MetaSystems

MetaSystems XL
Locus-Specific Probes for
Leukemias and Lymphomas



MetaSystems has lately introduced its new XL XL XL XL probe range, a panel of
locus-specific FISH probes for hematology. Hereby we highlight the use of
such hematological probes related to the different types of Leukemias and
Lymphomas.

This listing is in line with the recommendations found in the 'Classification
of Tumours of Haematopoetic and Lymphoid Tissues', 4th Edition IARC,
2008.

XL XL XL XL probes come in packages containing 10 tests each (10 10 tests each (10 10 tests each (10 10 tests each (100 l) 0 l) 0 l) 0 l), and are
labeled with green and red fluorochromes, which can be visualized using
FITC FITC FITC FITC and Texas Red Texas Red Texas Red Texas Red fluorescent filters. The XL EVI1 XL EVI1 XL EVI1 XL EVI1 probe produces an
additional aqua signal, which can be detected using a DEAC DEAC DEAC DEAC fluorescent
filter.

Like all other MetaSystems probe kits, XL XL XL XL probes are classified as IVD IVD IVD IVD
products products products products and marked with the CE label CE label CE label CE label. The range of XL XL XL XL probes is available
everywhere, except for the U.S.A., Canada, Turkey, and Spain.

XL XL XL XL probes are shipped at room temperature shipped at room temperature shipped at room temperature shipped at room temperature and should be stored at stored at stored at stored at - -- -20C 20C 20C 20C
upon arrival.








Product Probe Description Order No.


CMD Chronic Myeloproliferative Disorders (e.g. CML, CEL (HES))

XL BCR/ABL
Dual Fusion
The XL BCR/ABL probe detects fusions of the ABL proto-oncogene located at 9q34.1 within
the breakpoint cluster region (BCR) at 22q11. XL BCR/ABL was designed as a 'dual color
dual fusion' probe mix with probes labeled in red spanning the ABL locus on chromosome 9
and green labeled probes flanking the breakpoint at BCR on chromosome 22, respectively.
D-5007-100-RG
XL P53
Deletion Probe
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL PDGFRB
Break Apart
The XL PDGFRB probe is designed as a 'break apart' probe with two probes juxtaposed
and differently labeled. The probe located proximal to the PDGFRB locus at 5q33 is labeled
in red. A green labeled probe hybridizes distal to the breakpoint.
D-5031-100-RG
XL FIP1L1/CHIC2/PDGFRA
Deletion / Fusion
The FIP1L1/CHIC2/PDFRA probe mix contains a red probe spanning the CHIC2 gene and is
flanked by two green probes. One green probe hybridizes proximal to FIP1L1 and another
green probe hybridizes distal to PDGFRA.
D-5032-100-RG

CLL Chronic Lymphocytic Leukemia

XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL ATM
Deletion
The XL ATM locus-specific probe detects deletions in 11q22.3. This probe is labeled in red
and spans from marker D11S2179 within the ATM gene to the NPAT region which is more
distal. A green labeled probe, specific for the centromere of chromosome 11 functions as a
reference probe.
D-5011-100-RG
XL 13q14.3
Deletion
The XL 13q14.3 probe detects deletions in the respective region of chromosome 13. The
relevant locus-specific probe is labeled in red and includes the markers D13S319, D13S272,
D13S4381 and D13S25. A green labeled probe, specific for the q-terminal region of
chromosome 13 functions as a reference probe.
D-5006-100-RG
XL MYB
Deletion
The XL MYB locus specific probe detects deletions in the long arm of chromosome 6. This
probe is labeled in red and hybridizes to the MYB locus in 6q23.3. A green labeled probe
which hybridizes to the centromere of chromosome 6 functions as a reference probe.
D-5016-100-RG
XL IGH
Break Apart
The XL IGH probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The proximal probe is designed to hybridize within the Constant Region of
the IGH locus on chromosome 14 (14q32) and is labeled in red. The green labeled probe is
designed to hybridize to the Variable Region of the IGH locus.
D-5014-100-RG

