6/9/2016
Application FISH ISCN in daily work through case studies
Xiaojing Yang
1
List of common FISH Symbols and Abbreviations
-
Absent from a specific chromosome
con Connected signals
+
Present on a specific chromosome
dim Diminished signal
intensity
++ Two hybridization signals or
hybridization regions on a
specific chromosome
enh Enhanced signal intensity
ish
x
In situ hybridization
Precedes the number of observed
signals
nuc ish
.
Separates cytogenetic observations
from FISH results
sep
;
Separates probes on different
derivative chromosomes
subtel
wcp
amp Amplified signal
Interphase in situ
hybridization
Separated signals
Subtelomeric
Whole chromosome
paint
*Separated chart in ISCN 2009 book p105, combined chart in ISCN 2013 book p36
2
Case 1: FISH ISCN—Constitutional Studies
• 13 year‐old female • Clinical indication: Turner Syndrome
• Probe: Yp11.3(SRY)/Xcen(DXZ1) (Abbott)
21‐‐1G
Result from 50 metaphases:
21‐‐1G
22‐‐1G/2G
3‐‐1G/2G/2G
22‐‐1G/2G
3‐‐1G/2G/2G
ISCN:
ish Xcen(DXZ1x1),dic(X)(DXZ1++,SRY‐)[22]/Xcen(DXZ1x1)[21]
/Xcen(DXZ1x1),dic(X)(DXZ1++,SRY‐)x2[3]
3
1
6/9/2016
Case 1: Karyotypes
Karyotypes of the case, revealed three cell lines.
ISCN: 45,X[10]/46,X,psu idic(X)(p11.2)[7]/47,X,+psu idic(X)(p11.2)x2[3]
4
Case 1: ISCN Summary
ISCN:
ish Xcen(DXZ1x1),dic(X)(DXZ1++,SRY‐)[22]/Xcen(DXZ1x1)[21]
/Xcen(DXZ1x1),dic(X)(DXZ1++,SRY‐)x2[3]
Constitutional mosaicism: Key notation:
Other notation:
A slant line “/” separates cell lines, Normal clone is always listed last
Normal chromosome: Use “Probex1 or x2”
“,” separates individual probes If several abnormal clones are present, they are presented according to size: largest first.
Structurally abnormal chromosome: Use “+” (locus present); number in square brackets [ ] is absolute number of cells in each clone
“–” (locus absent)
“x#” is used to describe multiple same structural abnormal chromosome
If same size clones present, the numerical abnormal Clone is listed before structural abnormal clone
5
Case 2: FISH ISCN—Constitutional Studies
• 52 year‐old male • Probe: Xcen(DXZ1)/Ycen(DYZ3) (Abbott)
Yp11.3(SRY)/Yq12(DYZ1)/Xcen(DXZ1) (Abbott)
DXZ1
DYZ3
Results from 50 metaphases:
DXZ1/DYZ3: 50—1G/2R
Result from 50 metaphases:
SRY/DYZ1/DXZ1:2R0A/1G
●SRY
●DYZ3
●DYZ3
●SRY
idic(Y)
ISCN:
ish Xcen(DXZ1x1),idic(Y)(SRY++,DYZ3++,DYZ1‐)
6
2
6/9/2016
Case 2: karyotype
Concurrent chromosome result: 46,X,psu idic(Y)(q11.2)
7
Case 2: ISCN Summary
ISCN:
ish Xcen(DXZ1x1),idic(Y)(SRY++,DYZ3++,DYZ1‐)
Constitutional: No square bracket following ISCN unless multiple cell lines present
For structural abnormal chromosome: Probes are listed from p to q arm of abnormal chromosomes
Normal chromosome: Use “Probex1 or x2”
Structurally abnormal chromosome: Use “+” (locus present) “–” (locus absent)
8
Case 3: FISH ISCN—Constitutional Studies
• 12 year‐old male • Clinical indication: rule out chromosome abnormality
• Cytogenetic analysis result: a male karyotype with one abnormal chromosome 8 in all metaphase cells examined.
