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FRCPath > Quick Fire Facts - Assorted > Flashcards

Quick Fire Facts - Assorted Flashcards

1
Q

What is the location of KMT2A?

A

11q23

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2
Q

What is the location of TCF3?

A

19p13

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3
Q

Karotype of BCR-ABL1?

A

t(9;22)(q34;q11)

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4
Q

Karyotype of ETV6-RUNX1?

A

t(12;21)(p13;q22)

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5
Q

Karyotype of RUN1T1-RUNX1?

A

t(8;21)(q21;q22)

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6
Q

Karyotype of AFF1-KMT2A

A

t(4;11)(q21;q23)

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7
Q

Karyotype of TCF3-HLF?

A

t(17;19)(q22;p13)

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8
Q

Karyotype of PBX1-TCF3?

A

t(1;19)(q23;p13)

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9
Q

What is the location of IGH?

A

14q32

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10
Q

What is the location of TP53?

A

17p13

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11
Q

What is the location of RB1?

A

13q14

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12
Q

Karyotype of CBFB-MYH11?

A

inv(16)(p13q22) (or t(16;16))

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13
Q

Karyotype of PML-RARA?

A

t(15;17)(q24;q21)

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14
Q

Karyotype of MLLT3-KMT2A?

A

t(9;11)(p22;q23)

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15
Q

Karyotype of DEK-NUP214?

A

t(6;9)(p23;q34)

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16
Q

Karyotype of RPN1-EVI1?

A

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

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17
Q

Karyotype of RBM15-MKL1?

A

t(1;22)(p13;q13)

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18
Q

What is the location of FLT3?

A

13q12

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19
Q

What is the location of ATM?

A

11q23

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20
Q

Karyotype of IGH-CCND1?

A

t(11;14)(q13;q32)

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21
Q

Karyotype of IGH-BCL2?

A

t(14;18)(q32;q21)

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22
Q

Karyotype of MYC-IGH?

A

t(8;14)(q24;q32)

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23
Q

What is the location of CCND3?

A

6p21

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24
Q

What is the location of MAFB?

A

20q11

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25
Q

What is the location of IGL?

A

22q11

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26
Q

What is the location of IGK?

A

2p12

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27
Q

Karyotype of MYC-IGL?

A

t(8;22)(q24;q11)

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28
Q

Karyotype of MYC-IGK?

A

t(2;8)(p12;q24)

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29
Q

Karyotype of IGH-BCL6?

A

t(3;14)(q27;q32)

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30
Q

Karyotype of MALT1-BIRC3?

A

t(11;18)(q21;q21)

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31
Q

Karyotype of IGH-MALT1?

A

t(14;18)(q32;q21)

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32
Q

Karyotype of IGH-BCL10?

A

t(1;14)(p22;q32)

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33
Q

What is the TAR location?

A

1q21

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34
Q

What is RBM8A associated with?

A

TAR

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35
Q

What is the location of NRXN1?

A

2p16.3

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36
Q

What is the locus for Mowat-Wilson?

A

2q22

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37
Q

What is ZEB2 associated with?

A

Mowat-Wilson

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38
Q

What is the location of VHL?

A

3p25.3

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39
Q

What is the locus of Wolf-Hirschhorn?

A

4p16.3

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40
Q

What is the locus of Cri-du-chat?

A

5p15.3-p15.2

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41
Q

What is the locus of Sotos?

A

5q35

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42
Q

What is NSD1 associated with?

A

Sotos

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43
Q

What is the locus of Cornelia de Lange?

A

5p13.2

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44
Q

What is NIPBL associated with?

A

Cornelia de Lange

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45
Q

What is the locus of Williams?

A

7q11.23

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46
Q

What is ELN associated with?

A

Williams

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47
Q

What is the location of GATA4?

A

8p23.1

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48
Q

What is the locus of Roberts?

A

8p21.1

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49
Q

What is ESCO2 associated with?

A

Roberts

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50
Q

What is the location of FGFR1?

A

8p12

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51
Q

What is the locus of CHARGE?

