CP Flashcards
Niemann-Pick Disease
sphingomyelinase
Foamy
Gaucher Disease
glucocerebrosidase
Wrinkled paper
Factor deficiency with no symptoms
with dramatic PT prolongation
XII
Which MLL in adults vs Kids
9;11 kids (9 months baby)
4;11 in adults
DEK NUP2
MLD and basophilia
Factor ? deficiency in Ashkanizi kews?
11
Renal Medullary Carcinoma in who
Sickle cell trait
CBC in sickle cell trait
completely normal
G6PD pathway?
pentose phosphate (hexose monophophate)
Pyruvate Kinase pathway?
Glycolytic
Sucrose lysis test
PNH screen
Acidified Serum (Ham’s)
old PNH test
False Neg G6PD test
recent attack (too many retics) or female heterozygote
Fe def anemia vs Beta thal trait
inc RDW in Fe def anemia (both microcytic/hypochromic)
Reticulocyte index formula
= reticulocytes × patient HCT/normal HCT
2 RBC types with inc RNA
basophilic stippling and retics
Alkaline gel
origin –> CSF-A
CEOA2, SDGLe
hgb absorbance
340 nm
met hgb absorbance
340+ 200 (cyan+ met) = 540 nm
met hgb charge
M=3+
M flip
Monitor TTP response
Plt counts, NOT ADAMTS13 (remains low)
Abciximab target
pattern in aggre
targets GPIIb/IIIa
looks just like glanzmann’s (only ristocetin response)
Ticlodipine
target ADP receptor
Reverse warfarin effect
Prothrombin gene concentrate + vitamin K
A Mono L Flow Phenotype
Consistent?
Negative?
vs
CMML Flow Phenotype
Decreased?
Aberrant?
Consistent = CD33 (BRIGHT) and CD64
Other = CD11b, CD13, HLA DR
Negative = CD34
vs
in CMML
Decreased = CD36, CD14, CD13, CD64
Aberrant = CD56
Acute Promyelocytic Leukemia Flow Phenotype
Positive:
Absent:
Aberrant:
Positive: Bright CD33, variable CD13, CD117
Absent: CD34 and HLA-DR
Aberrant: CD2 and CD56
AEL markers?
CD71 and Glycophorin A
Marker TCRHRLBCL vs NLPHL
NLPHL = EMA+
CD4 and CD57+ T cell rossettes (FHTcell)
Cold agglutinins
What Ab kind?
Situations?
Auto-anti-I
1) Cold agglutinin disease
2) Mycoplasma pneumoniae infection
Auto-anti-i
1) Associated with infectious mononucleosis
2) Less often a problem than auto-anti-I
iadult phenotype
1) Uncommon persistence of i antigen in adults
Beta vs Alpha Thal MCV
Beta = bad = 55-65 alpha = 65-75
Alpha thal trait HPLC
all normal (normal F and A2)
Sickle Cell Trait HPLC
Hgb A (50-60%) and Hb S (35-45%)*******
If with alpha-globin gene deletion(s), Hb S < 35%
If β⁺ thalassemia, % Hb S > % Hb A
If with β⁰ thalassemia, almost all hemoglobin is Hb S, same phenotype as sickle cell disease (~ Hb SS)
Diamond-Blackfan Anemia
Normal** bone marrow cellularity
Macrocytic anemia with erythroblastopenia*****
Well-preserved granulocytic and megakaryocytic maturation
Fanconi Anemia tests
Chromosomal breakage (typically tests peripheral blood lymphocytes); Cells are stimulated and exposed to diepoxybutane &/or mitomycin C
Bernard soulier vs VWD
BSS = giant plts
Hairy Cell Leukemia phenotype
Annexin-A1, CD123, TRAP, CD103, BRAF, CD200
bright: CD103, CD25, CD11c, and CD22
KMT2A (a.k.a. MLL) rearrangement is most common in __________, who often present with _____________
infants
very high white blood cell count and higher rate of CNS involvement
Testing for red cell G6PD activity - when?
best performed when patient not hemolyzing; false negative results because ofadequate G6PD activity in reticulocytes
Serum and plasma tubes
Serum
Red: No anticoagulant –> clots –> all fibrinogen used up
Plasma
Lavender: Treated with EDTA.