supplemental FISH assays were performed to clarify the breakpoints
• chr 8 subtelomeres
• MYC 8q24 • ETO 8q22 9
3
6/9/2016
Case 3: FISH ISCN—Constitutional Studies
‐‐8q22
‐‐21q22
8q24‐‐
8pter●
ish der(8)(8pter‐,8qter++,MYC++,ETO+)
●8qter
●MYC
ETO●
MYC●
8qter●
●ETO
●MYC
●8qter
Breakpoint is between MYC 8q24 and ETO 8q22
der(8)
N 8
10
Case 3: FISH ISCN—Constitutional Studies
The abnormal chr 8 had two 8qter on each arm, but lost the 8pter, indicating the presence of a possible recombinant 8 derived from one of the parents who carries a pericentric inversion. The symbol “rec” can not be used unless a parental inversion has been confirmed. Instead rec(8) should be written as der(8). (p47 ISCN 2013)
This genetic imbalance results in partial trisomy 8q and partial monosomy 8p and is expected to cause phenotypic developmental abnormalities known as recombinant 8 syndrome.
Final ISCN:
46,XY,der(8)(qter‐>q23::p23.1‐>qter)
.ish der(8)(8pter‐,8qter++,MYC++,ETO+)
Chr.8
Breakpoints at 8q23 and 8p23.1
11
Case 3: ISCN Summary
Final ISCN:
46,XY,der(8)(qter‐>q23::p23.1‐>qter).ish der(8)(8pter‐,8qter++,MYC++,ETO+)
If chromosome analysis and FISH are both reported, they are separated by a period “.” (p105 ISCN 2013)
If FISH further clarifies the karyotype and, in retrospect, the abnormality can be visualized with banding , the karyotype may be re‐written to reflect this new FISH information. (p105 ISCN 2013)
If the abnormality is cryptic and cannot be visualized by banding, the abnormality should not be listed in the banded karyotype. (p105 ISCN 2013)
12
4
6/9/2016
Duplication and Partial deletion (use enh and dim symbols) HIRA enh
ELN
D7S486
ish dup(22)(q11.2q11.2)(HIRA enh) .nuc ish(HIRAx3)
ish del(7)(q11.23q11.23)(ELN dim)
Be aware the space between probe name and enh or dim
13
Practicing FISH ISCN—Constitutional Studies
Q1: •
•
High resolution (band >550) chromosome study: 46,XX
FISH for DiGeorge/ VCF critical region HIRA(22q11.2)/ARSA(22q13): 10 0R1G/1R1G
ISCN:
A.
46,XX.ish del(22)(q11.2q11.2)(HIRA‐)
B.
46,XX.ish del(22)(q11.2)(HIRA‐)[10]
14
Practicing FISH ISCN—Constitutional Studies
Q1: •
•
Answer:
High resolution (band >550) chromosome study: 46,XX
FISH for DiGeorge/ VCF critical region HIRA(22q11.2)/ARSA(22q13): 10 0R1G/1R1G
A.
46,XX.ish del(22)(q11.2q11.2)(HIRA‐)
B.
46,XX.ish del(22)(q11.2)(HIRA‐)[10]
del(22) is cryptic and cannot be visualized by banding, the abnormality should not be listed in the banded karyotype. 15
5
6/9/2016
Practicing FISH ISCN—Constitutional Studies
Q2: FISH DXZ1(SG)/SRY(SO)/DYZ1(SA): o
o
Metaphase
20—1G/0R2A
30—1G
o
o
Interphase
46– 1G2A
54– 1G
ISCN:
A.
ish Xcen(DXZ1x1)[30]/ Xcen(DXZ1x1),i(Y)(DYZ1++,SRY‐)[20].nuc ish(DXZ1x1)[54]/(DXZ1x1,SRYx0,DYZ1x2)[46]
B.
ish Xcen(DXZ1x1)[30]/ Xcen(DXZ1x1),i(Y)(DYZ1x2,SRYx0)[20].nuc ish(DXZ1x1)[54/100]/(DXZ1x1,SRYx0,DYZ1x2)
[46/100]
16
Practicing FISH ISCN—Constitutional Studies
Q2: FISH DXZ1(SG)/SRY(SO)/DYZ1(SA): o
o
Metaphase
20—1G/0R2A
30—1G
o
o
Interphase
46– 1G2A
54– 1G
Answer:
A.
