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genetics > Haem Onc > Flashcards

Haem Onc Flashcards

1
Q

What prognostic scoring system is used in mds

A

Greenberg et al 2012 ipss-r

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2
Q

Ipss-r good cytogenetic risk group

A 
Normal
Del 5q
Del 12p
Del 20q
Double with del 5q
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3
Q

Ipss-r very good cytogenetic risk

A

-y

Del 11q

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4
Q

Ipss-r intermediate cytogenetic risk group

A 
Del 7q
\+8
\+19
 I(17q)
Any other single or double
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5
Q

Ipss-r poor cytogenetic risk group

A

Complex - 3 abns
-7
Inv(3) etc
Double inc -7/del 7q

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6
Q

Ipss-r very poor cytogenetic risk group

A

Complex >3 abns

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7
Q

Main type of Cato abnormality seen in mds

A

Mostly numerical abnormalities, structural rearrangements rare

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8
Q

What is 5q- syndrome (mds)

A

Macrocyctic anaemia
Older females
Good survival
Treat with lenalidomide

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9
Q

What is minor cytogenetic response in cml

A

> 35% ph cells

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10
Q

What is partial cytogenetic response in cml

A

1-35% ph cells

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11
Q

What additional cyto abnormalities are seen at blast crisis CML

A

+der 22, i(17q), +8, ,+19

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12
Q

What is imatinib

A

Tki, tightly holds tk fusion in inactive state and blocks ATP

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13
Q

Imatinib side effects

A

Cramps,nausea, diaroeah. Anaemia

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14
Q

How many cml patients show clonal evolution at blast crisis

A

80%

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15
Q

What is the outcome of Bcr-abl fusion product

A

Elevated and disregulated TK leads to uncontrolled proliferation and inhibition of apoptosis

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16
Q

A response to imatinib would be shown by what kind of monitoring of Mrd response? Ie: when expect mmr etc

A

CHR in 3 months, PCyR 6 months, CCyR 12 months, cMR 18 months

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17
Q

Standard dose of imatinib

A

400mg

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18
Q

How do you ‘cure’ cml

A

SCT- offered those unresponsive to TKI or in AP or BC

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19
Q

Differences between binding properties of nilotinib and dasatinib on Bcr-abl fusion

A

Nilotinib bind inactive protein, dasatinib bind active conformation

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20
Q

What is benefit of dasatinib over imatinib and nilotinib

A

Not as stringent therefore can be used for all TKD mutations seen except T315L

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21
Q

Side effect of nilotinib

A

Cardiac rhythm, glucose regulation, MDT, MDN,A

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22
Q

Side effects dasatinib

A

Pleural effusions in 25%, MDN

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23
Q

What are NICE cml treatment recs

A

Imatinib or nilotinib first line, nilotinib fir imatinib resistant patients, dasatinib not rec

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24
Q

What is the most resistant TKI mutation

A

T315L

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25
Q

What level Mrd can rq Pcr detect down to

A

5 log reduction

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26
Q

What can Mrd monitoring in cMl indicate

A

Treatment resoonse and compliance

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27
Q

When is Abl kinase domain mutation status testing rec?

A

If milestones for response not reached or acquire secondary resistance

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28
Q

Who 2008 has how many classifications of lymphoma

A

> 50

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29
Q

Definitely difference between hodgkins and non Hodgkins lymphoma

A

Reed steinberg cells present in hodgkns

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30
Q

2 subtypes of NHL and percentage of each

A

Low grade/indolent 20-40% and high grade/aggressive 60-70%

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31
Q

3 subtypes of burkitts

A

Sporadic, endemic and immunodeficiency derived

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32
Q

IgH gene breakpoint

A

14q32

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33
Q

Rea seen in burkitts lymphoma

A

(8;14)(q24;q32) in 85%

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34
Q

Rea seen in FL

A

T(14;18)(q32;q21) in 80%. IgH-bcl2

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35
Q

What is clinical course of FL

A

Mostly indolent but 60-80% can progress to DLBCL

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36
Q

What is the status of neoplastic cells expressing bcl2

A

Resistant to apoptosis

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37
Q

Which additional cyto abns in FL indicate poor prognosis

A

6q23-26 abn and 17p abn and 9p21 (p16) abn

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38
Q

Rea seen in MCL

A

T(11;14)(q13;q32). IgH- Ccnd1

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39
Q

Result of IgH-ccnd1 fusion in MCL

A

IgH enhancer stimulate ccnd1 exp -> accelerate passage through G1-> cells divide before mature

