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Pathology - hem/onc Flashcards

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1
Q

Acanthocyte

A

liver disease, abetalipoproteinemia

cholesterol dysregulation

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2
Q

Basophilic stippling

A

Lead poisoning

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3
Q

Degmacyte

A

G6PD deficiency

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4
Q

Elliptocyte

A

Hereditary elliptocytosis

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5
Q

Macro-ovalocyte

A

Megaloblastic anemia

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6
Q

Ringed sideroblast

A

excess iron in mitochondria

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7
Q

Schistocyte

A

DIC, TTP, HUS, HELLP

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8
Q

Sickle cell

A

Sickle cell

dehydration, deoxygenation, high altitude

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9
Q

Spherocyte

A

hereditary spherocytosis (incr. MCHC!)

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10
Q

Dacrocyte (teardrop cell)

A

Bone marrow infiltration (RBC squeezed out)

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11
Q

Target cell

A

HbC disease, Asplenia, Liver disease, Thalassemia

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12
Q

Heinz bodies

A

Oxidation of Hb-SH with subsequent phagocytic damage to RBC membrane (leads to bite cells)

G6PD deficiency

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13
Q

Howell-Jolly bodies

A

basophilic nuclear remnants found in RBCs

(normally removed by splenic macrophages)

sign of asplenia or functional asplenia (sickle-cell, polysplenia)

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14
Q

Microcytic, hypochromic anemias (5 total)

A 
Iron deficiency
Alpha-thalassemia
Beta-thalessemia
Lead poisoning
Sideroblastic anemia
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15
Q

Lab tests in iron-deficiency anemia

A

decr. iron, incr. TIBC, decr. ferritin

look for conjunctival pallor and spool nails (koilonychia)

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16
Q

Gene deletions found in alpha-thalassemia

A

loss of alpha-globin gene

cis deletion = Asians
trans deletion = African

4 alleles deleted = incompatible with life
3 alleles deleted = very little alpha globin, HbH disease

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17
Q

Gene mutations found in beta-thalassemia

A

Point mutations in splice sites and promoter sequences

Minor: asymp. look for incr. HbA2

Major:

  • symp after 6mos of age, req. blood transfusions
  • marrow expansion –> bone deformities
  • extramedullary hematopoiesis, incr. risk of parvob19 induced crisis
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18
Q

Lab/smear findings in lead poisoning

A

Lab: decr. heme synthesis, incr. protophorphyrin

Smear: rRNA aggregates –> basophilic stippling

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19
Q

Clinical findings of LEAD poisoning

A

Lead lines on x-ray: long bones and gingivae

Encephalopathy and RBC stippling

Abdominal colic and sideroblastic anemia

Drops - wrist and foot drop. Dimercaprol and EDTA

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20
Q

Causes of sideroblastic anemia

A

defect in heme synthesis

Genetic, acquired (myelodysplasia), reversible (alcohol, B6 deficiency, copper deficiency, isoniazid)

Use Prussian blue to stain iron-laden mitochondria

TX: B6/pyroxidine (provides co-factor)

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21
Q

Sideroblastic anemia labs

A

incr. iron, normal to decr. TIBC, incr. ferritin

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22
Q

4 causes of macrocytic anemia

A

Megaloblastic: folate deficiency, B12 deficiency, orotic aciduria

Nonmegaloblastic: unimpaired DAN synthesis (alcoholism, liver disease, hypothyroidism, reticulocytosis)

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23
Q

Mechanism of megaloblastic anemia

A

Impaired DNA synthesis –> maturation of nucleus of precursor cells in bone marrow is slower than the maturation of the cytoplasm

Leads to RBC macrocytosis and hypersegmented neutrophils

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24
Q

Folate vs. B12 deficiency

A

Folate = incr. homocysteine, normal MMA, no neuro sx

B12 = incr. homocysteine, incr. MMA, neuro sx “subacute combined degeneration”

