An adjunct to conventional chromosome studies in congenital and infant patients with acute leukemia
Test Id | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CILDB | Probe, Each Additional (CILDF) | No, (Bill Only) | No |
This test includes a charge for the probe application, analysis, and professional interpretation of results for 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
This FISH test allows different combinations of probes to be utilized based on the patient's age.
All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.
The FISH panel for patients younger than 3 months of age (congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
*t(11;19)(q23;p13.3) MLL/MLLT1
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
t(1;22), RBM15/MKL1
+13/+21, 13q14 and 21q22
If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.
The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient's diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL].
AML: The initial FISH panel for patients with AML includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:
*16q22 rearrangement, CBFB break-apart
t(8;21), RUNX1T1/RUNX1
t(15;17), PML/RARA
*17q21 rearrangement, RARA break-apart
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
inv(3) or t(3;3), RPN1/MECOM
*3q26.2 rearrangement, MECOM break-apart
t(6;9), DEK/NUP214
12p13 rearrangement, ETV6 break-apart
*t(7;12)(q36;p13), MNX1/ETV6
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
*t(7;11)(p15;p15.4), HOXA9/NUP98
t(1;22), RBM15/MKL1
B-ALL/LBL: The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(1;19)(q23;p13), PBX1/TCF3
Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1
t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21
*12p13 rearrangement, ETV6 break-apart
*21q22 rearrangement, RUNX1 break-apart
14q32 rearrangement, IGH break-apart
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement
*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement
8q24.1 rearrangement, MYC break-apart
*3q27 rearrangement, BCL6 break-apart
*18q21 rearrangement, BCL2 break-apart
If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:
1q25 rearrangement, ABL2 break-apart
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
7p-, IKZF1/CEP7
T-ALL/LBL: The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A) break-apart
*t(6;11)(q27;q23) MLLT4(AFDN)/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1 fusion, ABL1 amplification
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(5;14), TLX3/BCL11B
7q34 rearrangement, TRB break-apart
*t(6;7) - MYB/TRB
*t(7;10) - TRB/TLX1
*t(7;11) - TRB/LMO1
*t(7;11) - TRB/LMO2
14q11.2 rearrangement, TRAD break-apart
*t(8;14) - MYC/TRAD
*t(10;14) - TLX1/TRAD
*t(11;14) - LMO1/TRAD
*t(11;14) - LMO2/TRAD
t(10;11), MLLT10/PICALM
1p33 rearrangement, TAL1/STIL
Fluorescence In Situ Hybridization (FISH)
-5 (monosomy 5)
-7 (monosomy 7)
NUP98 rearrangement
5q- (5q deletion)
7q- (7q deletion)
Acute Promyelocytic Leukemia (APL)
inv(16) - inv(16) - MYH11/CBFB
inv(3) - inv(3) - RPN1/MECOM or RPN1/EVI
MLL or KMT2A (11q23) rearrangement
t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1
*t(6;11)(q27;q23) MLLT4(AFDN)/MLL
t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL
t(11;19)(q23;p13.1) - MLL/ELL
t(11;19)(q23;p13.3) - MLL/MLLT1 or MLL/ENL
t(15;17)(q24.1;q21) - PML/RARA
t(16;16)(p13.1;q22) - MYH11/CBFB
t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1
t(4;11)(q21;q23) - AFF1/MLL or AF4/MLL
t(6;9)(p23;q34) - DEK/NUP214 or DEK/CAN
t(7;11)(p15;p15.4) - HOXA9/NUP98
t(8;16)(p11.2;p13.3) - KAT6A/CREBBP or MYST3/CREBBP
t(8;21)(q22;q22) - RUNX1T1/RUNX1 or ETO/AML1
t(9;11)(p22;q23) - MLLT3/MLL or AF9/MLL
inv(16)(p24.3;p13.3) - GLIS2/CBFA2T3
+4,+10,+17
17p- (17p deletion) or TP53
9p- (9p deletion) or CDKN2A or p16
ABL1 (9q34) rearrangement
ABL2 (1q25) rearrangement
BCR-ABL1 like ALL
CRLF2 (Xp22.33) or (Yp11.32) rearrangement
Hyperdiploidy
Hypodiploid/pseudo-hyperdiploid
Hypotriploid/Near-Triploid
iAMP21 or RUNX1 amplification
IGH (14q32) rearrangement
IKZF1 deletion
JAK2 (9p24.1) rearrangement
MYC (8q24.1) rearrangement
P2RY8 (Xp22.33) or (Yp11.32) rearrangement
Ph-like ALL
t(1;19)(q23;p13.3) - PBX1/TCF3
t(12;21)(p13;q22) - TEL/AML1 or ETV6/RUNX1
t(9;22)(q34;q11.2) - BCR/ABL1
t(X;14)(p22.33;q32) - CRLF2/IGH
t(Y;14)(p11.32;q32) - CRLF2/IGH
ETV6 rearrangement, ETV6
ABL1 amplification
t(10;11)(p12;q14) - MLLT10/PICALM or AF10/PICALM
t(10;14)(q24;q11.2) - TLX1/TRAD or HOX11/TRAD
t(11;14)(p13;q11.2) - LMO2/TRAD
t(11;14)(p15;q11.2) - LMO1/TRAD
t(5;14)(q35;q32) - TLX3/BCL11B or HOX11L2/BCL11B
t(6;7)(q23;q34) - MYB/TRB
t(7;10)(q34;q24) - TRB/TLX1
t(7;11)(q34;p13) - TRB/LMO2
t(7;11)(q34;p15) - TRB/LMO1
t(8;14)(q24.1;q11.2) - MYC/TRAD
T-cell receptor alpha/delta (TRAD) (14q11.2) rearrangement
T-cell receptor beta (TRB) (7q34) rearrangement
TAL1/STIL (1p33) rearrangement or TAL/SIL
PDGFRB (5q32) rearrangement
This test includes a charge for the probe application, analysis, and professional interpretation of results for 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
This FISH test allows different combinations of probes to be utilized based on the patient's age.