Blue: Treated with citrate.
Green: Treated with heparin.
Serum
Plasma minus fibrinogen
What RBC parameter unaffected in CAIHA
Hb, WBC, plts all unaffected
clumps counted as one, so RBC goes down, so MCH and HCT abnormal
Not included in DIC panel
PTT
HLH criteria
only molecular needed if present
otherwise
5 of 8 clinical and laboratory criteria required for diagnosis
Fever Splenomegaly Cytopenias Hyper triglyceridemia &/or hypo fibrinogenemia Serum ferritin > 500 µg/L Hemophagocytosis Low or absent NK-cell activity Soluble CD25 (sIL-2 receptor) > 2,400 U/mL
SLE cells
Neuro Lupus
S LE –> LE cells
NPSLE due to cytokines (IL6)
EBV pos lung lymphoma
lymphomatoid granulomatosis
more EBV pos cells –> higher grade
RDD histiocyte
S100 and CD68
Null lymphomas
PEL and ALCL
serous atrophy of BM aka
gelatinous transformation
ATLL immunophenotype
mature T cells
CD2(+), CD3(+), CD5(+), TCR-α/β(+)
CD7(-) or dim
~ 90% of cases are CD4(+)
4 and 25 coexpression
AITL immunophenotype
CD2(+), CD3(+), CD5(+), βF1/TCR-αβ(+)
± aberrant loss or reduced expression of CD7
Usually CD4(+) T cells have follicular helper T-cell immunophenotype in most cases
CD10(+), Bcl-6(+), CXCL13(+), CXCR5(+), PD-1(+)
Hepatosplenic T-cell lymphoma (HSTCL)
Most cases TCR-γδ(+)
TCR-γδ(+) most reliably determined by flow cytometry
CD2(+), CD3(+), CD7(+), CD16(-/+), CD56(+/-)
KIR(+), CD94 (dim + or -)
CD4(-), CD8(-),CD5(-), AND CD57(-)
Unusual variations include CD5 expression
CD57+ in TLGL-L
Acanthocytes
equally spaced
A–> Abeta lipoproteinemia
Arterial Thrombosis
A –> ACA (anticardiolipin antiobody) syndrome
A and V
LAC –> only venous
thrombin time
bypasses everything before thrombin (only prolonged in heparin or thrombin inhibitor)
Warfarin OD
Factor V unaffected, only in liver failure
Childhood Myelodysplastic Syndrome (Refractory Cytopenia of Childhood)
Persistent cytopenia(s) during childhood
Refractory neutropenia or thrombocytopenia most common; isolated refractory anemia rare
Blasts: < 2% in peripheral blood; < 5% in bone marrow
Dysplasia in 2 lineages (erythroid, granulocytic, megakaryocytic) or ≥ 10% in single lineage
iron storage in BM and reflected in the serum
ferritin
elevated in ACD (since there is trapping in the BM)
dec in IDA
Type II vWD: _____________ defects of vWF
Qualitative defects of vWF
Type 2A vWD
2A –> Absent HMWMs and IMWMs
Most common type II variant
Mutation affects platelet to platelet adhesion
Impaired vWF multimer assembly; results in decreased HMWMs and IMWMs
Type 2B vWD
Increased binding 2BGpIb
Desmopressin contraindicated in type 2B vWD
Spontaneous binding of vWF to platelets leads to depletion of HMWMs and formation of platelet aggregates
Platelet aggregates are removed from circulation, leading to thrombocytopenia
Type 2M vWD
M: multimers still present
Decreased vWF-dependent platelet adhesion
No deficiency of HMWMs and IMWMs
Type 2N vWD
N: nearly hemophiliac
Markedly decreased binding affinity for FVIII
Mutation leads to impaired interaction between vWF and FVIII –> enhanced clearance and low circulating levels of FVIII