ALL Acute Lymphocytic Leukemia

XL BCR/ABL
Dual Fusion
The XL BCR/ABL probe detects fusions of the ABL proto-oncogene located at 9q34.1 within
the breakpoint cluster region (BCR) at 22q11. XL BCR/ABL was designed as a dual color
dual fusion probe mix with probes labeled in red spanning the ABL locus on chromosome 9
and green labeled probes flanking the breakpoint at BCR on chromosome 22, respectively.
D-5007-100-RG
XL TEL/AML1
Dual Fusion
The XL TEL/AML1 is designed as a 'dual color dual fusion' probe. The red labeled probes
flank the breakpoint at 12p13 and the green labeled probes flank the breakpoint at 21q22.
D-5012-100-RG
XL AML1
Break Apart
The XL AML1 is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The proximal probe is labeled in red and a green labeled probe is
designed to hybridize distal to the breakpoint in 21q22 (AML1).
D-5027-100-RG
XL E2A
Break Apart
The XL E2A probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The proximal probe is labeled in red and a green labeled probe is
designed to hybridize distal to the breakpoint in 19p13.
D-5019-100-RG
XL MLL
Break Apart
The XL MLL probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The probe which hybridizes proximal to MLL is labeled in green and
covers the CD3G gene. The red labeled probe stretches distal from exon 5 and includes
marker D11S3207.
D-5013-100-RG
XL P16
Deletion
The XL P16 locus-specific probe detects deletions in band 9p21. This probe is labeled in red
and covers p16 (CDKN2A) as well as p15 (CDKN2B). A green labeled probe which
hybridizes to the heterochromatic region of chromosome 9, at 9q12, functions as a
reference probe.
D-5009-100-RG








Product Probe Description Order No.


MDS Myelodysplastic Syndromes

XL Del(5q)
Deletion
The XL del(5q) detects deletions in the long arm of chromosome 5. A red labeled probe is
designed to hybridize to 5q31 and includes the EGR1 locus. A green labeled probe is designed
to hybridize to 5p15 and functions as a control probe.
D-5024-100-RG
XL -7/del(7q)
Deletion
The XL -7/del(7q) probe combines two probes which both hybridize to the long arm of
chromosome 7. The red labeled probe is designed to hybridize to 7q22.1 and includes the
distal part of the RELN gene. The green labeled probe is designed to hybridize to 7q31 and
includes the TES locus.
D-5025-100-RG
XL Del (20q)
Deletion
The XL del(20q) detects deletions which occur in the long arm of chromosome 20. The probe
mixture includes two probes: a red labeled one which hybridizes to 20q12 and includes the
proximal part of PTPRT; and a green labeled probe which hybridizes to 20q13 and includes
the MYBL2 locus.
D-5020-100-RG
XL EVI1
Break Apart Triple Color
The XL EVI1 probe is designed as a three color 'break apart' probe and allows for
differentiation between translocations and inversions involving EVI1: a blue labeled probe
hybridizes proximal to EVI1 in 3q26, a green probe covers the entire EVI1 gene with its flanking
regions, and a red probe binds distal to the MDS1 and MYNN genes.
D-5036-100-TC