ish Xcen(DXZ1x1)[30]/ Xcen(DXZ1x1),i(Y)(DYZ1++,SRY‐)[20].nuc ish(DXZ1x1)[54]/(DXZ1x1,SRYx0,DYZ1x2)[46]
B.
ish Xcen(DXZ1x1)[30]/ Xcen(DXZ1x1),i(Y)(DYZ1x2,SRYx0)[20].nuc ish(DXZ1x1)[54/100]/(DXZ1x1,SRYx0,DYZ1x2)
[46/100]
17
Practicing FISH ISCN—Constitutional Studies
Q3: karyotype
20‐‐47,XX,+mar (a bisatellited marker)
FISH Metaphase
SNRPN(SO)/PML(SG)/D15Z1(SA)
20‐‐1R1G1A/1R1G1A/2R0G2A
ISCN:
A.
47,XX,+idic(15)(q13.1)[20].ish idic(15)(D15Z1,SNRPN)x2[20]
B.
47,XX,+idic(15)(q13.1).ish idic(15)(D15Z1++,SNRPN++)
18
6
6/9/2016
Practicing FISH ISCN—Constitutional Studies
Q3: karyotype
20‐‐47,XX,+mar (a bisatellited marker)
FISH Metaphase
SNRPN(SO)/PML(SG)/D15Z1(SA)
20‐‐1R1G1A/1R1G1A/2R0G2A
Answer:
A.
47,XX,+idic(15)(q13.1)[20].ish idic(15)(D15Z1,SNRPN)x2[20]
B.
47,XX,+idic(15)(q13.1).ish idic(15)(D15Z1++,SNRPN++)
19
Practicing FISH ISCN—Constitutional Studies
Chr. 15
Oligonucleotide‐SNP array result: This microarray assay exhibited a two‐copy‐number gain of ~5.8 Mb of the proximal portion of the long arm of chr. 15 within bands 15q11.2 and 15q13.1.
Final ISCN:
47,XX,+idic(15)(q13.1).ish idic(15)(D15Z1++,SNRPN++).arr[hg19] 15q11.2q13.1(22,770,421‐28,545,601)x4
20
Case 4: FISH ISCN—Post Opposite Sex BMT
• 8 year‐old male
• Clinical indication: History of post opposite sex bone marrow transplant
• Probe: DXZ1(Xcen)/DYZ1(Yq12) (Abbott)
DXZ1
DYZ1 Results:
32—1R1G
468—2R
recipient (male pattern)
donor (female pattern)
ISCN:
nuc ish(DXZ1,DYZ1)x1[32]//(DXZ1x2)[468]
21
7
6/9/2016
Case 4: ISCN Summary—Post Opposite Sex BMT
• The recipient cell clones are listed first, followed by the donor cell lines and separated by a double slant line (//).
• List # of cells only in square brackets Female patient:
nuc ish(DXZ1x2)[200]//(DXZ1,DYZ1)x1[300]
nuc ish(DXZ1x2)[200/500]//(DXZ1,DYZ1)x1[300/500]
22
Case 5: FISH ISCN—Oncology Studies
• 63 year‐old male • Clinical indication: B‐CLL
• Probe: B‐CLL panel with three probe sets from Metasystems MYB(6q23)/SEC63 (6q21); TP53(17p13.1)/ATM (11q22.3);
DLEU(13q14.3)/LAMP1(13q34)/D12Z3(12cen)
100 2R2G
100 2R2G
71 1R1r2A2G
29 2R2A2G
ISCN:
nuc ish(SEC63,MYB)x2[100],(ATM,TP53)x2[100],(D12Z3x2,DLEUx1,DLEU dimx1,LAMP1x2)[71/100]
23
Case 5: ISCN Summary
ISCN:
nuc ish(SEC63,MYB)x2[100],(ATM,TP53)x2[100],(D12Z3x2,DLEUx1,DLEU dimx1,LAMP1x2)[71/100]
Probe sets co‐hybridized are included in the same parentheses.