A

8q21

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52
Q

What is CHD7 associated with?

A

CHARGE

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53
Q

What is the locus of WAGR?

A

11p13

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54
Q

What is the PWS/AS locus?

A

15q11-q13

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55
Q

What is the location of NIPA1,NIPA2,TUBGCP5?

A

15q11.2

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56
Q

What is the location of CHRNA7?

A

15q13.3

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57
Q

What is the locus of Rubinstein-Taybi?

A

16p13.3

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58
Q

What is CREBBP associated with?

A

Rubinstein Taybi

59
Q

What is the locus of Miller Dieker?

A

17p13.3

60
Q

What is PAFAH1B1 associated with?

A

Miller Dieker

61
Q

What is the locus of Smith Magenis?

A

17p11.2

62
Q

What is RAI1 associated with?

A

Smith Magenis/Potocki Lupski

63
Q

What is the locus of Potocki-Lupski?

A

17p11.2

64
Q

What is the locus of HNPP?

A

17p12

65
Q

What is the locus of CMT1A?

A

17p12

66
Q

What is PMP22 associated with?

A

HNPP/CMT1A

67
Q

What is the location of NF1?

A

17q11.2

68
Q

What is the locus of RCAD/MODY?

A

17q12

69
Q

What is the location of TBX1?

A

22q11.21

70
Q

What is the location of CRKL?

A

22q11.21

71
Q

What is the location of MAPK1?

A

22q11.21-q11.22

72
Q

What is the location of SMARCB1?

A

22q11.23

73
Q

What is the locus of Phelan-McDermid?

A

22q13

74
Q

What are ARSA and SHANK3 associated with?

A

Phelan-McDermid

75
Q

What is the location of SRY?

A

Yp11.31

76
Q

What is the location of SHOX?

A

Xp22.33

77
Q

What is the locus of Bloom Syndrome?

A

15q26.1

78
Q

What is the locus of Ataxia Telangietasia?

A

11q22.3

79
Q

What is BLM associated with?

A

Bloom Syndrome

80
Q

What is ATM associated with?

A

Ataxia Telangiectasia

81
Q

What is the locus of Nijmegan BS?

A

8q21.3

82
Q

What is the location of FMR1?

A

Xq27.3

83
Q

What is the location of FMR2?

A

Xq28

84
Q

What is the location of XIST?

A

Xq13

85
Q

Name 2 variant RARA translocations

A

t(11;17)(q13;q21),
t(11;17)(q23;q21),
t(5;17)(q35;q21)

86
Q

Name a FAB class M4 AML

A

inv(16)(p13.1q22) CBFB-MYH11

87
Q

Name a FAB Class M2 AML

A

t(8;21)(q22;q22) RUNX1T1-RUNX1

88
Q

Name a FAB Class M3 AML

A

t(15;17)(q24;q21) PML-RARA

89
Q

Name a FAB Class M5 AML

A

t(9;11)(p22;q34) MLLT3-KMT2A

90
Q

Prognosis of t(12;21)(p13;q22) in ALL

A

Favourable

91
Q

Prognosis of Hyperdiploidy in ALL

A

Favourable

92
Q

Prognosis of t(9;22)(q34;q11) in ALL

A

Poor

93
Q

Prognosis of t(4;11)(q21;q23) in ALL

A

Poor

94
Q

Prognosis of hypodiploidy in ALL

A

Poor

95
Q

Prognosis of t(1;19)(q23;p13) in ALL

A

Intermediate

96
Q

Prognosis of t(17;19)(q22;p13) in ALL

A

Poor

97
Q

Prognosis of iAMP21 in ALL

A

Poor

98
Q

Prognosis of complex karyotype in adult ALL

A

Poor

99
Q

Prognosis of near triploidy in adult ALL

A

Poor

100
Q

Prognosis of t(8;21)(q22;q22) in AML

A

Good with high dose cytarabine in the consolidation phase

101
Q

Prognosis of inv(16)(p13.1q22) in AML

A

Good with high dose cytarabine in the consolidation phase

102
Q

Prognosis of t(15;17)(q24;q21) in AML

A

Good

103
Q

Prognosis of t(6;9)(p23;q34) in childhood AML

A

Poor (intermediate in adults)

