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aml/cml Flashcards

1
Q

describe the molecular name and characteristics (4) of t(8;21)

A

AML1-ETO aka RUNX1-Runx1t1 – . Aur rods, chloromas, often CNS+. Good prognosis

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2
Q

molecular name and characteristics(4): inv(16)/t(16;16)

A

CBFB-MYH11, eosinophils with basophilic granules, chloromas, CNS+, good prognosis

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3
Q

molecular name and characteristics of t(15;17)

A

PML-RARA– this is garnules/auer rods, DIC/bleeding, good prognosis (with ATRA and arsenic )

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4
Q

molecular and characteristics of abnormal 11q23

A

kmt2a- this is the infant, WBC, skin/CNS/gums, t-AML after a typo II inhibitor

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5
Q

what are the myeloid leukemia predispositions that increase risk of JMML

A

RASopathies– NF1, CBL syndrome, noonans

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6
Q

name 3 marrow failure syndromes that predispose for MDSz sn AML

A

severe congenital neutropenia, schwachman diamond, and fanconi anemia

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7
Q

neutropenia, pancreatic insufficiency, skeletal abnormalities- name disorder and gene

A

schwachman diamond- SBDS mutations

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8
Q

severe congenital neutropenia- another name for it and most common genes and what they do

A

kostmann syndrome. utations in ELA2 is most common. agranlocytosis. secondary activating mutations of GCSF receptor

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9
Q

gene for congenital amegakaryocytic thrombocytopenia

A

MPL (thrombopoietin receptor)

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10
Q

alkylating agents causing myeloid diseae– what is latency and cytogenetics

A

5-7 yard (long) cytogenetics are -7, del(7q), -5, del (5q) and complex cytogentics

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11
Q

radiation causing myeloid diseae– what is latency and cytogenetics

A

5-7 yard (long) cytogenetics are -7, del(7q), -5, del (5q) and complex cytogentics

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12
Q

topoisomerase inhibitors- name the drugs, latency, and cytogenetics (5)

A

etoposide > anthracyclines. short latency (1-2 years), usually KMT2aR but also 8;21, 15;17, 9;22, and inv(16)

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13
Q

3 surface receptors on AML in kid with T21

A

AMKL– CD41a, CD42, CD61

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14
Q

for kids with TMD, when do they usually get AML

A

by age 3

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15
Q

common presentation for AML in kid with T21

A

isolated thrombocytopenia

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16
Q

characteristic of APL that is high risk

A

WBC more than 10k

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17
Q

name 2 cytogenetic and 2 molecular findings for favorable or LR AML

A

cytogenetic: inv(16) or t(8;21). Molecular: NPM1, CEBPA

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18
Q

name 3 unfavorable or HR cytogenetic changes for AML

A

-7. 5q-, abn(3q)

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19
Q

def of primary induction failure for AML

A

more than 5% blasts after course 2

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20
Q

genetic finding commonly in AMML with eosinophilia

A

inv(16)

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21
Q

which type of AML commonly has myelofibrosis

A

acute megakaryoblstaic (in T21)

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22
Q

define RAM phenotype (immunophentoype and common genetic fusion)

A

bright CD56, dim (or negative) CD45, dim (or neg) CD38) and negative HLA-DR. Associated with CBFA2T3;;GLIS2 fusion

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23
Q

standard way to induce remission for AML

A

2 courses of intense (doxo + cytarabine, sometime with etoposide) and gemtuzumab

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24
Q

what is AML consolidation

A

high dose ara-C

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25
do you do a CNS evaluation in APL and why or why not
no- its very rare and high risk of bleed so only do it if Neuro symptoms and after coat resolves.
26
how to treat differentiation syndrome
steroid, hold ATRA until getting better
27
how to treat apl
ATRA+ arsenic trioxide (ATO) in induction an consolidation, high risk patients (based on WC) also get idarubicin
28
what 2 syndromes that present with pancytopenia and predispose to marrow failure/AML/MDS
fanconi and DKC
29
what 1 syndrome that present with anemia and predispose to marrow failure/AML/MDS
diamond blackfan
30
what 2 syndromes that present with neutropenia and predispose to marrow failure/AML/MDS
SDS, severe congenital neutropenia
31
what 2 syndromes that present with thrombovcytopenia and predispose to marrow failure/AML/MDS
congenital amegakaryocytic thrombocytopenia, familial platelet disorders
32
what level of anthracyclines is worrisome for cardiotoxicity
cumulative exposure of 450mg/m2 of doxo equivalents
33
definitive CML translocation
t(9;22)(q34;q11.2)
34
define CML blast crisis
need >20% blasts in marrow or blood, presents of extramedulary blasts, or presence of increased lymphoblasts in peripheral blood or marrow
35
size of CML fusion protein
p210
36
how to define cytogenetic response in CML
based on FISH. complete is none, partial is major <35%
37
how to determine molecular response in CML
based on pCR of ZBCR-ABL
38
common side effect of TKIs
growth delay and endocrine issues
39
name the 3 common markers of acute megakaryoblastivc leukemia and one missing thing
CD41, CD61, or CD42b, ABSENT mpo- red flag
40
what is the immunophenotype of APL
autoflouresce, bright 33, NEGATIVE HA-DR, 34 neg
41
t(8;21) in AML often has what weird expression re immunophenotype
CD19+
42
two subtypes of MPAL
bilinear or biphenotypic n(more common)
43
most common and second most common type of MPAL
T/meyloid, then B/myeloid
44
what type of cell: cd56
T cell
45
what type of cell: cd11b
myeloid
46
what type of cell: cd13
myeloid
47
CD14
myeloid
48
CD64 68
MYELOID
49
glycophorin A
erythroid
50
CD36
MEGAKARYOCYT
51
C41
MEGAKARYOCYTE
52
CD42 AND 61
MEGACARYOCYTE
53
CD117 IS AKA
C KIT- STEM CEL
54
what is erythrocyte adenosine deaminase testing for
diamond blackfan
55
what is immunoeractive trypsinogen testing for
schwachman diamond
56
what is NK cytotoxicity testing for
chediak higashi
57
cytogenetics common in AML with CNS diseae
t(8;21)
58
marrow with T(6;11) IS WHAT
AML, UNFAVORABLE
59
T(1;19) IS WHAT
all
60
OTHR: vimentin is
rhabdomyosarcoma
61
CD99 should make you think of
ewings
62
chromosome breakage is testing for
fanconis
63
leading cause of death for TAM in infants with T21
liver failure
64
3 risk factors for CNS involvement among pediatric patients with AML
age < 1, monsoon 7, and hyperleukocytosis at diagnosis

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