Probes and probe sets are listed in a numerical order, from p to q arm
# cells in square brackets are used in cancer study.
[# abn cells/total # cells] scored
When signal copies for multi‐
probes are the same, list all probes in a parentheses and followed by (x) sign and copy number.
Use “probe x signal copies” for interphase ISCN. Symbols “+” or “–” can only be used for metaphase ISCN but NOT for interphase ISCN.
If case is normal: nuc ish(SEC63,MYB,ATM,D12Z3,DLEU,LAMP1,TP53)x2[100]
24
8
6/9/2016
Modification for complex cases (not in ISCN book):
Probe sets co‐hybridized are included in the same parentheses except when abnormalities are very complex
B‐CLL panel with three probe sets (Metasystems):
MYB(6q23)/SEC63 (6q21) TP53(17p13)/ATM (11q22)
100 2R2G
45 1R1G
40 1R2A2G
10 1R2G
10 1R2A3G
DLEU(13q14)/LAMP1(13q34)/D12Z3 5 2R1G
5 2R2A3G
40 2R2G
45 2R2A2G
55 1R/100 cells
50 1R2A/100cells
50 1G/100 cells
15 3G/100cells
ISCN:
nuc ish(SEC63,MYB)x2[100],(ATMx1)[50/100],(D12Z3x3)[15/100],(DLEUx1,LAMP1x2)[50/100],(TP53x1)[55/100]
25
Case 6: FISH ISCN DCDF Probe —Oncology Studies
•
•
•
•
92 year‐old female
Clinical indication: CML
Probe: ABL1(9q34)/BCR (22q11.2) (DCDF Abbott)
No hx or concurrent chromosome study
2R2G1F
2R2G2F
Results:
• 68—2R2G1F
• 25—2R2G2F
•
(stemline with variant pattern, likely 3‐way translocation)
(sideline with extra fusion suggests an extra ph’, indicating disease progression or blast crisis)
7 —2R2G
ISCN:
nuc ish(ABL1,BCR)x3(ABL1 con BCRx1)[68/100]/(ABL1,BCR)x4(ABL1 con BCRx2)[25/100]
26
Case 6: ISCN summary
• ≥2 cell lines present:
 list stemline first  followed by each additional sidelines in an order of increasing complexity, irrespective of the size of the clones.  normal cell line is not to be mentioned.  If there are 2 unrelated abnormal clones, they are presented according to their size, largest first.
• ISCN of BCR/ABL1 as an example for DCDF probe
27
9
6/9/2016
ABL1(9q34)
BCR(22q11.2)
Example:
nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[60/200]/(ABL1,BCR)x4(ABL1 con BCRx3)[100/200]
(out of 200 total, 60 cells stemline(1R1G2F), 100 cells sideline(1R1F3F) & 40 cells normal)
28
Case 7: FISH ISCN —Oncology Studies
CCND1
IGH
•
•
•
52 year‐old male
Specimen: Paraffin block (FFPE)
Testing probe: CCND1(11q13)/IGH(14q32) (DCDF Abbott)
Result: Positive for complex CCND1/IGH rearrangement
89– 1‐3R1‐2G2‐5F
11– 2R2G
How to write ISCN?