AML Acute Myeloid Leukemia

XL AML1/ETO
Dual Fusion
The XL AML1/ETO is designed as a 'dual color dual fusion' probe. The red labeled probes
flank the breakpoint at 21q22.1 (AML1) and the green labeled probes flank the breakpoint at
8q22 (ETO).
D-5026-100-RG
XL CBFB/ MYH11
Dual Fusion ,
The XL CBFB/MYH11 probe is designed as a 'dual color dual fusion' probe. A red labeled
probe spans the breakpoint at 16q22 and includes the CBFB (CBF) locus. A green labeled
probe spans the breakpoint at 16p13 and includes the MYH11 locus.
D-5022-100-RG
XL PML/RARA
Dual Fusion
The XL PML/RARA probe is designed as a 'dual color dual fusion' probe. A red labeled probe
spans the breakpoint at 15q24 (PML) and a green labeled probe spans the breakpoint at
17q21 (RARA or RAR).
D-5023-100-RG
XL MLL
Break Apart
The XL MLL probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The probe which hybridizes proximal to MLL is labeled in green and covers
the CD3G gene. The red labeled probe stretches distal from exon 5 and includes marker
D11S3207.
D-5013-100-RG
Related Probes: All aberrations occurring in MDS may apply to AML, particularly in therapy related AML (t-AML). D-5024-100-RG
D-5025-100-RG
D-5020-100-RG
D-5036-100-TC

MM Multiple Myeloma (incl. MGUS and Amyloidosis)

XL IGH
Break Apart
The XL IGH probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The proximal probe is designed to hybridize within the Constant Region of
the IGH locus on chromosome 14 (14q32) and is labeled in red. The green labeled probe is
designed to hybridize to the Variable Region of the IGH locus.
D-5014-100-RG
XL IGH/CCND1
Dual Fusion
The XL IGH/CCND1 is designed as a 'dual color dual fusion' probe. Red labeled probes
flank the breakpoint at 11q13 (CCND1/BCL1) and green labeled probes flank the breakpoint
at 14q32 (IGH).
D-5021-100-RG
XL IGH/FGFR3
Dual Fusion
The XL IGH/FGFR3 is designed as a 'dual color dual fusion' probe. Green labeled probes
flank the breakpoint at 14q32 (IGH) and a red labeled probe flank the breakpoint in 4p16.3
(FGFR3).
D-5030-100-RG
XL IGH/MAF
Dual Fusion
The XL IGH/MAF is designed as 'dual color dual fusion' probe. A set of red labeled probes
flank the breakpoint at 16q23 (MAF), while a pair of green labeled probes flank the
breakpoint at 14q32 (IGH).
D-5029-100-RG
XL 13q14.3
Deletion
The XL 13q14.3 probe detects deletions in the respective region of chromosome 13. The
relevant locus-specific probe is labeled in red and includes the markers D13S319, D13S272,
D13S4381 and D13S25. A green labeled probe, specific for the q-terminal region of
chromosome 13 functions as a reference probe.
D-5006-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL MYB
Deletion
The XL MYB locus-specific probe detects deletions in the long arm of chromosome 6. This
probe is labeled in red and hybridizes to the MYB locus in 6q23.3. A green labeled probe
which hybridizes to the centromere of chromosome 6 functions as a reference probe.
D-5016-100-RG
XL ATM
Deletion /Amplification
The XL ATM locus-specific probe detects deletions and amplifications in 11q22.3. This
probe is labeled in red and spans from marker D11S2179 within the ATM gene to the NPAT
region which is more distal. A green labeled probe, specific for the centromere of
chromosome 11 functions as a reference probe.
D-5011-100-RG



Product Probe Description Order No.


BL - Burkitt Lymphoma

XL MYC
Break Apart
The XL MYC probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The probe which hybridizes proximal to MYC is labeled in red and
includes the marker D8S1153. The distal one is labeled in green and includes the marker
D8S1644. The relatively wide spacing of these two probes allows for detection of the t(2;8)
translocation as well as t(8;14) and t(8;22).
D-5010-100-RG
XL IGL
Break Apart
The IGL probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. A red labeled probe hybridizes proximal to the variable region of IGL in
22q11, while a green labeled probe hybridizes distal to the breakpoint and includes BCR.
D-5033-100-RG
XL IGK
Break Apart
The XL IGK probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The red labeled probe locates to the IGK distal Variable Region at 2p11.2,
while a green labeled probe hybridizes distal to the breakpoint in the proximal IGK Variable,
C, and J regions.
D-5034-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG

