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Leuks Flashcards

1
Q

whats the incidence of adult AML

A

Adults: 2.5/100,000/yr; 65yrs; 25% acute leuks; 55% abn karyotype

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2
Q

Symptoms of AML

A

fatigue, shortness of breath, brusing, bleeding gums, recurrent infections, splenomegaly, tender bones

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3
Q

what inherited disorders have a predisposition to AML

A

Fanconi, Neurofibromatosis, familial platelet disorder, Down Syndrome

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4
Q

How does core binding factor work

A

RUNX1-CBFB form heterodimer (CBF) that binds target genes via RUNX1 transcriptional domain and regulate differentiation and cell survial.

fusion proteins allow CBF to bind to genes but transcriptional activation is lost (dominant negative inhibition) leading to differentiation arrest and inhibition of TP53 causing cell survival.

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5
Q

whats DIC

A

Disseminated intravascular coagulation. widespread activation of clotting cascade causing formation of clots in capillaries causing organ damage. The APL cells also release an enzyme that simultaneously breaksdown the clots causing excessive bleeding (can be fatal if not controlled/stopped)

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6
Q

whats RA (retinoic Acid syndrome)

A

occurs in patients treated with ATRA: caused by the differentiation of the APL cells

potentially serious consequence by fliud accumulation and retention in tissues. occurs during remission induction.

steriods given as a precaution.

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7
Q

what are the rearrangement for GATA2,EVI1 in AML

A

inv(3)(q21q26.2) or t(3;3)

2nd abns: -7, -5, complex

poor

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8
Q

discuss myeloid proliferation’s in DS

A

theres a 150 fold increase in AML incidence in DS less than 5yrs.

50% cases have M7: Acute megakaryoblastic leuk
all have GATA1 mutation

1) Transient abnormal myelopoesis TAM(10% DS newborns) 70-80% resolve in 3mths (20-30% devp AML 1-3 yrs later)
2) AML ass. DS. Devp in first 5yrs favourable outcome compared to children without DS

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9
Q

whats a monosomal karyotype

A

2 or more monosomies or 1 monosomy in addition to a structural abn

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10
Q

what are the favourable AML abns

A

Child hood: t(8;21) and inv (16)

adult: t(8;21) and inv (16) and t(15;17)

Mutated NPM1 & wt FLT3 or FLT3 low
Biallelic mutated CEBPA

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11
Q

what are the poor childhood AML abns (under 16yrs)

A

5q abns, -7, t(6;9), t(9;22), 12p abns

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12
Q

what are the poor adult AML abns (16-59)

A 
abn 3q (excluding t(3;5)(q21~25;q31~35)), 
inv(3)(q21q26), 
add5q/del5q/-5,
-7/add7q/del7q,
t(6;11), t(10;11), MLL rearr.
t(9;22).
-17/del17p.
complex (4 or more abns)
Monosomal karyotype
Mutated RUNX1, ASXL1, TP53
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13
Q

discuss FLT3 in AML

A

13q12. 1/3 AML, receptor tyrosine kinase.

ITD: internal tandem duplication: exon 14 and 15 in frame dup juxtamembrane domain (75-80%AML, 30-40% CN-AML). autophosphorylation of receptor and activation of FLT3. Poor prognosis (survival 20-25% at 4yrs)

TKD: tyrosine kinase domain: codon Asp835 and Ile836 (5-10%AML, 20-35% CN-AML). Unclear prognosis.

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14
Q

what chr abns are FLT3-ITD most often seen with

A

t(15;17), t(6;9), CN-AML

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15
Q

discuss CEBPA in AML

A

CCAAT/enhancer binding protein alpha. 19q13.3. 10% AML (90% CEBPA mut: CN-AML)

seen with FLT3-ITD (22-33%)

biallelic muts: favourable outcome (can be 1x germline and 1x somatic)

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16
Q

discuss NPM1 in AML

A

Nucleophosmin. 5q35.1 (53-60% CN-AML) generally mutually exclusive from rearrangements

exon 12: 4bp insertion: frameshift

lower relapse rate, better survival, improved treatment response.

