytes (may be big or malformed) (JAK2)

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10
Q

Myelofibrosis

A

fibrosis obliterates bone marrow, teardrop cells (JAK2)

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11
Q

Acute Lymphoblastic Leukemia

A

CHILDREN ; TDT+
t-cell: mediastinal mass/ SVC syndrome
B-cell: CD10+
DOWN’S SYNDROME

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12
Q

what indicates better prognosis of ALL

A

t (12; 21)

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13
Q

Chronic Lymphoblastic Leukemia

A

B cell neoplasm
Smudge cells “crushed little lymphocytes”
CD20+, CD35+, CD5+
Richter Transformation: becomes DLBCL

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14
Q

Hairy Cell Leukemia

A

EBV related, TRAP+,
Bcell with hairy filamentous projections
bone marrow fibrosis
affects adult males

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15
Q

Acute Myelogenous Leukemia

A

Auer rods, MPO+, APL= t(15;17), DIC,
Down’s association
exposure to alk chemo, radiation, myeloprolif disorders

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16
Q

Chronic Myelogenous Leukemia

A

t (9; 22) Philadelphia chromosome; BCR-ABL
low LAP
can become AML or ALL in “blast crisis”

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17
Q

CML t(x)

A

tyr kinase inhibitor imatinib

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18
Q

Hairy Cell Leukemia t(x)

A

cladribine, pentostatin

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19
Q

Multiple Myeloma

A

plasma cell neoplasia

"CRAB"
hyperCalcemia 
Renal involvement/ Rouleaux formation of RBC
Anemia/ can lead to amyloidosis (AL) 
Bone lytic lesions/Back pain
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20
Q

MM has increase in what proteins

A

M spike
increase in IgG or IgM
this poor variability of Ig’s causes decreased immunity

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21
Q

MGUS

A

just an isolated M spike without CRAB symptoms

asymptomatic with 1% chance of becoming MM

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22
Q

Waldenstrom Macroglobulinemia

A

M spike with hyperviscosity of blood (blurry vision+ Raynaud’s)
no CRAB symptoms

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23
Q

Myelodysplastic Syndromes

A

stem cell disorder w/ ineffective hematopoiesis
can be sporadic or related to exposure to radiation/benzene/chemo
can become AML

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24
Q

Pseudo-Pelger-Huet Anomaly

A

seen post-chemo

neutrophils w bilobed nuclei

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25
Q

Burkitt Lymphoma (BCELL)

A

t(8;14) c-myc(8)
starry night, sheets of lymphocytes, tingeable body (macrophage)
children
EBV

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26
Q

DLBCL (BCELL)

A

BCL2, BCL6
most common non-hodgekin lymphoma
older adults

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27
Q

Follicular Lymphoma (B CELL)

A
t ( 14; 18) "fo-llicular.. fo--rteen" 
BCL2( 18) 
middle age adults 
"waxing waning lymphadenopathy"
small cleaved cells= grade 1, large cells= 3
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28
Q

Mantle Cell Lymphoma (B CELL)

A

t (11;14) CYCLIND1 (11); CD5+
adult males
very aggressive

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29
Q

Marginal Zone Lymphoma (BCELL)

A

t (11;18) CYCLIND1 (11)

association with inflamm d(x) like SLE, Sjogren, MALT

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30
Q

Primary CNS(BCELL)

A

AIDS defining illness
confusion/mem loss/seizures
MRI looks like Toxo

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31
Q

Adult T cell Lymphoma

A

HTLV
IVDU
cutaneous T cell lesion
lytic bone lesions, hypercalcemia

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32
Q

Mycosis fungoides

A

adult T cell Lymphoma

skin patches/plaques of CD4+ T cells with “cerebriform nuclei” and “pautrier microabcess”

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33
Q

Sezary Syndrome

A

if Mycosis Fungoides progresses to Tcell leukemia

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34
Q

Hodgekin’s vs NonHodgekins

A

Hodgekins has Reed-Steernberg cells (owl)
bimodal age distribution (young adults and over 55)
single lymphnodes or contiguous
better prognosis
EBV assn

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35
Q

most common Hodgekin’s lymphoma

A

nodular sclerosis

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36
Q

best prognosis Hodgekin’s lymphoma

A

lymphocyte rich

37
Q

Hodgekin’s lymphomas seen in immunocompromised

A

Lymphocyte depleted

mixed cellularity

38
Q

Antithrombin def

A

no change in PT, PTT, Thrombin time
but Heparin is less effective, evidenced by less lengthening of PTT

inherited or acquired (renal failure causes antithrombin lost in urine)