DLBCL Diffuse large B-Cell Lymphoma

XL MYC
Break Apart
The XL MYC probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The probe which hybridizes proximal to MYC is labeled in red and
includes the marker D8S1153. The distal one is labeled in green and includes the marker
D8S1644. The relatively wide spacing of these two probes allows for detection of the t(2;8)
translocation as well as t(8;14) and t(8;22).
D-5010-100-RG
XL IGL
Break Apart
The IGL probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. A red labeled probe hybridizes proximal to the variable region of IGL in
22q11, while a green labeled probe hybridizes distal to the breakpoint and includes BCR.
D-5033-100-RG
XL IGK
Break Apart
The XL IGK probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The red labeled probe locates to the IGK distal Variable Region at 2p11.2,
while a green labeled probe hybridizes distal to the breakpoint in the proximal IGK Variable,
C, and J regions.
D-5034-100-RG
XL BCL6
Break Apart
The XL BCL6 probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. Its green labeled probe is located several hundred kb distal to the BCL6
gene in 3q27, while a red labeled probe hybridizes proximal to BCL6. The relative wide
separation of the probe binding sites allows for the detection of translocations in the MBR
(major breakpoint cluster region) as well as in the ABR (alternative breakpoint cluster region).
D-5035-100-RG
XL IGH/BCL2
Dual Fusion
The XL IGH/BCL2 is designed as a 'dual color dual fusion' probe. A red labeled probe spans
the breakpoint at 18q21 and green labeled probes flank the breakpoint at 14q32.
D-5018-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL P16
Deletion
The XL P16 locus-specific probe detects deletions in band 9p21. This probe is labeled in red
and covers p16 (CDKN2A) as well as p15 (CDKN2B). A green labeled probe which
hybridizes to the heterochromatic region of chromosome 9, at 9q12, functions as a
reference probe.
D-5009-100-RG

FL Follicular Lymphoma

XL IGH/BCL2
Dual Fusion
The XL IGH/BCL2 is designed as a 'dual color dual fusion' probe. A red labeled probe spans
the breakpoint at 18q21 and green labeled probes flank the breakpoint at 14q32.
D-5018-100-RG
XL BCL6
Break Apart
The XL BCL6 probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. Its green labeled probe is located several hundred kb distal to the BCL6
gene in 3q27, while a red labeled probe hybridizes proximal to BCL6. The relative wide
separation of the probe binding sites allows for the detection of translocations in the MBR
(major breakpoint cluster region) as well as in the ABR (alternative breakpoint cluster region).
D-5035-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL P16
Deletion
The XL P16 locus-specific probe detects deletions in band 9p21. This probe is labeled in red
and covers p16 (CDKN2A) as well as p15 (CDKN2B). A green labeled probe which
hybridizes to the heterochromatic region of chromosome 9, at 9q12, functions as a
reference probe.
D-5009-100-RG
XL MYB
Deletion
The XL MYB locus-specific probe detects deletions in the long arm of chromosome 6. This
probe is labeled in red and hybridizes to the MYB locus in 6q23.3. A green labeled probe
which hybridizes to the centromere of chromosome 6 functions as a reference probe.
D-5016-100-RG




Product Probe Description Order No.


MCL Mantle Cell Lymphoma

XL IGH/CCND1
Dual Fusion
The XL IGH/CCND1 is designed as a 'dual color dual fusion' probe. Red labeled probes
flank the breakpoint at 11q13 (CCND1/BCL1) and green labeled probes flank the breakpoint
at 14q32 (IGH).
D-5021-100-RG
XL P16
Deletion
The XL P16 locus-specific probe detects deletions in band 9p21. This probe is labeled in red
and covers p16 (CDKN2A) as well as p15 (CDKN2B). A green labeled probe which
hybridizes to the heterochromatic region of chromosome 9, at 9q12, functions as a
reference probe.
D-5009-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL 13q14.3
Deletion
The XL 13q14.3 probe detects deletions in the respective region of chromosome 13. The
relevant locus-specific probe is labeled in red and includes the markers D13S319, D13S272,
D13S4381 and D13S25. A green labeled probe, specific for the q-terminal region of
chromosome 13 functions as a reference probe.
D-5006-100-RG