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40
Q

Secondary abns in MCL with IgH-ccnd1 fusion

A

Gain/rea of Myc : aggressive. Del13q14, delp53, del ATMgain 3q26

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41
Q

Difference between IgH-Myc translocation X seen in BL and DLBCL

A

BL usually simple karyotype, DLBCL complex karyotype

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42
Q

Rea seen in DLBCL

A

T(14;18)(q32;q21) IgH-bcl2 , t(3;14)(q27:q34),IgH-bcl6, t(8;14)(q24;q34) IgH- Myc

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43
Q

3 subtypes of MzL

A

MALT (see after H.pylori infection), splenic (spleomrgaky,BM involvement), nodal (advanced stage disease)

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44
Q

Rearrangements seen in MALT

A

Birc3-malt1 t(11;18), IgH-malt1 t(14;18), IgH-bcl10 t(1;14)

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45
Q

Abnormalities seen in splenic MZL

A

Gain or partial gain of 3,12, del 17p

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46
Q

Rea seen in ALCL

A

T(2;5) Alk-npm and t(1;2) tpm3-alk

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47
Q

Example of a T cell nhl

A

Anaplastic large cell

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48
Q

Which cell fraction is affected in HCL

A

Cd19+

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49
Q

What is myeloma

A

Clonal expn of transformed plasma cells

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50
Q

Myeloma is seen increased incidence in which sex and in which ethnic population

A

Males and 2x higher in African American than Caucasian

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51
Q

What is mgus

A

Precursor state to MM, non malignant, assymptomatic, risks of progression to MM

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52
Q

What is smouldering myeloma

A

Inbetween MM and mgus, stable plasma cells no lesions

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53
Q

Which 2 primary genetic events seen in MM?

A

In either/or category over disease duration. 1. Hyperdiploidy : elderly, favourable. 2. Non hyper diploid: more unfavourable IgH-ccnd1 (neutral prog) IgH-fgfr3, IgH-maf (both poor prog)

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54
Q

What scone art genetic events seen in MM

A

P53 loss: v poor, Chr 1 abnormalities: poor, del 12p: poor, del 13q (associated with IgH-fgfr3)

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55
Q

% mds that are cyto genetically abnormal

A

50%

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56
Q

Disadvantage of snp arrays in mds

A

Not detect balanced EG Mecom rearrange to which are poor risk. Not distinguish separate clones, low level mosaic missed

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57
Q

Examples of genes mutated in mds

A

Haferlach et al 2014- deep sequencing and aCGH found 47 genes sit mutated , 90% mds had at least 1 mutation- eg tet2, asxl1, runx1, dnmt3a

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58
Q

In AML what is defined as complex karyotype

A

3 or more abns

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59
Q

% AML in adult with abnormal cyto

A

55%

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60
Q

% child AML with abnormal cyto

A

78%

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61
Q

What happens in CBF AML?

A

The fusion proteins still bind but activation is lost via Dom-neg inhibition -> increased survival

62
Q

Which treatment used for t(8;21) in AML

A

Cytarabine

63
Q

Effect of cKIT mutation in CBF AML

A

Poor prognosis

64
Q

Fab type for t(8;21)

65
Q

Rea seen in APML

A

T(15;17)(q24;q21) pml-rara

66
Q

Which rara rea are resistant to ATRA

A

T(11;17)(q23;q21) plzf-rara, t(11:17)(q13;q21) and t(5;17)

67
Q

How does pml-rara fusion act?

A

Inhibit differentiation and increase cell self renewal. Rara Binds DNA and represses transcription of target like normal RARA action but does NOT respond to signal induction of genes so they remain repressed. PML is also disrupted. PML normally blocks cell growth -> apoptosis but fusion PML does NOT do this.

68
Q

What is diagnosis of DIC in APML?

A

Disseminated intravascular coagulation -> activation of clotting cascade which forms blood clots in small vessels-> damage and bleeding (consumes clot factors)

69
Q

What is ATRA?

A

Bind PML-rara -> diassociate-> down regulate

70
Q

What is the gene fusion seen in t(9;11) in AML

71
Q

Which mll Rea has better prognosis (int) in aml?