29
ISCN:
nuc ish(CCND1x ? ,IGHx ? )(CCND1 con IGHx ? )[89/100]
• 1‐3R
• 2‐5F
CCND1
3~8
1R
1F
1G
CCND1(11q13)/IGH(14q32) 89– 1‐3R1‐2G2‐5F
11– 2R2G
IGH
3~7
• 1‐2G
• 2‐5F
CCND1 con IGH
• 2‐5F
2~5
ISCN:
nuc ish(CCND1x3~8,IGHx3~7)(CCND1 con IGHx2~5)[89/100]
30
10
6/9/2016
Abnormal UroVysion assay for Bladder cancer
Observations
3~5R3G4gold3~5A
30 cells
FISH ISCN 2009
nuc ish(D3Z1x3~5,D7Z1x3,CDKN2Ax4,D17Z1x3~5)[30] 31
Case 9: FISH ISCN BA Probe—Oncology Studies
• Clinical indication: Multiple Myeloma
• IGH BA (Abbott) was performed on sorted plasma cells
2F
1R1G1F
(3’IGH 5’IGH)
2R2G
Results:
32—1R1G1F
40—2R2G
28– 2F
ISCN:
nuc ish(IGHx2)(3’IGH sep 5’IGHx1)[32/100]/(IGHx2)(3’IGH sep 5’IGHx2)[40/100]
32
Summary of IGH BA ISCN
2F: nuc ish(IGHx2)[ ]
1R1G1F: nuc ish(IGHx2)(3’IGH sep 5’IGHx1)[ ]
1R1G: nuc ish(IGHx1)(3’IGH sep 5’IGHx1)[ ]
3’IGH
1G1F: nuc ish(3’IGHx1,5’IGHx2)(3’IGH con 5’IGHx1)[ ]
5’IGH
1R1F: nuc ish(3’IGHx2,5’IGHx1)(3’IGH con 5’IGHx1)[ ]
2R2G: nuc ish(IGHx2)(3’IGH sep 5’IGHx2)[ ]
2R1G: nuc ish(3’IGHx2,5’IGHx1)(3’IGH sep 5’IGH x1)[ ]
1F1FdimG: nuc ish(IGHx2)(5’IGH dimx1)[ ]
The orientation of 3’ & 5’ is from pter to qter! (emphasis in 2013 ISCN book)
33
11
6/9/2016
Summary of IGH BA ISCN
The orientation of 3’ & 5’ is from pter to qter! (emphasis in 2013 ISCN book)
Normal 2F: nuc ish(IGHx2)[ ] short form, preferred
or nuc ish(3’IGHx2,5’IGHx2)(3’IGH con IGHx2)[ ] long form
Classical abn pattern 1R1G1F: nuc ish(IGHx2)(3’IGH sep 5’IGHx1)[ ]
BA probe: con = fusion (normal pattern)
sep = R & G break apart(abn pattern)
34
nuc ish(IGHx_ or 3’IGHx_,5’IGHx_) (3’IGH con or sep 5’IGHx_)
1R1G: nuc ish(IGHx1)(3’IGH sep 5’IGHx1)[ ]
R and G w/same copy number
Short Form (IGHx_)
IGHx_ or
3’IGHx_,5’IGHx_
1G1F: nuc ish(3’IGHx1,5’IGHx2)(3’IGH con 5’IGHx1)[ ]
Short or long form?
R and G w/different copy number
2R2G: nuc ish(IGHx2)(3’IGH sep 5’IGHx2)[ ]
Long Form (3’IGHx_,5
’IGHx_)
1R1F: nuc ish(3’IGHx2,5’IGHx1)(3’IGH con 5’IGHx1)[ ]
2R1G: nuc ish(3’IGHx2,5’IGHx1)(3’IGH sep 5’IGH x1)[ ]
1R1G1F: nuc ish(IGHx2)(3’IGH sep 5’IGHx1)[ ]
When there is at least one red and green separation, use sep
sep
1R1G: nuc ish(IGHx1)(3’IGH sep 5’IGHx1)[ ]
2R2G: nuc ish(IGHx2)(3’IGH sep 5’IGHx2)[ ]
2R1G: nuc ish(3’IGHx2,5’IGHx1)(3’IGH sep 5’IGH x1)[ ]
con or sep?
either Red and fusion or Green and fusion, use con
con
1G1F: nuc ish(3’IGHx1,5’IGHx2)(3’IGH con 5’IGHx1)[ ]
1R1F: nuc ish(3’IGHx2,5’IGHx1)(3’IGH con 5’IGHx1)[ ]
35
How to write 5’IGH partial deletion using dim:
1R1G1F(Gd)
nuc ish(3’IGHx2,5’IGHx1,5’IGH dimx1)(3’IGH sep 5’IGHx1)[ ]
1F1F(Gd)
nuc ish(IGHx2)(5’IGH dimx1)[ ]
36
12
6/9/2016
Case 10: FISH ISCN—Oncology Studies
• 62 year‐old female
• Clinical indication: Lung cancer
• ALK BA (Abbott) was performed on FFPE
Results:
40—1‐9R0G1‐10F
10– 2F
How to write ISCN?