seen with FLT3-ITD (40%)

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17
Q

discuss MLL-PTD

A

Partial tandem duplication (5-10% CN-AML, 90% +11)

spans exons 2-6 or 6-8.

associated with short remission

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18
Q

Name a FLT3 inhibitor

A

Sunitinib. AC220

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19
Q

name some candidate genes that are mutated in AML

A

TET2, DNMT3A,TP53, SF3B1, RUNX1, U2AF1, EZH2, WT1, IDH,

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20
Q

What are the good risk cyto in MDS IPSS-R

A

normal. del(5q). del(12p). del(20q). double including del(5q)

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21
Q

What are the intermediate risk cyto in MDS IPSS-R

A

del(7q). +8. +19. i(17q). any other single or double independent lones

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22
Q

What are the poor risk cyto in MDS IPSS-R

A

-7. abn3q (inv(3),t(3q),del(3q)). double including -7/del(7q). complex 3 abns

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23
Q

What are the very poor risk cyto in MDS IPSS-R

A

complex more then 3 abns

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24
Q

What are the very good risk cyto in MDS IPSS-R

A

-Y, del(11q)

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25
Q

what are the categories of MDS

A

MDS-SLD (single lineage): 10-20% MDS: survival: 66mnth: progression 5% AML

MDS-MLD (multilineage): 30% MDS: 33mnths

MDS- RS: 10% MDS: 6 yrs: 1-2%
MDS-RS-SLD
MDS-RS-SLD

MDS-EB (40% MDS)
MDS-EB-1 (5-9% blasts in BM): 16mnths: 25% AML
MDS-EB-2 (10-19% blasts in BM): 9mnths: 33% AML

MDS with isolated del(5q31): 145mnths (lenalidomide)

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26
Q

What gene mutations are detected in MDS

A

Histone function: EZH2, ASXL1.

DNA methylation: DNMT3A, ISH1,2, TET2

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27
Q

why carry out an SNP array for MDS

A

20% cases: LOH

abnormalities detected in 80% cases

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28
Q

discuss Chronic neutrophilic leukaemia

A

blood neutrophilia. Rare. splenomegaly. survival 6mnth-20yrs

90% chr Normal.

+8, +9, del(20q), del(11q14), del(12p)

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29
Q

discuss Chronic eosinophilic leukaemia

A

eosinophilia in PB, BM and tisues. Rare. 5yr survival 80%.

Need to distinguish from idopathic hypereosinophilia and PDGFRA,B, FGFR1 rearr

+8, i(17q)

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30
Q

discuss Polycythemia Vera

A

increase in red blood cell popn. 2.6/100,000/yr. survival over 10yrs. 20% t to AML/MDS

JAK2: 98%

20% abns: +8, +9, del(20q), del(13q), del(9p) (progression)

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31
Q

discuss myelofibrosis

A

pancytopenia due to fibrous connective tissue in BM. 1.5/100,000/yr. survival mnths-decades.

JAK2: 63%

30% abns:del(13q), der(6)t(1;6) MF markers
+8, +9, del(20q), del77q)/-7

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32
Q

discuss essential thrombocythaemia

A

sustained thrombocytosis in PB. 2.5/100,000/yr. survival 10-15yrs. 5% t to AML/MDS.

JAK2: 63%

5-10% abns: 8, +9, del(20q),

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33
Q

what abns are associated with myeloid and lymphoid eosinophilia

A

PDGFRA (4q12): cryptic 800Kb del of CHIC2–> FIP1L1-PDGFRA. responds to Imatinib

PDGFRB (5q33): t(5;12)(q33;p13) PDGFRB-ETV6. responds to Imatinib

FGFR1 (8p11): t(8;13) FGFR1-ZNF198. NOTrespond to Imatinib

PCM1-JAK2: t(8;9)(p22;q24): ? JAK2 inhibitor

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34
Q

discuss CMML

A

survival 20-40mnths, t to AML 15-30%:

persistent monocytosis. presence of auer rods. CMML-1, CMML-2

abns (20-40%): +8, -7/del7q, abn12p, i17q.