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25
Orotic aciduria vs. OTC deficiency
Orotic aciduria = defect in UMP synthase, no incr. NH4 OTC deficiency = incr. orotic acid and incr. NH4
26
Non-hemolytic normocytic normochromic anemia (2 total)
Anemia of chronic disease - incr. hepcidin, decr. iron release from macs (labs = decr. iron, decr. TIBC, incr. ferritin) Aplastic anemia - failure or destruction of myeloid stem cells (radiation/drugs, viral agents, Fanconi anemia, idiopathic), fatty infiltration of marrow --> pancytopenia
27
Characteristics of intravascular hemolytic normocytic anemia
decr. haptoglobin, incr. LDH, schistocytes, incr. retics think mechanical, PNG, MAHA
28
Characteristics of extravascular hemolytic normocytic anemia
Macs in spleen clear RBCs, so no Hgb in urine, incr. unconj bilirubin, jaundice Ex. HS, PK deficiency, HbC defect, sickle cell anemia
29
HS protein defect
Ankyrin, spectrin --> small round RBCs with decr. surface area Positive osmotic fragility test (blood mixed w/ 0.36% buffered saline)
30
Oxidative stress for G6PD patients
sulfa drugs, antimalarials, infections, fava beans
31
PNH mechanism
complement-mediated RBC lysis impaired GPI anchor for DAF/CD55, which normally protects RBCs (loss of CD55, CD59) Look for Coombs (-) anemia, pancytopenia, venous thrombosis (Budd-Chiari)
32
Sickle cell anemia mechanism
HbS point mutation (glutamic acid out, valine in on B-globin)
33
Complications from sickle cell anemia
``` aplastic crisis autosplenectomy splenic infarct (risk of SHiN infection!) salmonella osteomyelitis dactylitis/acute chest renal papillary necrosis ```
34
Warm vs. cold autoimmune hemolytic anemia | both are Coombs positive
Warm (IgG) = chronic, SLE, CLL, drugs Cold (IgM) = acute, seen in M. pneumoniae infections, Mono
35
Serum iron TIBC/transferrin Ferritin % transferrin saturation
Iron-deficiency: decr***, incr, decr, double decr. Chronic dz: decr. decr. incr***
36
Transferrin vs. ferritin
Transferrin: transports iron in blood Ferritin: primary iron storage protein in the body
37
Three heme synthesis defects to know
Lead poisoning Acute intermittent porphyria Porphyria cutanea tarda
38
Enzymes affected in lead poisoning
Ferrochelatase and ALA dehydratase accumulation of protoporphyrin, delta ALA
39
Enzymes affected in AIP
Porphobilinogen (PBG) deaminase Porphobilinogen, delta ALA, coporphobilinogen (urine) Can be precipitated by alcohol, smoking, rifampin, sulfonamides Tx: glucose (to downregulate ALA synthase)
40
Enzymes in porphyria cutanea tarda
Uroporphyrinogen decarboxylase | Uroporphyrin (tea-colored urine)
41
Iron poisoning mechanism
Cell death due to peroxidation of membrane lipids
42
Factors tested by PT
Common pathway: 1, 2, 5 | Extrinsic pathway: 7, 10
43
Factors tested by PTT
Common and intrinsic pathway All factors except 7 and 10
44
Bleeding time
incr in BT = defect in platelet plug formation
45
Platelet disorders and specific defect
Bernard-Soulier: decr. GpIb (decr. plt to vWF adhesion) Glanzmann: decr. GpIIb/IIIa (decr. plt to plt aggregation) ITP: anti-GpIIb/IIIa antibodies
46
TTP mechanism
ADAMTS13 defect/absence --> decr. degradation of vWF multimers --> large multimers --> plt aggregation and thrombosis Look for CNS sx, renal sx, fever, low plts, MAHA
47
Defects found in vWF disease
intrinsic pathway defect: loss of factor 8 (incr. PT) defect in platelet plug formation (incr. bleeding time) dx: ristocetin cofactor assay (primes platelets for vWF binding) tx: desmopressin (incr vWF and factor 8 release)
48
Labs found in DIC
incr. fibrin split products, decr. fibrinogen, decr. factors 5 and 8
49