A

T(9;11) mllt3-mll

72
Q

Fusion seen in AML with t(6;9)(p23;q34) and prognosis

A

Dek-nup214. Poor prognosis

73
Q

Which recurrent Rea in AML is present in AML with trilineage dysplasia?

A

Mecom rearrangements

74
Q

Fusion seen in AML with inv3

A

Rpn1-Mecom

75
Q

Which Rea is seen in megakaryoblastic AML M7 and prognosis. Which syndrome is this increased in?

A

T(1;22) rbm15-mkl1. Int prognosis , Down syndrome

76
Q

% AML classified as therapy related

77
Q

What is myeloid sarcoma

A

Tumour mass of myeloid cells at site other than BM.

78
Q

What is TAM

A

Transient abnormal myelopoiesis seen in 10% T21 neonates.

79
Q

What is gene mutation seen in tAM

80
Q

Prognosis guidelines recommended for child AML

A

Harrison et al 2099

81
Q

AML paediatric good prognosis markers?

A

T(8;21), inv(16)

82
Q

AML paediatric intermediate prognosis markers?

A

All not in other categories

83
Q

AML paediatric poor prognosis markers?

A

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

84
Q

Adult AML good prognostic cyto markers

A

T(15;17), inv(16), t(8;21)

85
Q

Adult AML poor prognostic cyto markers

A

Mecom, complex 4 or more, mll except t(9;11) and t(11;19), -5/5q, -7/7q, t(6;11), t(9;22), -17/17p

86
Q

Molecular poor markers in AML

A

Flt3itd, mll-Ptd

87
Q

Molecular good risk marker in AML

A

Cebpa, npm1 when flt3 negative

88
Q

Where is flt3

89
Q

What is fkt3

A

Receptor TK

90
Q

Proportion normal AML with flt3 mutation

91
Q

What is result of flt3-itd

A

In frame insertion exon 14+15. Loss structure->loss Of activation of flt3

92
Q

Result of flt3 mutation

A

Folding out of activation loop -> constitutive action-unclear prog

93
Q

Which cyto categories is flt3 abnormality most common in

A

T(15;17), ank, t(6;9)

94
Q

Can flt3 be used to monitor Mrd

A

No- can be lost/gained in progression

95
Q

Where is cKIT located

96
Q

Disadvantages of using cyto in AML diagnosis

A

Not detect cryptic, resolution hard to determine bkpts, may be underlying molecular mech

97
Q

Where is npm1 located

98
Q

Example of familial AML

A

fAML mutated cebpa. AD. Near complete penetrance, good prog. Ank and M1 and M0 categories. Biallelic cebpa mutation-alternate 2nd hit- gata2. Approx 11% AML with cebpa mutation can be said to have 1 germ line mutation in cebpa.

99
Q

Utility of using CTCs in cancer

A

Early rapid diagnosis, treatment response, drug targets, severity/spread, development of drug resistance, series monitor avoiding biopsies,

100
Q

Example is CTCs system in clinical use

A

Cell search FDA approved for breast prostate colorectal cancer

101
Q

Example of clinical app of CTCs

A

EGFR detection in lung cancer. Resistant mutations detected during therapy coinciding with refractory disease. BRAF in melanoma,

102
Q

Prevalence of jak2 mutations in PRV,ET and MF

A

PRV 95%, ET 50% and MF 50%

103
Q

Cyto findings in chronic neutrophilic leukaemia

A

90% cyto normal

104
Q

% cyto abns in PRV

A

20%. +8, +9, del 20q, del 13q, del 9p

105
Q

% PRV that progress to AML

106
Q

% cyto abn in MF

107
Q

Prognostic Scoring system used for MF

A

DIPSS-plus. System includes cyto (8 diff indicators)

108
Q

Very high rates of death in MF seen with which cyto abns?