RAS muts 30-40%

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35
Q

discuss JMML

A

profileration granulocytes and monocytes. 1.3/100,000. 0-14yrs

NF1: 200-500 fold increase risk of developing JMML

prognosis poor (w.out BMT less than 1yr, moct die of organ failure). progression to AML 15-20%

abns (30-40%): -7/del7q

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36
Q

what is CML

A

myeloproliferative neoplasm that originates in the pluripotent stem cell and is associated witha BCR-ABL1 fusion. neutrophilic leukocytosis

1-2/100,000/yr. 50-60yrs. 15-20% all leuks

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37
Q

what are the 3 phases of CML

A

Chronic phase: accumulation of myeloid precusors and mature cells in the BM, PB and extramedullary sites. less than 5% blasts in BM.

Accelerated phase: increase in disease burden and in the frequency of precusor cells rather than terminally differentiated cells. hypercellular BM (10-19% blasts). clonal evolution of Cyto is seen.

Blast phase: rapid expansion of a popn of myeloid or lymphoid immature blast cells. over 20% blast in PB ot BM. cells infiltrate tissues.

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38
Q

what lineage is seen in in CML BP

A

70% cases: meyloid.

20-30% cases: lymphoblasts

can get mixed phenotype cells in BP

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39
Q

discuss the BCR bkpt in CML

A

5’BCR-3’ABL1.

major bkpt (exons 12-16): p210 protein in majority of cases.

(u-BCR (exon 17-20): p230- very raraely ocurs)

micor bkpt (exon 1-2): p190: seen in ALL (occasionally in CL- monocytosis- ?CMML.

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40
Q

what are the secondary abns in CML

A

+8 (50%)- seen transiently.
i(17q) (35%).
+Ph (30%)- seen transiently.
+19 (15%)

+21; -Y

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41
Q

which CML secondary abn is a reliable indicator of transformation

A

+19, i(17q), inv(3): reliable indicator

t(3;21)(q26;q22) EVI1-RUNX1: True transformation marker

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42
Q

what percenatges are cytogenetic CML response (BPG- Baccarani et al 2009)

A

No response: 96-100%

Minimal: 66-95%

Minor: 36-65% (to be reached by 3mnths)

Partial response: 35-1% Ph cells (to be reached by 6mnths)

Complete response: 0% Ph cells (to be reached by 1yr)

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43
Q

what s CML major molecular response

A

3-log reduction relative to baseline in 2 consecutive samples (to be reached by 18mnths)

now looking down to 4-log reduction

completer MR: no transcripts detected

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44
Q

what are the CML TKI

A

Imatinib. nilotinib. dasatinib. ponatinib. Bosutinib

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45
Q

whats the ABL1 mutation only Ponatinib is resistant to

A

T315I. (AKD: BCR-ABL1 kinase domain)

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46
Q

what is CLL

A

chronic mature B cell neoplasm: mature yet dysfunctional small round lymphocytes proliferate and accumulate in the PB, BM, spleen, liver.

most common leuk in adults: 2-6/100,00/yr. 72yrs.

5-10% transform into DLBCL (ricters)

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47
Q

what percentage of genetic abns are detected by FISH in CLL. what are the abns

A

over 80% detection rate Vs 40-50% by K.

del13q (50%). +12 (15%). delATM (15-20%). delTP53 (5-10%). del(6q26) POOR

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48
Q

discuss CLL del11q

A

11q22-q23.

up to 20Mb, can include BIRC3- may be ass w Fludarabine-refractory pats.

large lymphadenopathies–> progressive disease

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49
Q

discus del TP53 in CL

A

most frequently acquired abn after treatment. SHows shortest survival. doesn’t respond well to standard therapy:

alemtuzumab FDA approved treatment for Tp53 del

50
Q

discuss IGh rearr in CLL

A

in 20% CLL. ass w poor prognosis.

t(11;14). t(14;16). t(14;18). t(8;14)

51
Q

what treatment for CLL

A

incurable so watch and wait for onset of disease/ progression. then…

FR: fludarabine (purine analogue) and rutiximab (anit-CD20)

52
Q

what is MM

A

plasma cell neoplasm.

clonal expansion of a immunoglobin secreting, heavychain class-switched, terminally differentiated B cell that typically secretes a monoclonal immunoglobulin (paraprotein of M-protein).