All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.
The FISH panel for patients younger than 3 months of age (congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
*t(11;19)(q23;p13.3) MLL/MLLT1
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
t(1;22), RBM15/MKL1
+13/+21, 13q14 and 21q22
If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.
The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient's diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL].
AML: The initial FISH panel for patients with AML includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:
*16q22 rearrangement, CBFB break-apart
t(8;21), RUNX1T1/RUNX1
t(15;17), PML/RARA
*17q21 rearrangement, RARA break-apart
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
inv(3) or t(3;3), RPN1/MECOM
*3q26.2 rearrangement, MECOM break-apart
t(6;9), DEK/NUP214
12p13 rearrangement, ETV6 break-apart
*t(7;12)(q36;p13), MNX1/ETV6
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
*t(7;11)(p15;p15.4), HOXA9/NUP98
t(1;22), RBM15/MKL1
B-ALL/LBL: The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(1;19)(q23;p13), PBX1/TCF3
Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1
t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21
*12p13 rearrangement, ETV6 break-apart
*21q22 rearrangement, RUNX1 break-apart
14q32 rearrangement, IGH break-apart
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement
*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement
8q24.1 rearrangement, MYC break-apart
*3q27 rearrangement, BCL6 break-apart
*18q21 rearrangement, BCL2 break-apart
If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:
1q25 rearrangement, ABL2 break-apart
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
7p-, IKZF1/CEP7
T-ALL/LBL: The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A) break-apart
*t(6;11)(q27;q23) MLLT4(AFDN)/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1 fusion, ABL1 amplification
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(5;14), TLX3/BCL11B
7q34 rearrangement, TRB break-apart
*t(6;7) - MYB/TRB
*t(7;10) - TRB/TLX1
*t(7;11) - TRB/LMO1
*t(7;11) - TRB/LMO2
14q11.2 rearrangement, TRAD break-apart
*t(8;14) - MYC/TRAD
*t(10;14) - TLX1/TRAD
*t(11;14) - LMO1/TRAD
*t(11;14) - LMO2/TRAD
t(10;11), MLLT10/PICALM
1p33 rearrangement, TAL1/STIL
Varies
This test is intended to be ordered when the entire congenital infantile leukemia fluorescence in situ hybridization (FISH) panel is needed.
-If this test is ordered on a patient 19 months or older, this test will be canceled and automatically reordered by the laboratory as BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies; TALPF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies; or AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies, based on patient's reason for testing.
-If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGBF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies; COGTF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies; or COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies, based on the patient's protocol.
If limited congenital infantile leukemia FISH probes are preferred, order CILMF / Congenital Infantile Leukemia, Specified FISH, Varies.
At follow-up, targeted FISH probes can be evaluated based on the abnormalities identified in the diagnostic study. Order CILMF / Congenital Infantile Leukemia, Specified FISH, Varies and request specific probes or abnormalities.
At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this panel should be performed.
Advise Express Mail or equivalent if not on courier service.
A reason for testing and a flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided; however, appropriate testing and interpretation may be compromised or delayed. If not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Question ID | Description | Answers |
---|---|---|
GC083 | Reason for Referral | |
GC084 | Specimen |
Whole blood ACD Bone marrow ACD Whole blood Na Hep Bone marrow Na Hep Whole blood EDTA Bone marrow EDTA |
Submit only 1 of the following specimens:
Preferred
Specimen Type: Bone marrow
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 2-3 mL
Collection Instructions:
1. It is preferable to send the first aspirate from the bone marrow collection.
2. Invert several times to mix bone marrow.
3. Send bone marrow specimen in original tube. Do not aliquot.
Acceptable
Specimen Type: Whole blood
Container/Tube:
Preferred: Yellow top (ACD)
Acceptable: Green top (heparin) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Blood: 2 mL
Bone Marrow: 1 mL
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Refrigerated |
An adjunct to conventional chromosome studies in congenital and infant patients with acute leukemia
This test includes a charge for the probe application, analysis, and professional interpretation of results for 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.