A

Inv(3) i(17q) >80% death

109
Q

Which myeloid leukaemia suggested with uncreased megakaryocytes in BM

110
Q

% cyto abnormals in ET

111
Q

Rea seen in chronic eosinophilia leukaemia and treatment option

A

FIPL1-PDGFRA fusion on 4q - sensitive to TKI

112
Q

Common mutations seen and Treatment for systemic mastocytosis

A

CKIT mutations- not respond to imatinib but do to other TKI such as dasatinib

113
Q

What is jak2

A

Non receptor TK involved in JAK/STAT pathway leads to increased proliferation and survival of malignant cells

114
Q

What is most common jak2 mutation

A

V617F gain of function -> release auto inhibition

115
Q

Location of jak2

116
Q

Which mpn disorders can have mpl mutations

A

3-4% et, 4-8% MF, not seen PRV

117
Q

Mpl location and function

A

1p34 encode thrombopoeitin: regulates differentiation of Mega’s and pltlets

118
Q

Types of CALR mutation

A

36 types, ins and dels in exon 9

119
Q

CALR location

120
Q

Fgfr1 mutations seen in which eosinophilia syndrome

A

8p11 myeloproliferative syndrome.t(8;13) t(8;9) t(6;8). Not respond imatinib

121
Q

Which mpn have pfgfrB rearrangements and which treatment is used

A

aCML, CMML, CEL. Respond TKI

122
Q

What 2 disorders are classified as mds/mpn? What characteristic genetic abnormalities are seen?

A

CMML: cmml1 and 2, cyto abn 20-40% and RAS mutation in 30-40%. JMML: 30-40% cyto abn and RAS mutation common

123
Q

Utility of cyto analysis in mpn?

A

Cyto not essential but useful to rule out AML, CML ph+ and mds. Can detect rare reas such as t(5;12) seen in cmml with eosinophilia. Fish useful to detect cryptic Rea in eosinophilia which resound to TKI

124
Q

3 members of Ewings family of tumours

A

Ewings: ass with bones, PNET: brain and Askins: chest wall

125
Q

Where is gene EWSR1

126
Q

Rearrangement ass with Ewing sarcoma

A

T(11;22)(q24;q12). EWS-FLI1 in 85%

127
Q

Result of ewsr1-fli1 fusion in Ewing sarcoma

A

constitutive exp from native ewsr1 promoter.

128
Q

Example of non ETS fusion in Ewings

A

EWS-ZSG - intrachromosomal Rea para inversion of 22q12

129
Q

Why is early diagnosis of Ewings so important

A

Many illnesses appear the same therefore difficult to detect in early stages and is v aggressive.

130
Q

List techniques used in tumour mutation analysis

A

Ngs- panels eg CRUK lung cancer, mutation analysis Braf melanoma, egfr, ALK Rearrangements lung cancer. aCGH. Snp array. Expression arrays. CTCs

131
Q

Example of mature B cell neoplasm

132
Q

Haematological characteristics of CLL

A

Proliferation and accumulation of mono morphic small round b-lymphocytes. Mature yet disfunctional b cells : prevent haem of other normal cells

133
Q

Clinical course of CLL

A

1 premalignant . 2. CLL 3. Richter’s syndrome, DLBCL

134
Q

Poor risk CLL markers

A

P53, ATM deletions,

135
Q

What test is useful to investigate atypical CLL

A

Check for T(11;14) to exclude MCL. (Differential diagnosis)

136
Q

Ngs has identified possible new genes important in CLL- examples

A

BIRC3, NOTCH1,

137
Q

CLL trials currently running

A

RialtO, FLAIR

138
Q

Phenotype f ALL

A

General weak/fatigue, anaemia, fever infections, wt loss bruising

139
Q

% childhood leukaemia that is ALL

140
Q

ALL trials

A

Interfant, uKALL-2011, ALL14

141
Q

Bcr-Abl fusion seen in ALL

A

P190 (75%)- only in de novo ALL p210(25%-also seen in cml blast crisis)

142
Q

Number of chrs in HeH

143
Q

Number chromosomes in near haploid

144
Q

Number chromosomes in low hypodiploidy

145
Q

Number chromosomes in high hypodiploidy

146
Q

Where is TCF3 commonly rea in ALL

147
Q

Most common IGH rearrangement in ALL

A

T(X;14) IGH-CRLF2 cryptic. Common with + sex chromosome

148
Q

Describe ETV6-RUnX1 in ALL

A

Cryptic, often see loss of other Etv6 , fusion protein acts in don-Neg fashion and interferes with normal Runx1 transcription factor. Good prognosis. Common children

149
Q

IAMP21 in ALL:describe

A

> 5 copies, poor prog, ace age 9 years, rob(15;21) sees 2700 fold increased risk.

150
Q

Prognosis of IKZF1 mutation/del in all

A

Poor, in 80% ph positive

genetics (20 decks)

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