37
Total.3’ALK
2~19
Result of ALK (3’ALK/ 5’ALK)
40—1‐9R0G1‐10F
10– 2F
• 1‐9R
• 1‐10F
Total.5’ALK
1~10
Fusion
1~10
1R
1F
1G
• 0G
• 1‐10F
• 1‐10F
ISCN:
nuc ish(3’ALKx2~19,5’ALKx1~10)(3’ALK con 5’ALKx1~10)[40/50]
38
Case 11: FISH ISCN—“amp” in Oncology Studies
• 60 year‐old female
• BCL2(18q21) /IGH(14q32) DCDF (Abbott) was performed on FFPE
Result:
91 1R1G2F BCL2 amp+ under fusion
9 2R2G
(Positive for IGH/BCL2 and amplification of BCL2 under fusion signal, the size of BCL2 amp is small and tight, and may be overlooked under microscope.) number of BCL2 copies cannot be enumerated, use “amp”
ISCN:
nuc ish(IGHx3,BCL2x2,BCL2 amp)(IGH con BCL2x1)(IGH con BCL2 ampx1)[91/100]
39
13
6/9/2016
Oncogene amplification in hematological disorders
• Amplification is presented as homogenously staining regions (hsr), double minutes (dmin),
a pattern of combined hsr and dmin.
• Frequent observed amplified oncogenes in hematological disorders: MYC, MLL, RUNX1, ABL1, BCL2, BCL6 etc.
40
MYC gene amplification
MYC(8q24) BA probe:
20 metaphases had double minutes hybridized to MYC. Copy number ranged from 6‐50 per cell.
Metaphase ISCN:
ish dmin(MYCx6~50)[20]
41
MLL gene amplification
MLL
MLL
MLL(11q23) BA Probe: MLL was amplified on double‐minute chromosomes (dmins)
ish dmin(MLLx6~40)[ ]
42
14
6/9/2016
MLL gene amplification
ISCN:
ish hsr(11)(q23)(MLL amp)[ ]
43
MLL gene amplification
MLL
Metaphase:
5—6‐15 F/1F
ish der(11)r(11)(p15q25)hsr(11)(q23)(MLLx6~15)[5]
44
More metaphase ISCN:
inv(16)(p13.1q22)
5’
5’
3’
N 16
3’
inv(16)(p13.1q22)
Abbreviation: mv st
ish inv(16)(5’CBFB mv,3’CBFB st)
inv(16)(p13.1q22)
ish inv(16)(p13.1)(5’CBFB+)(q22)(3’CBFB+)[ ]
Inversion breakpoints are in separate parentheses to make the FISH information apparent.
45
15
6/9/2016
More metaphase ISCN:
BCR/ABL DCDF probe
BCR
ABL1
ABL1
BCR
der(9)(ABL1+,BCR+)
der(22)(BCR+,ABL1+)
ISCN:
47,XY,t(9;22)(q34;q11.2),+der(22)t(9;22)[ ]
.ish t(9;22)(ABL1+,BCR+;BCR+,ABL1+),
der(22)t(9;22)(BCR+,ABL1+)[ ]
No need to add + sign for FISH ISCN
46
Practicing FISH ISCN—Oncology Studies
Q4: karyotype
20 metaphases
46,XX,add(21)(q22)
FISH probe:
RUNX1(SO)21q22
ETV6(SG)12p13 (DC ES)
5 metaphase
1R/1R amp/1G/1G
FISH metaphase ISCN:
A.
ish hsr(21)(q22)(RUNX1 amp)[5]
B.
ish iAMP(21)(RUNX1 amp)[5]
47
Practicing FISH ISCN—Oncology Studies
Q4: karyotype
20 metaphases
46,XX,add(21)(q22)
FISH probe:
RUNX1(SO)21q22
ETV6(SG)12p13 (DC ES)
5 metaphase
1R/1R amp/1G/1G
Answer:
A.
ish hsr(21)(q22)(RUNX1 amp)[5]
B.
ish iAMP(21)(RUNX1 amp)[5]
 iAMP21stands for intrachromosomal amplification of chr. 21 and iAMP should not be used for ISCN.
 iAMP defines a distinct cytogenetic subgroup of childhood BCP ALL with poor prognosis (2%).