104
Q

Prognosis of t(9;11)(p22;q23) in AML

A

Intermediate - better than AML with other 11q23 translocations

105
Q

Prognosis of t(4;14)(p16.3;q32) IGH-FGFR3 in MM

A

Poor

106
Q

Prognosis of t(11;14)(q13;q32) IGH-CCND1 in MM

A

Good

107
Q

Prognosis of t(14;16)(q32;q23) IGH-MAF in MM

A

Poor

108
Q

Prognosis of t(6;14)(p21;q32) IGH-CCND3 in MM

A

Good

109
Q

Prognosis of t(14;20)(q32;q11) IGH-MAFB in MM

A

Poor - may be very poor

110
Q

Prognosis of isolated 13q14.3 mono/biallelic deletion in CLL

A

Favourable

111
Q

Prognosis of trisomy 12 in CLL

A

Intermediate

112
Q

Prognosis of ATM deletion (11q23) in CLL

A

Poor

113
Q

Prognosis of TP53 deletion (17p13.1) in CLL

A

Poor

114
Q

Prognosis of CLL with IGH rearrangement?

A

Generally poor

115
Q

What grade is Burkitt Lymphoma?

A

High grade lymphoma

116
Q

What grade is Follicular lymphoma?

A

Low grade lymphoma

117
Q

What grade is Mantle Cell Lymphoma?

A

Low/Intermediate grade lymphoma

118
Q

What grade is DLBCL?

A

High grade lymphoma

119
Q

Prognosis of -Y in MDS

A

Very good (consider age related Y chrm loss)

120
Q

Prognosis of del(11q) in MDS

A

Very good

121
Q

Prognosis of del(5q) in MDS

A

Good

122
Q

Prognosis of del(12p) in MDS

A

Good

123
Q

Prognosis of del(20q) in MDS

A

Good

124
Q

Prognosis of del(7q) in MDS

A

Intermediate

125
Q

Prognosis of +8 in MDS

A

Intermediate

126
Q

Prognosis of +19 in MDS

A

Intermediate

127
Q

Prognosis of i(17q) in MDS

A

Intermediate

128
Q

Prognosis of -7 in MDS

A

Poor

129
Q

Prognosis of inv(3)/t(3q)/del(3q) in MDS

A

Poor

130
Q

Prognosis of complex kary of 3 abnormalities in MDS

A

Poor

131
Q

Prognosis of complex karyo >3 abnormalities in MDS

A

Very poor

132
Q

Prognosis of normal karytyope in MDS

A

Good

133
Q

Prognosis of 2 abn’s including del(5q) in MDS

A

Good

134
Q

Prognosis of 2 abn’s not including del(5q) or -7/del(7q) in MDS

A

Intermediate

135
Q

Prognosis of 2 abn’s including -7/del(7q) in MDS

A

Poor

136
Q

3 X-linked recessive disorders

A

DMD, BMD, SBMA, Androgen Insensitivity Syndrome, Fabry Disease, Hunter Syndrome

137
Q

3 X-linked dominant disorders

A

X-linked hypophosphatemia/Vit D resistant rickets, X-linked Alport Syndrome, Intercontinentia Pigmentia, Rett Syndrome, Oral-facial-digitial syndrome type 1

138
Q

Expansion size for Fragile X - full

A

> 200 rpts

139
Q

Premutation expansion for Fragile X

A

55-200 rpts

140
Q

Normal allele size for Huntingtons

A

Less than 27 rpts

141
Q

Intermediate expansion size for Huntingtons

A

27-35 rpts

142
Q

Incomplete penetrance expansion for Huntingtons

A

36-39 rpts

143
Q

Fully penetrant expansion for Huntingtons

A

40+rpts

144
Q

Expansions for juvenile onset Huntingtons

A

60+rpts

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