aml/cml Flashcards
describe the molecular name and characteristics (4) of t(8;21)
AML1-ETO aka RUNX1-Runx1t1 – . Aur rods, chloromas, often CNS+. Good prognosis
molecular name and characteristics(4): inv(16)/t(16;16)
CBFB-MYH11, eosinophils with basophilic granules, chloromas, CNS+, good prognosis
molecular name and characteristics of t(15;17)
PML-RARA– this is garnules/auer rods, DIC/bleeding, good prognosis (with ATRA and arsenic )
molecular and characteristics of abnormal 11q23
kmt2a- this is the infant, WBC, skin/CNS/gums, t-AML after a typo II inhibitor
what are the myeloid leukemia predispositions that increase risk of JMML
RASopathies– NF1, CBL syndrome, noonans
name 3 marrow failure syndromes that predispose for MDSz sn AML
severe congenital neutropenia, schwachman diamond, and fanconi anemia
neutropenia, pancreatic insufficiency, skeletal abnormalities- name disorder and gene
schwachman diamond- SBDS mutations
severe congenital neutropenia- another name for it and most common genes and what they do
kostmann syndrome. utations in ELA2 is most common. agranlocytosis. secondary activating mutations of GCSF receptor
gene for congenital amegakaryocytic thrombocytopenia
MPL (thrombopoietin receptor)
alkylating agents causing myeloid diseae– what is latency and cytogenetics
5-7 yard (long) cytogenetics are -7, del(7q), -5, del (5q) and complex cytogentics
radiation causing myeloid diseae– what is latency and cytogenetics
5-7 yard (long) cytogenetics are -7, del(7q), -5, del (5q) and complex cytogentics
topoisomerase inhibitors- name the drugs, latency, and cytogenetics (5)
etoposide > anthracyclines. short latency (1-2 years), usually KMT2aR but also 8;21, 15;17, 9;22, and inv(16)
3 surface receptors on AML in kid with T21
AMKL– CD41a, CD42, CD61
for kids with TMD, when do they usually get AML
by age 3
common presentation for AML in kid with T21
isolated thrombocytopenia
characteristic of APL that is high risk
WBC more than 10k
name 2 cytogenetic and 2 molecular findings for favorable or LR AML
cytogenetic: inv(16) or t(8;21). Molecular: NPM1, CEBPA
name 3 unfavorable or HR cytogenetic changes for AML
-7. 5q-, abn(3q)
def of primary induction failure for AML
more than 5% blasts after course 2
genetic finding commonly in AMML with eosinophilia
inv(16)
which type of AML commonly has myelofibrosis
acute megakaryoblstaic (in T21)
define RAM phenotype (immunophentoype and common genetic fusion)
bright CD56, dim (or negative) CD45, dim (or neg) CD38) and negative HLA-DR. Associated with CBFA2T3;;GLIS2 fusion
standard way to induce remission for AML
2 courses of intense (doxo + cytarabine, sometime with etoposide) and gemtuzumab
what is AML consolidation
high dose ara-C
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.
how to treat differentiation syndrome
steroid, hold ATRA until getting better
how to treat apl
ATRA+ arsenic trioxide (ATO) in induction an consolidation, high risk patients (based on WC) also get idarubicin
what 2 syndromes that present with pancytopenia and predispose to marrow failure/AML/MDS
fanconi and DKC
what 1 syndrome that present with anemia and predispose to marrow failure/AML/MDS
diamond blackfan
what 2 syndromes that present with neutropenia and predispose to marrow failure/AML/MDS
SDS, severe congenital neutropenia
what 2 syndromes that present with thrombovcytopenia and predispose to marrow failure/AML/MDS
congenital amegakaryocytic thrombocytopenia, familial platelet disorders
what level of anthracyclines is worrisome for cardiotoxicity
cumulative exposure of 450mg/m2 of doxo equivalents
definitive CML translocation
t(9;22)(q34;q11.2)
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
size of CML fusion protein
p210
how to define cytogenetic response in CML
based on FISH. complete is none, partial is major <35%
how to determine molecular response in CML
based on pCR of ZBCR-ABL
common side effect of TKIs
growth delay and endocrine issues
name the 3 common markers of acute megakaryoblastivc leukemia and one missing thing
CD41, CD61, or CD42b, ABSENT mpo- red flag
what is the immunophenotype of APL
autoflouresce, bright 33, NEGATIVE HA-DR, 34 neg
t(8;21) in AML often has what weird expression re immunophenotype
CD19+
two subtypes of MPAL
bilinear or biphenotypic n(more common)
most common and second most common type of MPAL
T/meyloid, then B/myeloid
what type of cell: cd56
T cell
what type of cell: cd11b
myeloid
what type of cell: cd13
myeloid
CD14
myeloid
CD64 68
MYELOID
glycophorin A
erythroid
CD36
MEGAKARYOCYT
C41
MEGAKARYOCYTE
CD42 AND 61
MEGACARYOCYTE
CD117 IS AKA
C KIT- STEM CEL
what is erythrocyte adenosine deaminase testing for
diamond blackfan
what is immunoeractive trypsinogen testing for
schwachman diamond
what is NK cytotoxicity testing for
chediak higashi
cytogenetics common in AML with CNS diseae
t(8;21)
marrow with T(6;11) IS WHAT
AML, UNFAVORABLE
T(1;19) IS WHAT
all
OTHR: vimentin is
rhabdomyosarcoma
CD99 should make you think of
ewings
chromosome breakage is testing for
fanconis
leading cause of death for TAM in infants with T21
liver failure
3 risk factors for CNS involvement among pediatric patients with AML
age < 1, monsoon 7, and hyperleukocytosis at diagnosis