Bone disease, impaired renal function, Anaemia

53
Q

what chromosomes are gained in hyperdiploid MM

A

3,5,7,9,11,15,19,21

54
Q

what treatment is given to MM

A

chemo, steriods, thalidomide, SCT

lenolidamide, bortezomib: promising signs

55
Q

whats the incidence of childhood ALL

A

3-4/100,000. (75% occur under 6yrs).

25% pediatric leuks

85%B-ALL, 15% T-ALL

15-20% children relapse

56
Q

whats the incidence of adult ALL

A
  1. 9-1.6/100,000 over 60yrs.
  2. 4-0.6/100,000 over 25-50yrs

6% adult leuks **ACGS guidelines >25yrs. many studies class adolescents (15-25 yr as adults)

75%B-ALL, 25% T-ALL

57
Q

clinical features of ALL

A

brusing, bleeding, pallor, fatigue, infection, spleno-, hepto-megaly

58
Q

discuss 9;22 ALL

A

24-4% childhood
25-30% adults

secondary abns: +Ph, del9p, HeH

Poor prognosis (often IKZF1 dels)

59
Q

discuss MLL ALL

A

60-80% infant. 38% childhood. 10% adult.

secondary abns:+8, +X, i(7q)

poor prognosis

60
Q

what are the chromosomes gained in ALL hyperdiploidy

A

4,6,10,14,17,18,21,X

25-30% childhood. 7% adults

(childrens COG: +4,7,10: low risk relapse)

61
Q

discuss hypodiploidy ALL

A

near haploidy: 23-29

low hypodiploidy: 30-39 (unique ass. Of this and TP53 mut- often constitutional)

high hypodiplody; 40-44

1, 11, 17 usually retained- so 4 copies if doubled up

62
Q

whats the prognosis of dic(9;20) in ALL

A

intermediate

63
Q

whats the prognosis of dic(9;12) in ALL

A

intermediate in childhood (moorman 2010).

good in adults.

64
Q

what percentage of childhood ALL have IGH rearrangemtns

A

8% (predom adolescents)

t(5;14) IL3-IGH

t(XorY;14) CRLF2-IGH: Poor prognosis

65
Q

what are the common breakpoints for T-ALL

A

35% TCR rearrangements

TCR A/D 14q11

TCR B 7q35.

TCR G 7p14

(partners: TLX1 (10q24), LMO1 (11p15), LMO2 (11p13)

66
Q

what cryptic rearrangement occur in T ALL

A

1p32 deletion: STIL-TAL1

t(5;14)(q35;q32 : TLX3-BCL11B

67
Q

what mutation is seen in Hairy cell leukemia

A

BRAF V600E

responds well to purine analogs: pentostatin, cladaribine

68
Q

What’s the incidence and abnormality rate of pediatric AML

A

Pediatric: 0.7/100,000/yr; less than 15yrs (peak in 1st yr); 15-20% acute leuks; 78% abn karyotype

69
Q

What percentage of CML at diagnosis have t(9;22)

A

90-95%

70
Q

What percentage of CML at diagnosis have a variant translocation (t(9;22;?)) or a cryptic translocation detectable by FISH or rt-PCR

A

5-10%

71
Q

Discuss the BCR-ABL1 gene product

A

Cytoplasmic protein with enhanced tyrosine kinase activity –> constitutive activation of several signal transduction pathways causing CML.

72
Q

How many cells are analysed at CML diagnosis

A

Rapid FISH: 100 interphase

T(9;22) +ve: analyse 3; score 7

T(9;22) -ve: analyse 10; score 10

73
Q

What’s the likely outcome for CML with a variant translocation

A

Similar to classical t(9;22) when treated with imatinib or other TKI

74
Q

What impact on prognosis does secondary abns at diagnosis in CML

A

At diagnosis don’t necessarily have impact on pt outcome, but their presence is a warning according to ELN guidelines

75
Q

What impact does deletions of ABL1, BCR or BCR-ABL1 on der(9)

A

Before imatinib: linked to adverts clinical outlook

Post imatinib: it nullifies the prognostic difference. Therefore it’s not mandatory to report der(9) deletions (BPG).