This FISH test allows different combinations of probes to be utilized based on the patient's age.
All probes marked with an asterisk* will be performed as automatic reflex testing if the initial evaluation of the primary gene target is disrupted or potentially disrupted. Patients found to have a MYC rearrangement will be automatically reflexed to the break-apart BCL6 and BCL2 probe sets. Patients found to have three copies of the KAT6A probe will be reflexed with D8Z2/MYC.
The FISH panel for patients younger than 3 months of age (congenital acute leukemia) includes testing for the following abnormalities using the FISH probes listed:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
*t(11;19)(q23;p13.3) MLL/MLLT1
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
t(1;22), RBM15/MKL1
+13/+21, 13q14 and 21q22
If no classic abnormalities are observed and conventional chromosome results are available and abnormal, additional FISH probes may be offered.
The FISH panel for patients 3 to 18 months of age (infant acute leukemia) is dependent on the reason for testing and the patient's diagnosis (acute myeloid leukemia [AML], B-cell acute lymphoblastic leukemia/lymphoma [B-ALL/LBL], or T-cell acute lymphoblastic leukemia/lymphoma [T-ALL/LBL].
AML: The initial FISH panel for patients with AML includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary AML FISH probes will be evaluated:
*16q22 rearrangement, CBFB break-apart
t(8;21), RUNX1T1/RUNX1
t(15;17), PML/RARA
*17q21 rearrangement, RARA break-apart
-5/5q-, D5S630/EGR1
-7/7q-, D7Z1/ D7S486
inv(3) or t(3;3), RPN1/MECOM
*3q26.2 rearrangement, MECOM break-apart
t(6;9), DEK/NUP214
12p13 rearrangement, ETV6 break-apart
*t(7;12)(q36;p13), MNX1/ETV6
t(8;16), KAT6A/CREBBP
*D8Z2/MYC for trisomy 8
inv(16), GLIS2/CBFA2T3
11p15.4 rearrangement, NUP98 break-apart
*t(7;11)(p15;p15.4), HOXA9/NUP98
t(1;22), RBM15/MKL1
B-ALL/LBL: The initial FISH panel for patients with B-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A)
*t(4;11)(q21;q23) AFF1/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
If an MLL(KMT2A) disruption is not identified, the following secondary panel of B-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(1;19)(q23;p13), PBX1/TCF3
Hyperdiploidy, +4,+10,+17: D4Z1/D10Z1/D17Z1
t(12;21)(p13;q22), ETV6/RUNX1 fusion and iAMP21
*12p13 rearrangement, ETV6 break-apart
*21q22 rearrangement, RUNX1 break-apart
14q32 rearrangement, IGH break-apart
t(Xp22.33;var) or t(Yp11.32;var), CRLF2 rearrangement
*t(X;14)(p22.33;q32) or t(Y;14)(p11.32;q32), CRLF2/IGH
t(Xp22.33;var) or t(Yp11.32;var), P2RY8 rearrangement
8q24.1 rearrangement, MYC break-apart
*3q27 rearrangement, BCL6 break-apart
*18q21 rearrangement, BCL2 break-apart
If a classic B-ALL/LBL abnormality is not identified in the first 11 probes analyzed, the following tertiary panel of B-cell ALL FISH probes will be evaluated:
1q25 rearrangement, ABL2 break-apart
5q32 rearrangement, PDGFRB break-apart
9p24.1 rearrangement, JAK2 break-apart
9q34 rearrangement, ABL1 break-apart
7p-, IKZF1/CEP7
T-ALL/LBL: The initial FISH panel for patients with T-ALL/LBL includes testing for the following abnormalities:
11q23 rearrangement, MLL (KMT2A) break-apart
*t(6;11)(q27;q23) MLLT4(AFDN)/MLL
*t(9;11)(p22;q23) MLLT3/MLL
*t(10;11)(p12;q23) MLLT10/MLL
*t(11;19)(q23;p13.3) MLL/MLLT1
*t(11;19)(q23;p13.1) MLL/ELL
If an MLL(KMT2A) disruption is not identified, the following secondary panel of T-ALL/LBL FISH probes will be evaluated:
t(9;22) BCR/ABL1 fusion, ABL1 amplification
*9q34 rearrangement, ABL1 break-apart
-17/17p-, TP53/D17Z1
t(5;14), TLX3/BCL11B
7q34 rearrangement, TRB break-apart
*t(6;7) - MYB/TRB
*t(7;10) - TRB/TLX1
*t(7;11) - TRB/LMO1
*t(7;11) - TRB/LMO2
14q11.2 rearrangement, TRAD break-apart
*t(8;14) - MYC/TRAD
*t(10;14) - TLX1/TRAD
*t(11;14) - LMO1/TRAD
*t(11;14) - LMO2/TRAD
t(10;11), MLLT10/PICALM
1p33 rearrangement, TAL1/STIL
Characteristic genetic abnormalities have been identified in both the congenital acute leukemia and infant acute leukemia setting, each with uniquely associated clinical-pathologic correlations. Rare but important patients with KAT6A/CREBBP translocations and congenital acute leukemia have been described with spontaneously remitting AML despite the lack of therapeutic intervention. In addition, transient abnormal myelopoiesis associated with Down syndrome is another common manifestation encountered in the neonatal setting that can be associated with the development of infant acute leukemia. In contrast, nearly 80% of infant acute leukemia cases are associated with MLL(KMT2A) translocation events with varying percentages of translocation partners based on an AML versus B-ALL/LBL presentation.
