Quick Fire Facts - Assorted Flashcards
What is the location of KMT2A?
11q23
What is the location of TCF3?
19p13
Karotype of BCR-ABL1?
t(9;22)(q34;q11)
Karyotype of ETV6-RUNX1?
t(12;21)(p13;q22)
Karyotype of RUN1T1-RUNX1?
t(8;21)(q21;q22)
Karyotype of AFF1-KMT2A
t(4;11)(q21;q23)
Karyotype of TCF3-HLF?
t(17;19)(q22;p13)
Karyotype of PBX1-TCF3?
t(1;19)(q23;p13)
What is the location of IGH?
14q32
What is the location of TP53?
17p13
What is the location of RB1?
13q14
Karyotype of CBFB-MYH11?
inv(16)(p13q22) (or t(16;16))
Karyotype of PML-RARA?
t(15;17)(q24;q21)
Karyotype of MLLT3-KMT2A?
t(9;11)(p22;q23)
Karyotype of DEK-NUP214?
t(6;9)(p23;q34)
Karyotype of RPN1-EVI1?
inv(3)(q21q26.2) (or t(3;3))
Karyotype of RBM15-MKL1?
t(1;22)(p13;q13)
What is the location of FLT3?
13q12
What is the location of ATM?
11q23
Karyotype of IGH-CCND1?
t(11;14)(q13;q32)
Karyotype of IGH-BCL2?
t(14;18)(q32;q21)
Karyotype of MYC-IGH?
t(8;14)(q24;q32)
What is the location of CCND3?
6p21
What is the location of MAFB?
20q11
What is the location of IGL?
22q11
What is the location of IGK?
2p12
Karyotype of MYC-IGL?
t(8;22)(q24;q11)
Karyotype of MYC-IGK?
t(2;8)(p12;q24)
Karyotype of IGH-BCL6?
t(3;14)(q27;q32)
Karyotype of MALT1-BIRC3?
t(11;18)(q21;q21)
Karyotype of IGH-MALT1?
t(14;18)(q32;q21)
Karyotype of IGH-BCL10?
t(1;14)(p22;q32)
What is the TAR location?
1q21
What is RBM8A associated with?
TAR
What is the location of NRXN1?
2p16.3
What is the locus for Mowat-Wilson?
2q22
What is ZEB2 associated with?
Mowat-Wilson
What is the location of VHL?
3p25.3
What is the locus of Wolf-Hirschhorn?
4p16.3
What is the locus of Cri-du-chat?
5p15.3-p15.2
What is the locus of Sotos?
5q35
What is NSD1 associated with?
Sotos
What is the locus of Cornelia de Lange?
5p13.2
What is NIPBL associated with?
Cornelia de Lange
What is the locus of Williams?
7q11.23
What is ELN associated with?
Williams
What is the location of GATA4?
8p23.1
What is the locus of Roberts?
8p21.1
What is ESCO2 associated with?
Roberts
What is the location of FGFR1?
8p12
What is the locus of CHARGE?
8q21
What is CHD7 associated with?
CHARGE
What is the locus of WAGR?
11p13
What is the PWS/AS locus?
15q11-q13
What is the location of NIPA1,NIPA2,TUBGCP5?
15q11.2
What is the location of CHRNA7?
15q13.3
What is the locus of Rubinstein-Taybi?
16p13.3
What is CREBBP associated with?
Rubinstein Taybi
What is the locus of Miller Dieker?
17p13.3
What is PAFAH1B1 associated with?
Miller Dieker
What is the locus of Smith Magenis?
17p11.2
What is RAI1 associated with?
Smith Magenis/Potocki Lupski
What is the locus of Potocki-Lupski?
17p11.2
What is the locus of HNPP?
17p12
What is the locus of CMT1A?
17p12
What is PMP22 associated with?
HNPP/CMT1A
What is the location of NF1?
17q11.2
What is the locus of RCAD/MODY?
17q12
What is the location of TBX1?
22q11.21
What is the location of CRKL?
22q11.21
What is the location of MAPK1?
22q11.21-q11.22
What is the location of SMARCB1?
22q11.23
What is the locus of Phelan-McDermid?
22q13
What are ARSA and SHANK3 associated with?
Phelan-McDermid
What is the location of SRY?
Yp11.31
What is the location of SHOX?
Xp22.33
What is the locus of Bloom Syndrome?
15q26.1
What is the locus of Ataxia Telangietasia?
11q22.3
What is BLM associated with?
Bloom Syndrome
What is ATM associated with?
Ataxia Telangiectasia
What is the locus of Nijmegan BS?
8q21.3
What is the location of FMR1?
Xq27.3
What is the location of FMR2?