76
Q

How often follow up test CML

A

G-band marrow at 3 months and 6 months post treatment.

Every 6 months until CCgR achieved after which cyto shud not routinely be required (RTLas-PCR used instead)

77
Q

In terms of secondary abns what considered treatment failure in CML

A

Presence of an abnormality in two consecutive samples- implies emergence of new clone

78
Q

What abns are seen in Ph- cells in TKI treated CML

A

+8; abns of 7; sex chr abns

Pay particular attention to 5, 7, 8, 13, 20, X, Y

79
Q

According to Grimwade et al 2010 (AML) what’s meant by a single abnormality

A

Balanced translocation; trisomy; monosomy

80
Q

According to Grimwade et al 2010 (AML) what’s meant by 2 abnormalities

A

Gain of 2 chroms (including tetrasomy); gain of a derivative chromosome; unbalanced translocation leading to gain and loss of chrom material eg der(7)t(1;7)(q21;q22)

81
Q

Adult AML: t(6;11)(q27;q23) genes and prognosis

A

Adverse

KMT2A/MLLT4

82
Q

What are the breakpoints of t(6;11) in adult AML. And prognosis

A

T(6;11)(q27;q23)

Poor

83
Q

Adult AML: genes and prognosis t(10;11)(p12;q23)

A

Adverse

MLLT10-KMT2A

84
Q

What breakpoints for AML t(10;11)

A

T(10;11)(p12;q23)

Adverse

85
Q

Therapy-related AML: alkylation agents or irradiation. Discuss

A

Arise 5-7 yrs after therapy

Abn 5q and/or 7q

86
Q

Therapy-related AML: topoisomerase II inhibitors. Discuss

A

2-3 years after treatment.

Translocations: KMT2A or RUNX1

87
Q

What abnormalities are often seen in solid extra-medullary granulocytic sarcomas (w. Or w.out BM infiltration)

A

T(8;21)(q22;q22) or inv(16)(p13q22)

88
Q

What rearrangement must be looked for in biphenotypic leukaemia or leukaemia in infants (under 12months)

A

KMT2A or t(9;22) if biphenotypic- acute leuk

89
Q

If fanconi is confirmed or suspected what chromosomal abnormality should be looked for

A

-7/del7q or dup3q (MECOM probe)

90
Q

What clonal aberrations are common in Shwachman-Diamond Syndrome

A

:i(7)(q10) and del(20q)

May be transient and don’t neccessarily indicate MDS or imminent transformation to AML

91
Q

If see double minutes in AML what are most likely to be

A

Amplification a of MYC or MLL

92
Q

In paediatric AML who’s risk stratification is used by BPG

A

Harrison et al 2010

93
Q

In adult AML who’s risk stratification does BPG use

A

Grimwade et al 2010. (Age 16-59yrs)

94
Q

What’s the prognosis of ALL 7p12 abnormality

A

Poor IKZF1

95
Q

What the chr position of ALL IKZF1

A

7p12

96
Q

ALL: what’s classed as high hyperdiploidy

A

51-65 chroms

97
Q

In ALL what’s the definition of iAMP21

A

5 or more copies of RUNX1 signals corresponding to 3 or more star copies on a single abnormal chromosome 21

98
Q

What’s the new myeloid neoplasm: eosinophilia rearrangement in WHO2016

A

PCM1-JAK2

t(8;9)(p22;q24.1)

Responds to JAK2 inhibition

99
Q

What percentage of MDS have clonal abns

A

40%

100
Q

What therapy is used in cases of MDS with del(5q) as sole abnormality

A

Lenolidomide (50-75% cytogenetics response; 30-45% Complete CCy)

101
Q

What therapy is used in cases of MDS with chromosome 7 abnormalities

A

Azacitidine

102
Q

If apparently normal karyotype in AML when should inv(16) be considered

A

Haematologist reports bone marrow morphology consistent with inv(16)

Secondary abnormalities ass. With inv(16) seen: del(9q), +22

103
Q

Discuss MDS isolated del5q and TP53 mutation

A

TP53 associated with aggressive disease in MDS.
Appears to predict poorer response to Lenalidomide in pts with del(5q).