39
Q

Factor V Leiden

A

resistant to inactivation by protein C leads to hypercoag state (DVT, miscarraige, cerebral v thromboses)
POINT mutation near cleavage site

40
Q

Protein C or S deficiency

A

cant inactivate Factor Va and Factor VIIIa

increased risk of thrmbotic skin necrosis upon warfarin

41
Q

prothrombin gene mutation

A

prothrombin made too much bc of mutation in 3’ UTR

hypercoag state

42
Q

DIC

A

activation of widespread clotting– clotting factor def– widespread bleeding
note that platelets will be decreased, BT/PT/PTT increased
increased Ddimer, decreased fibrinogen

43
Q

causes of DIC

A
STOP Making New Thrombi 
Sepsis (gram neg)
Trauma 
Obstetrics
Pancreatitis
Malignancy
Nephrotic Syndrome
Transfusion
44
Q

what changed in VWF disease

A

both bleeding time and PTT increased b/c decreased VWF but also decreased Factor VIII

45
Q

Thrombotic thrombocytopenic purpura

A

ADAMSTS13 defect
can’t cleave VWF, so platelet aggregation and thrombosis

s(x)- neuro, renal, fever, thrombocytopenia, and microangiopathic hemolysis

46
Q

Immune Thrombocytopenia

A

antibodies against G2b3a

platelets/antibody complex is removed by spleen so low platelet count

47
Q

Hemolytic Uremic Syndrome

A

EHEC 0157:H7 causes injury to endothelial wall causing platelet consumption and microangiopathic hemolysis
usually preceeded by bloody diarrhea and seen in kiddos

48
Q

Glanzmann

A

defect in G2b3a
platelets cant aggregate
no platelet “clumping”
(note, platelet count is normal!)

49
Q

Bernard Soulier

A

GP1b defect

50
Q

Sideroblastic Anemia? deficiency

A

ALA synthase def

51
Q

Lead Poisoning? deficiency

A

ALA dehydratase and/or ferrochetalase def

52
Q

AIP? deficiency

A

PBG deaminase def

53
Q

PCT? deficiency

A

Urophrinogen decarboxylase def

54
Q

s(x)- bilstering photosensitive rash+ hyperpigmentation+ “tea colored urine”

A

PCT

55
Q

PCT and AIP inheritance

A

AD

56
Q

AIP symptoms?

A
5P's
painful abdomen 
port wine urine
polyneuropathy
psych disturbances
precipitated by CYP450 inducers, starvation, alc
57
Q

AIHA (+ Direct Coombs)

A

warm- IgG- chronic anemia- SLE/CLL/alpha methyl dopa

cold- IgM- acute anemia- Mononucleosis and M.Pneumo
triggered by cold– Raynaud’s

58
Q

Microangiopathic Hemolytic Anemias

A

HUS, TTP, DIC, SLE, HELLP, malignant htt

SCHISTIOCYTES

59
Q

macroangiopathic hemolytic anemia

A

mechanical valves, AS

schistiocytes

60
Q

HbC disease

A

Glutamic Acid is replaced with lyCine
note that this travels the shortest distance on electrophoresis bc it is +, but the + also leads to milder disease bc no neutral pockets to sickle
RBC will show target cells and crystal shaped RBC (not sickle!)

61
Q

Paroxysmal Nocturnal Hemoglobinuria

A

defect in PIGA gene so can’t attach GPI anchors to RBC, these GPI anchors would normally display CD55 and CD59. Without CD55 and CD59 displayed RBC are vulnerable to attack by complements.

presentation will include pancytopenia, hemolytic anemia, and thrombuses in weird places

62
Q

what does PNH increase incidency of

A

leukemias (like AML)

63
Q

what is PNH treatment

A

Eculizumab (complement inhibitor)

64
Q

Pyruvate Kinase def

A

AR deficiency of Pyruvate Kinase
no glycolysis so no ATP.
RBC stiff and prone to hemolysis w/ decreased O2 affinity and increased levels of 2,3BPG
can cause hemolytic anemia of newborn

65
Q

G6PD type of inheritance

A

XR

66
Q

G6PD

A

XR mut in G6PD, inhibits HMPshunt, so decreased NADPH levels
without NADPH glutathione can’t be repleted and there is increased oxidative stress
situations of added oxidative stress will cause hemolysis- antimalarials, Fava beans, sulfa drugs, infections

67
Q

RBC findings in G6PD

A
Heinz Bodies (want some Heinz ketchup with those FAVA beans?) 
Bite cells
68
Q

Hereditary Spherocytosis inheritance?