Xq28
What is the location of XIST?
Xq13
Name 2 variant RARA translocations
t(11;17)(q13;q21),
t(11;17)(q23;q21),
t(5;17)(q35;q21)
Name a FAB class M4 AML
inv(16)(p13.1q22) CBFB-MYH11
Name a FAB Class M2 AML
t(8;21)(q22;q22) RUNX1T1-RUNX1
Name a FAB Class M3 AML
t(15;17)(q24;q21) PML-RARA
Name a FAB Class M5 AML
t(9;11)(p22;q34) MLLT3-KMT2A
Prognosis of t(12;21)(p13;q22) in ALL
Favourable
Prognosis of Hyperdiploidy in ALL
Favourable
Prognosis of t(9;22)(q34;q11) in ALL
Poor
Prognosis of t(4;11)(q21;q23) in ALL
Poor
Prognosis of hypodiploidy in ALL
Poor
Prognosis of t(1;19)(q23;p13) in ALL
Intermediate
Prognosis of t(17;19)(q22;p13) in ALL
Poor
Prognosis of iAMP21 in ALL
Poor
Prognosis of complex karyotype in adult ALL
Poor
Prognosis of near triploidy in adult ALL
Poor
Prognosis of t(8;21)(q22;q22) in AML
Good with high dose cytarabine in the consolidation phase
Prognosis of inv(16)(p13.1q22) in AML
Good with high dose cytarabine in the consolidation phase
Prognosis of t(15;17)(q24;q21) in AML
Good
Prognosis of t(6;9)(p23;q34) in childhood AML
Poor (intermediate in adults)
Prognosis of t(9;11)(p22;q23) in AML
Intermediate - better than AML with other 11q23 translocations
Prognosis of t(4;14)(p16.3;q32) IGH-FGFR3 in MM
Poor
Prognosis of t(11;14)(q13;q32) IGH-CCND1 in MM
Good
Prognosis of t(14;16)(q32;q23) IGH-MAF in MM
Poor
Prognosis of t(6;14)(p21;q32) IGH-CCND3 in MM
Good
Prognosis of t(14;20)(q32;q11) IGH-MAFB in MM
Poor - may be very poor
Prognosis of isolated 13q14.3 mono/biallelic deletion in CLL
Favourable
Prognosis of trisomy 12 in CLL
Intermediate
Prognosis of ATM deletion (11q23) in CLL
Poor
Prognosis of TP53 deletion (17p13.1) in CLL
Poor
Prognosis of CLL with IGH rearrangement?
Generally poor
What grade is Burkitt Lymphoma?
High grade lymphoma
What grade is Follicular lymphoma?
Low grade lymphoma
What grade is Mantle Cell Lymphoma?
Low/Intermediate grade lymphoma
What grade is DLBCL?
High grade lymphoma
Prognosis of -Y in MDS
Very good (consider age related Y chrm loss)
Prognosis of del(11q) in MDS
Very good
Prognosis of del(5q) in MDS
Good
Prognosis of del(12p) in MDS
Good
Prognosis of del(20q) in MDS
Good
Prognosis of del(7q) in MDS
Intermediate
Prognosis of +8 in MDS
Intermediate
Prognosis of +19 in MDS
Intermediate
Prognosis of i(17q) in MDS
Intermediate
Prognosis of -7 in MDS
Poor
Prognosis of inv(3)/t(3q)/del(3q) in MDS
Poor
Prognosis of complex kary of 3 abnormalities in MDS
Poor
Prognosis of complex karyo >3 abnormalities in MDS
Very poor
Prognosis of normal karytyope in MDS
Good
Prognosis of 2 abn’s including del(5q) in MDS
Good
Prognosis of 2 abn’s not including del(5q) or -7/del(7q) in MDS
Intermediate
Prognosis of 2 abn’s including -7/del(7q) in MDS
Poor
3 X-linked recessive disorders
DMD, BMD, SBMA, Androgen Insensitivity Syndrome, Fabry Disease, Hunter Syndrome
3 X-linked dominant disorders
X-linked hypophosphatemia/Vit D resistant rickets, X-linked Alport Syndrome, Intercontinentia Pigmentia, Rett Syndrome, Oral-facial-digitial syndrome type 1
Expansion size for Fragile X - full
> 200 rpts
Premutation expansion for Fragile X
55-200 rpts
Normal allele size for Huntingtons
Less than 27 rpts
Intermediate expansion size for Huntingtons
27-35 rpts
Incomplete penetrance expansion for Huntingtons
36-39 rpts
Fully penetrant expansion for Huntingtons
40+rpts
Expansions for juvenile onset Huntingtons
60+rpts
