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Heme/Onc pt 2 (FA) Flashcards

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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
Burkitt Lymphoma (BCELL)
t(8;14) c-myc(8) starry night, sheets of lymphocytes, tingeable body (macrophage) children EBV
26
DLBCL (BCELL)
BCL2, BCL6 most common non-hodgekin lymphoma older adults
27
Follicular Lymphoma (B CELL)
``` t ( 14; 18) "fo-llicular.. fo--rteen" BCL2( 18) middle age adults "waxing waning lymphadenopathy" small cleaved cells= grade 1, large cells= 3 ```
28
Mantle Cell Lymphoma (B CELL)
t (11;14) CYCLIND1 (11); CD5+ adult males very aggressive
29
Marginal Zone Lymphoma (BCELL)
t (11;18) CYCLIND1 (11) | association with inflamm d(x) like SLE, Sjogren, MALT
30
Primary CNS(BCELL)
AIDS defining illness confusion/mem loss/seizures MRI looks like Toxo
31
Adult T cell Lymphoma
HTLV IVDU cutaneous T cell lesion lytic bone lesions, hypercalcemia
32
Mycosis fungoides
adult T cell Lymphoma | skin patches/plaques of CD4+ T cells with "cerebriform nuclei" and "pautrier microabcess"
33
Sezary Syndrome
if Mycosis Fungoides progresses to Tcell leukemia
34
Hodgekin's vs NonHodgekins
Hodgekins has Reed-Steernberg cells (owl) bimodal age distribution (young adults and over 55) single lymphnodes or contiguous better prognosis EBV assn
35
most common Hodgekin's lymphoma
nodular sclerosis
36
best prognosis Hodgekin's lymphoma
lymphocyte rich
37
Hodgekin's lymphomas seen in immunocompromised
Lymphocyte depleted | mixed cellularity
38
Antithrombin def
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
Factor V Leiden
resistant to inactivation by protein C leads to hypercoag state (DVT, miscarraige, cerebral v thromboses) POINT mutation near cleavage site
40
Protein C or S deficiency
cant inactivate Factor Va and Factor VIIIa | increased risk of thrmbotic skin necrosis upon warfarin
41
prothrombin gene mutation
prothrombin made too much bc of mutation in 3' UTR | hypercoag state
42
DIC
activation of widespread clotting-- clotting factor def-- widespread bleeding note that platelets will be decreased, BT/PT/PTT increased increased Ddimer, decreased fibrinogen
43
causes of DIC
``` STOP Making New Thrombi Sepsis (gram neg) Trauma Obstetrics Pancreatitis Malignancy Nephrotic Syndrome Transfusion ```
44
what changed in VWF disease
both bleeding time and PTT increased b/c decreased VWF but also decreased Factor VIII
45
Thrombotic thrombocytopenic purpura
ADAMSTS13 defect can't cleave VWF, so platelet aggregation and thrombosis s(x)- neuro, renal, fever, thrombocytopenia, and microangiopathic hemolysis
46
Immune Thrombocytopenia
antibodies against G2b3a | platelets/antibody complex is removed by spleen so low platelet count
47
Hemolytic Uremic Syndrome
EHEC 0157:H7 causes injury to endothelial wall causing platelet consumption and microangiopathic hemolysis usually preceeded by bloody diarrhea and seen in kiddos
48
Glanzmann
defect in G2b3a platelets cant aggregate no platelet "clumping" (note, platelet count is normal!)
49
Bernard Soulier
GP1b defect
50
Sideroblastic Anemia? deficiency
ALA synthase def
51
Lead Poisoning? deficiency
ALA dehydratase and/or ferrochetalase def
52
AIP? deficiency
PBG deaminase def
53
PCT? deficiency
Urophrinogen decarboxylase def
54
s(x)- bilstering photosensitive rash+ hyperpigmentation+ "tea colored urine"
PCT
55
PCT and AIP inheritance
AD
56
AIP symptoms?
``` 5P's painful abdomen port wine urine polyneuropathy psych disturbances precipitated by CYP450 inducers, starvation, alc ```
57
AIHA (+ Direct Coombs)
warm- IgG- chronic anemia- SLE/CLL/alpha methyl dopa cold- IgM- acute anemia- Mononucleosis and M.Pneumo triggered by cold-- Raynaud's
58
Microangiopathic Hemolytic Anemias
HUS, TTP, DIC, SLE, HELLP, malignant htt SCHISTIOCYTES
59
macroangiopathic hemolytic anemia
mechanical valves, AS | schistiocytes
60
HbC disease
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
Paroxysmal Nocturnal Hemoglobinuria
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
what does PNH increase incidency of
leukemias (like AML)
63
what is PNH treatment
Eculizumab (complement inhibitor)
64
Pyruvate Kinase def
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
G6PD type of inheritance
XR
66
G6PD
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
RBC findings in G6PD
``` Heinz Bodies (want some Heinz ketchup with those FAVA beans?) Bite cells ```
68
Hereditary Spherocytosis inheritance?
AD
69
RBC of Spherocytosis
smaller/same size with no central pallor and increased MCHC
70
Aplastic Anemia
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
causes of Aplastic Anemia
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
pathophysiology of Anemia of Chronic Disease
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
Diamond Blackfan Anemia
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
Orotic Aciduria
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
treatment of orotic aciduria
uridine triacetate to bypase UMP synthase
76
how to tell folate def and B12 def apart
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
megaloblastic anemia rbc?
hypersegmented neutrophils | RBC macrocytosis
78
what are the Microcytic Anemias?
``` SALTI sideroblastic anemia of chronic disease lead poisoning thalassemia iron deficiency ```
79
sideroblastic anemia
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
sideroblastic anemia rbc?
siderblasts in bone marrow | basophilic stippling in blood stream
81
t(X) of sideroblastic anemia
pyridoxine
82
Lead Poisoning symptoms?
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
Lead Poisoning t(x)
Dimercaprol, EDTA, succimer for the kiddos
84
what is wrong in lead poisoning?
lead inhibits ALA dehydratase and Ferrochetalase, so RBC not made rRNA degradation also inhibited so basophilic stippling seen
85
Beta Thalassemia caused by?
point mut at splice sites and promoter sequences (not a problem with DNA but a problem in mRNA!) which causes decreased Bglobin SYNTHESIS
86
what is alpha thalassemia caused by
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
Iron Def Anemia
due to: bleeding, malabsorption, malnutrition, increased demand(pregnancy) needed for ferrochetalase enzyme labs: decreased iron, decreased ferritin, increased TIBC
88
symptoms of Iron Deficiency Anemia
PICA, koilonychia (spoon nails) maybe glossitis, cheilosis, Plummer-Vinson (esophageal webs + dysphagia)
89
Bortezomib, Carfilzomb (in FA not in sketchy!)
proteasome inhibitor, stops cell cycle at G2/M used for MM and mantle cell lymphoma AE: peripheral neuropathy and Herpes Zoster reactivation

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