A

AD

69
Q

RBC of Spherocytosis

A

smaller/same size with no central pallor and increased MCHC

70
Q

Aplastic Anemia

A

Fatty infiltration of bone marrow resulting in pancytopenia

Retic count will be LOW (bc low production capability) EPO will be high (assuming kidney intact)

71
Q

causes of Aplastic Anemia

A

radiation :benzene, chlorompenicol, and alkylating agents
Viral: parvo, EBV, HIV, and Heps
Fanconi- renal involvement too w short stature and thumb/radial defects
idiopathic

72
Q

pathophysiology of Anemia of Chronic Disease

A

inflammation -> increase in Hepcidin -> blocks Ferroprotin-> Fe stuck in (1) macrophages and (2)can’t be absorbed from SI
Low Iron, High Ferritin, Low TIBC
causes of inflammation are SLE, RA, CKD, neoplasia

73
Q

Diamond Blackfan Anemia

A

Macrocytic anemia without issues in DNA synthesis
seen before 1yo
issue with erythroid progenitor (note %HbF increased)
short, craniofacial abnormal, UE malformed, triphalangeal joints

74
Q

Orotic Aciduria

A

one cause of megaloblastic anemia: AR defective UMP synthase
UMP synthase makes orotic acid into dUMP which is used to then make dTMP, without which DNA synth will be halted
labs: increased orotic acid without hyperammonemia

75
Q

treatment of orotic aciduria

A

uridine triacetate to bypase UMP synthase

76
Q

how to tell folate def and B12 def apart

A

folate def: can occur sooner, alcoholics, increased demand of folate, pregnancy, drugs like MTX and phenytoin, absorption happens in prox jeju
Folate def: increase in homocysteine but not in methyl malonic acid

B12 def: increase in both homocysteine and methylmalonic A. Also subacute combined degeration of spinal cord
causes:years of veganism, pernicious anemia, gastrectomy, diphillobotrom,

77
Q

megaloblastic anemia rbc?

A

hypersegmented neutrophils

RBC macrocytosis

78
Q

what are the Microcytic Anemias?

A
SALTI 
sideroblastic 
anemia of chronic disease
lead poisoning
thalassemia 
iron deficiency
79
Q

sideroblastic anemia

A

XR or reversible/acquired ALA synthase deficiency
alcohol, cu def, and decreased B6/ Isoniazid use
labs will show: increased iron and ferritin (not even being used in RBC right?) and decreased TIBC

80
Q

sideroblastic anemia rbc?

A

siderblasts in bone marrow

basophilic stippling in blood stream

81
Q

t(X) of sideroblastic anemia

A

pyridoxine

82
Q

Lead Poisoning symptoms?

A

LEAD
Lead lines on gingiva (Burton lines) and on long bones
Encephalopathy and erythrocyte basophilic stippling
Abdominal colic and sideroblastic anemia
Drops- foot/wrist drop (also t(x)- Dimercaprol, eDta)

83
Q

Lead Poisoning t(x)

A

Dimercaprol, EDTA, succimer for the kiddos

84
Q

what is wrong in lead poisoning?

A

lead inhibits ALA dehydratase and Ferrochetalase, so RBC not made
rRNA degradation also inhibited so basophilic stippling seen

85
Q

Beta Thalassemia caused by?

A

point mut at splice sites and promoter sequences (not a problem with DNA but a problem in mRNA!) which causes decreased Bglobin SYNTHESIS

86
Q

what is alpha thalassemia caused by

A

alpha globin GENE deletion.
4 genes deleted- HbBarts which is 4gamma, incompatible with life– hydrops fetalis
3 genes deleted- HbH disease, bc so little alpha is produced, beta globin forms tetramers- B4
2 genes deleted- less clinically severe (cis= Asian, trans= Africans)
1 allele deleted- no anemia

87
Q

Iron Def Anemia

A

due to: bleeding, malabsorption, malnutrition, increased demand(pregnancy)
needed for ferrochetalase enzyme
labs: decreased iron, decreased ferritin, increased TIBC

88
Q

symptoms of Iron Deficiency Anemia

A

PICA, koilonychia (spoon nails)

maybe glossitis, cheilosis, Plummer-Vinson (esophageal webs + dysphagia)

89
Q

Bortezomib, Carfilzomb (in FA not in sketchy!)

A

proteasome inhibitor, stops cell cycle at G2/M
used for MM and mantle cell lymphoma
AE: peripheral neuropathy and Herpes Zoster reactivation