Other Lymphomas

XL IGH
Break Apart
The XL IGH probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. The proximal probe is designed to hybridize within the Constant Region of
the IGH locus on chromosome 14 (14q32) and is labeled in red. The green labeled probe is
designed to hybridize to the Variable Region of the IGH locus.
D-5014-100-RG
XL IGH/BCL2
Dual Fusion
The XL IGH/BCL2 is designed as a 'dual color dual fusion' probe. A red labeled probe spans
the breakpoint at 18q21 and green labeled probes flank the breakpoint at 14q32.
D-5018-100-RG
XL ATM
Deletion
The XL ATM locus-specific probe detects deletions in 11q22.3. This probe is labeled in red
and spans from marker D11S2179 within the ATM gene to the NPAT region which is more
distal. A green labeled probe, specific for the centromere of chromosome 11 functions as a
reference probe.
D-5011-100-RG
XL BCL6
Break Apart
The XL BCL6 probe is designed as a 'break apart' probe with two probes juxtaposed and
differently labeled. Its green labeled probe is located several hundred kb distal to the BCL6
gene in 3q27, while a red labeled probe hybridizes proximal to BCL6. The relative wide
separation of the probe binding sites allows for the detection of translocations in the MBR
(major breakpoint cluster region) as well as in the ABR (alternative breakpoint cluster region).
D-5035-100-RG
XL P53
Deletion
The XL P53 probe detects deletions which occur in 17p13 and which involve the TP53
locus. The specific probe is labeled in red while a green labeled probe which hybridizes to
the centromere of chromosome 17 functions as a reference probe.
D-5017-100-RG
XL 13q14.3
Deletion
The XL 13q14.3 probe detects deletions in the respective region of chromosome 13. The
relevant locus-specific probe is labeled in red and includes the markers D13S319, D13S272,
D13S4381 and D13S25. A green labeled probe, specific for the q-terminal region of
chromosome 13 functions as a reference probe.
D-5006-100-RG
XL MYB
Deletion
The XL MYB locus-specific probe detects deletions in the long arm of chromosome 6. This
probe is labeled in red and hybridizes to the MYB locus in 6q23.3. A green labeled probe
which hybridizes to the centromere of chromosome 6 functions as a reference probe.
D-5016-100-RG













References:

Swerdlov S.H., Campo E. Harris N.L., Jaffe E.S., Pileri S.A., Stein H., Thiele J., Vardiman J.W. (Eds.)
WHO Classification of Tumours of the Haematopoietic and Lymphoid Tissues. IARC: Lyon 2008

Heim S., Mitelman F., Cancer Cytogenetics, Wiley-Blackwell, 2009
Probe Types
Deletion Probes
Only the most frequent signal constellation is shown, other relevant signal patterns may be
observed
normal: 2G and 2R

aberrant: 2G and 1R





Break Apart Probes
normal: 2GR fusion

a ab be er rr ra an nt t: : 1G, 1R and 1GR
fusion





Break Apart Triple Color
normal: 2B BB BG GG GR RR R

a ab be er rr ra an nt t: : 1BG, 1R and
1BGR




or
1B, 1GR and 1BGR







Dual Fusion Probes
normal: 2G and 2R

a ab be er rr ra an nt t: : 1G, 1R and 2GR
fusion






Ordering Information

For product and price inquiries, please contact our distribution partner in your country or MetaSystems
directly:

MetaSystems GmbH Tel.: +49 (0)6205 39610
Robert- Bosch-Str. 6 Fax: +49 (0)6205 32270
68804 Altlussheim email: probes@metasystems.de
Germany www.metasystems.de











MetaSystems 2009