Platelet-type or pseudo-vWD
Defect on Platelet
similar phenotype as type 2B vWD
Decreased platelet count
Decreased vWF activity out of proportion to decrease in vWF:Ag
Decreased vWF antigen
vWF:RCo/vWF:Ag ratio < 0.5-0.7
Absence of HMWM on vWF multimer analysis
Increased response to low-dose ristocetin-induced platelet aggregation (RIPA)
Mega Marker
CD61
Erythro Marker
CD71
PAS (cytoplasmic)
B-PLL
Monoclonal B cell, lacks distinctive immunophenotypic features
Primary Cutaneous Follicle Center Lymphoma
Bcl-6(strong +)
CD10 and Bcl2-2 can be negative and often negative
PCFCL that are CD10(+) and Bcl-2(+) likely carry t(14;18)(q32;q21)
One Symptom of AITL
Follicular helper T cells upregulate CXCR5 and CXCL13
CXCL13 promotes B-cell recruitment through adherence of B cells on high endothelial venules (HEV)
CD21(+) follicular dendritic cells expand around HEV
Leads to B-cell expansion, plasmacytic differentiation, and hypergammaglobulinemia
AITL morphology
Marked proliferation of arborizing HEV with Increased proliferation of follicular dendritic cells (FDC), usually around HEV
Partial or complete effacement of architecture; perinodal infiltration common
Cells with clear to pale cytoplasm & distinct cell membranes
Often form small clusters around follicles and HEV
Small reactive lymphocytes, plasma cells, eosinophils, and histiocytes
± immunoblasts of B-cell lineage; can be prominent
± Reed-Sternberg + Hodgkin (RS+H)-like cells of B-cell lineage; usually EBV(+)
AITL Pts at increased risk for?
developing another lymphoma
Diffuse large B-cell lymphoma (DLBCL) is most common
Usually EBV(+)
EBV(+) DLBCL can precede diagnosis of AITL
AITL Phenotype
aberrant loss or reduced expression of CD7
Usually CD4(+) and CD8(-)
CD10(+), Bcl-6(+), CXCL13(+), CXCR5(+), ICOS(+), &/or PD-1(+)
Normal CD4:CD8 ratio is common
Due to reactive T cells that outnumber neoplastic T cells
Pattern of HCL, SMZL, and GDHSTCL in BM
interstitial and sinusoidal
esp sinusoidal –> SMZL, and GDHSTCL
APL
HLA DR neg
CD34 Neg
CD33 Pos
refrac cytopenia of childhood vs aplastic anemia
lack of erythroids + adipocytosis of marrow = aplastic anemia
CLL immunophenotype
Weak monotypic surface Ig, weak CD20 –> absence of FMC7
Pos: CD23, CD5
Argatroban
direct thrombin (IIa) inhibitor
Fondaparinux
indirect Xa inhibitor
Rivaroxaban, apixaban and edoxaban
direct Xa inhibitor
PCV of castlemann with increased?
IL6
Types of LyP
Type A (mixed infiltrate) -Few scattered large cells (RS or multinuc), polymorphous inflammatory cells
Type B (mycosis fungoides-like)
- Cannot be separated from MF by histology or immunohistochemistry
- Type B LyP spontaneously regresses, unlike MF
Type C (ALCL-like) -Cannot be separated from ALCL by histology or immunohistochemistry
Type D (cytotoxic T-cell variant)
- Marked epidermotropism and CD8(+)
- Mimics aggressive epidermotropic CD8(+) cytotoxic T-cell lymphoma
- MUM1 focal to diffusely (+)
Type E (angioinvasive variant) -Angioinvasive infiltrates of medium-sized atypical lymphocytes
one main diff between cut ALCL and LyP Type C?
clinical, if it regresses –> LyP