Mechanisms of antithrombin deficiency
inherited acquired in renal failure/nephrotic syndrome (loss of factors in urine)
50
Protein C deficiency common syndrome
Skin and subcutaneous tissue necrosis after warfarin adminstration
51
FFP vs. cryoprecipitate
treat DIC, cirrhosis, warfarin reversal vs. coagulation factor deficiencies involving VII and fibrinogen
52
Leukemoid reaction vs. CML
Leukemoid = incr. WBC, incr. Leukocyte alkaline phosphatase CML = incr. WBC, decr. LAP
53
Hodgkin lymphoma location in body cells associations
Localized, single group of nodes, contiguous spread Reed-Sternberg cells assoc. with EBV
54
non-Hodgkin lymphoma location in body cells associations
Multiple, peripheral nodes B cells assoc. HIV and autoimmune disease
55
Non-Hodgkin B cell lymphoma translocations Burkitt Follicular Mantle cell
Burkitt - t8:14 (c-myc, transcription activator) Follicular - t14:18 (BCL-2, oncogene that inhibits apoptosis, indolent!) Mantle cell - t11:14 (cyclinD1, CD5 positive) Ch. 14 = heavy chain Ig Diffuse large cell - no translocation but most common non-Hodgkin lymphoma in adults
56
Non-Hodgkin T cell neoplasms
Adult T-cell lymphoma: caused by HTLV (assoc with IVDA) Mycosis fungoides: cutaneous T-cell lymphoma
57
Multiple myeloma products diagnosis
IgG or IgA M spike on serum protein electrophoresis Ig light chains in urine (Bence-Jones) Rouleaux formation (stacked RBCs) CRAB: elevated Ca, Renal involvement, Anemia, Bone lytic lesion Complications: incr. susceptibility to infection, amyloidosis (apple-green birefringence) in heart, tongue, kidney, CNS
58
TdT+, CD10+
ALL markers (can have pre-B cell leukemia precursor) most responsive to therapy young people
59
CD20+, CD5+ B cell neoplasm
SLL/CLL old people
60
TRAP stain positive B cell neoplasm
Hairy cell leukemia Marrow fibrosis (leads to dry tap on aspiration) Tx: cladribine
61
Auer rods Responds to Vitamin A
AML Auer rods = stain for peroxidase, indicate myeloid differentiation t(15;17) responds to Vitamin A (retinoic acid receptor)
62
t(9;22) translocation
CML, Philadelphia chromosome
63
Lytic bone lesions | Recurrent otitis media w/ mass involving mastoid bone
Langerhaans histiocytosis S-100 marker, CD1a
64
JAK2 disorders (non-receptor tyrosine kinase assoc. w/ EPO receptor)
Polycythemia vera - itching after hot shower (incr. basophils) Essential thrombocytosis - overproduction of abnormal platelets Myelofibrosis - obliteration of bone marrow due to incr. fibroblast activity
65
Hemolytic-uremic syndrome (HUS)
Shiga toxin --> endothelial cell injury --> isolated activation of platelets --> RBC damage as they travel through narrrow lumens
66
Tumor suppressor genes
``` p53 (apoptosis inducer) Rb (regulates G1 to S checkpoint, phosphorylated/mutated = inactive) BRCA (DNA repair) APC (tumor suppressor) NF-1 (neurofibromatosis) ```
67
Protooncogenes
``` Ras (signal transduction) Erb-B1 (tyrosine kinase) Erb-B2/HER2 (tyrosine kinase) N-myc (neuroblastoma) C-myc (Burkitt, transcription activator) ```
68
Penetration of the basement membrane
1. ) detachment of tumor cells (decr. E-cadherins) 2. ) adhere to basement membrane (incr. laminin) 3. ) invasion of BM (incr. metalloproteinases)
69
Cytokine mediator of cachexia
TNF-alpha
70
Factor V Leiden mechanism of pro-coagulation
increased coagulation (reduced susceptibility to cleavage) and decreased anticoagulation (decreased APC activity)
71
Oxidative stress is induced by...
Bactrim, dapsone, antimalarials, nitrofurantoin fava beans infection
72
Pure red cell aplasia (PRCA)
associated with thymoma, leukemia, parvovirus B19

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