In del(5q) pts: TP53 status should be investigated to ID adverse subgroup of del5q

104
Q

What mutation is associated with MDS-RS

A

SF3B1. If have this favourable prognosis (if have low RS but this mut- still MDS-RS)

105
Q

Name some recurrent abns diagnostic of MDS

A

-7/del7q; -5/del5q; i(17p)/t(17p); -13/del13; del11q; idic(Xq13)

Del(12p)/t(12p); del(9q); t(11;16)(q23;p13.3); t(3;21)(q26.2;q22.1); t(1;3)(p36.3;q21.1); inv(3)(q21q26.2); t(6;9)(p23;q34)

106
Q

Why karyotype MPN

A

Not essential for diagnosis.
Abns are not usually specific. While normal karyotype=uninformative; chromosomal abns= diagnostically useful to confirm a clonal disorder. Evolution of karyotype strongly suggestive of transformation to MF or AML (abn 5q, 17p, 7)

107
Q

What mutation is seen in systemic mastocytosis

A

KIT D816V

108
Q

What defines a clone according to ISCN

A

2 or more with cells with same structural abn or gain

3 or more cells with same chromosome lost

109
Q

What gene mutation is strongly associated with CNL

A

CSF3R. T618I

110
Q

What gene mutation is associated with ring sideroblasts in MDS/MPN-RS-T and MDS-RS

A

SF3B1

In MDS/MPN-RS-T it is seen with JAK2, MPL or CALR

111
Q

What percentage of MDS patients have gene mutations

A

80-90%

112
Q

What’s happens to the genes involved in AML inv(3)

A

GATA2 enhancer activates MECOM and simultaneously confers GATA2 haploinsufficiency.

113
Q

Based on preliminary data: what secondary abns support t(9;22) in an acute leuk being dnAML instead of CML-BP

A

Deletion of IGH, TCR

Deletion of IKZF1 and/or CDKN2A

114
Q

What percentage of children have iAMP21 and what’s the prognosis

A

2% esp. In older children with low WBC counts. Uncommon in adults

Advers prognosis that’s improving eith the use of intensive/aggressive therapy

115
Q

What’s ALL BCR-ABL1-like

A

B-ALL with translocations involving tyrosine kinase or cytokines receptors (CRLF2)

Association with an adverse prognosis, but repsonds to TKI

116
Q

What are some of the tyrosine kinases involved in the translocations in ALL BCR-ABL1-like

A

ABL1 (other partner to BCR); ABL2; PDGFRB; NTRK3; TYK2; CSF1R; JAK2

There are over 30 different partner genes described

All respond to TKI

Deletion of IKZF1 and CDKN2A/B often seen

117
Q

What gene mutations are seen in T-ALL: Early T-cell precursor lymphoblastic leukaemia

A

FLT3; NRAS/KRAS; DNMT3A; IDH1/2 (myeloid ass. Mutations)

NOTCH1; CDKN1/2 (typical T-ALL mutations)= INFREQUENT

118
Q

What mutation has prognostic significance in CMML

A

ASXL1

119
Q

What are the 9 functional categories of mutated genes in AML?

A 
Transcription factor fusions
The NPM1 gene
Tumour suppressor genes
DNA methylation related genes
Signaling genes
Chromatin remodelling genes
Cohesion complex genes
Spliceosome complex genes 
Myeloid transcription factor genes
120
Q

If setting up a AML gene panel what would be the kin genes to screen, according to ELN 2017

A

NPM1, CEBPA, RUNX1 (define disease)
FLT3 ITD & TKD
TP53 & AXSL1 (consistently poor prognosis)

Oncology (5 decks)

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