Due to the underlying genetic heterogeneity associated with both congenital and infant leukemia and the important prognostic, diagnostic and occasional therapeutic targets identified, appropriate genetic characterization of this uncommon acute leukemia presentation is critical. These thorough fluorescence in situ hybridization (FISH) panels have been developed by Mayo Clinic Laboratories to interrogate the more common AML and B-ALL abnormalities associated with both congenital and infant acute leukemias. These FISH probes have been validated both in bone marrow/blood (this test) and in paraffin (CILPF / Congenital Infantile Leukemia, FISH, Tissue), since a significant minority of these patients present clinically with isolated extramedullary (tissue) manifestations (ie, myeloid sarcoma).
An interpretive report will be provided.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe.
The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.
Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects chromosome abnormalities associated with other hematological disorders that would be missed by this FISH panel test.
Bone marrow is the preferred sample type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are neoplastic cells in the blood specimen (as verified by a hematopathologist).
Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.
1. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumours. Vol 2. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017
2. Tomizawa D: Recent progress in the treatment of infant acute lymphoblastic leukemia. Pediatr Int. 2015 Oct;57(5):811-819. doi: 10.1111/ped.12758
3. Inaba H, Zhou Y, Abla O, et al: Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study. Blood. 2015 Sep 24;126(13):1575-1584. doi: 10.1182/blood-2015-02-629204
4. Coenen EA, Zwaan CM, Reinhardt D, et al: Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Munster AML-study group. Blood. 2013 Oct 10;122(15):2704-2713. doi: 10.1182/blood-2013-02-485524
This test is performed using commercially available and laboratory-developed probes. Gain or loss of chromosomes 4, 5, 7, 8, 13, 17, and 21 are detected using enumeration strategy probes. Deletion of the CDKN2A locus on chromosome 9, TP53 on chromosome 17, and deletion of IKZF1 on chromosome 7 are detected using an enumeration strategy.
Rearrangements involving the following genes: MLL (KMT2A), NUP98, ETV6, CBFB, RARA, ABL2, PDGFRB, MYC, JAK2, ABL1, IGH, CRLF2, P2RY8, TAL1/STIL, TRB, and TRAD are detected using a dual-color break-apart (BAP) strategy probe. If a MYC gene region separation is identified, break-apart BCL2 and BCL6 will be evaluated using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect inv(3), inv(16), t(8;21), t(15;17), t(6;9), t(8;16), t(3;21), t(1;3), t(1;22), t(7;11), t(7;12), t(9;22), t(12;21), t(1;19), t(5;14), t(9;22), t(10;11), and in reflex testing when a rearrangement of the MLL, TRB, TRAD gene region is observed. Amplification of ABL1 (9q34) or RUNX1 (iAMP21; 21q22) is detected using a D-FISH probe strategy. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei.(Unpublished Mayo method)
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
88271 x 8, 88275 x 4, 88291-FISH Probe, Analysis, Interpretation; 4 probe sets
88271 x 2, 88275-FISH Probe, Analysis; each additional probe set (if appropriate)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
CILDF | Cong Infantile Leukemia, Diag FISH | In Process |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
609598 | Result Summary | 50397-9 |
609599 | Interpretation | 69965-2 |
609600 | Result Table | 93356-4 |
609601 | Result | 62356-1 |
GC083 | Reason for Referral | 42349-1 |
GC084 | Specimen | 31208-2 |
609602 | Source | 31208-2 |
609603 | Method | 85069-3 |
609604 | Additional Information | 48767-8 |
609605 | Disclaimer | 62364-5 |
609606 | Released By | 18771-6 |
Change Type | Effective Date |
---|---|
New Test | 2021-12-13 |