 Metaphase FISH is useful for final confirmation since RUNX1 extra copies could also be associated with hyperdiploid BCP‐ALL.
48
16
6/9/2016
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q5: D12Z3(12cen),
ISCN:
DLEU (13q14.3), LAMP1(13q34), 12 2G2R2A
65 2G1R2A
123 2G0R2A
nuc ish(ATM,TP53)x2[200], (D12Z3x2,DLEUx1,LAMP1x2)[65/200]/
(D12Z3x2,DLEUx0,LAMP1x2)[123/200]
A. True
B. False
ATM(11q22.3), TP53(17q13.1)
200 2G2R
49
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q5: Answer:
D12Z3(12cen),
DLEU (13q14.3), LAMP1(13q34), 12 2G2R2A
65 2G1R2A
123 2G0R2A
nuc ish(ATM,TP53)x2[200], (D12Z3x2,DLEUx1,LAMP1x2)[65/200]/
(D12Z3x2,DLEUx0,LAMP1x2)[123/200]
A. True
B. False
ATM(11q22.3), TP53(17q13.1)
Heterozygous deletion of DLEU in 65 among 200 cells scored and 123 cells show a homozygous deletion of DLEU.
200 2G2R
50
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q6: ISCN:
D5S23(5p15.2)
EGR1(5q31) 136 2G2R
64 2G1R
D7Z1(7cen)
D7S486(7q31)
150 2G2R
50 1G1R
A.
nuc ish(D5S23x2,EGR1x1)[64/200],
(D7Z1,D7S486)x1[50/200],
(D8Z2,D20S108)x2[200]
B.
nuc ish(EGR1x1, D5S23x2)[64/200],
(D7S486, D7Z1)x1[50/200],
(D8Z2,D20S108)x2[200]
D8Z2(8cen) D20S105(20q12), 200 2G2R
51
17
6/9/2016
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q6: Answer:
EGR1 (5q31) D5S23(5p15.2)
136 2G2R
64 2G1R
D7S486(7q31) D7Z1(7cen)
150 2G2R
50 1G1R
D20S105(20q12), D8Z2(8cen)
200 2G2R
A.
nuc ish(D5S23x2,EGR1x1)[64/200],
(D7Z1,D7S486)x1[50/200],
(D8Z2,D20S108)x2[200]
B.
nuc ish(EGR1x1, D5S23x2)[64/200],
(D7S486, D7Z1)x1[50/200],
(D8Z2,D20S108)x2[200]
64cells show 5q deletion and 50 cells show monosomy 5
(list probes from p‐arm to q‐
arm)
52
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q7: MYC(8q24) BA
ISCN:
5’MYC proximal
3’MYC distal
30 1R2F
70 2F
nuc ish(5’MYCx3,3’MYCx2)(5’MYC con 3’MYCx2)[30/100],(MYC,IGH)x3(MYC con IGHx2)[35/100]
A. True
B. False
MYC(8q24)/IGH(14q32) DCDF
35 1R1G2F
65 2R 2G
53
Practicing FISH ISCN—Oncology Studies
FISH ISCN 2009
Q7: Answer:
MYC(8q24) BA
5’MYC proximal
3’MYC distal
30 1R2F
70 2F
nuc ish(5’MYCx3,3’MYCx2)(5’MYC con 3’MYCx2)[30/100],(MYC,IGH)x3(MYC con IGHx2)[35/100]
A. True
B. False
MYC(8q24)/IGH(14q32) DCDF
35 1R1G2F
65 2R 2G
54
18
6/9/2016
SHIRONG WANG
FISH TEAM
AT QUEST DIAGNOSTICS-SJC
55
19