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Test ID: TALPF T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies


Ordering Guidance


This test is only performed on specimens from patients with T-cell acute lymphoblastic leukemia (T-ALL) who are 30 years or younger.

 

This test is intended for instances when the entire T-ALL fluorescence in situ hybridization (FISH) panel is needed for a pediatric patient.

 

This test should NOT be used to screen for residual T-cell acute lymphoblastic leukemia (T-ALL). At follow-up, or if the patient clinically relapses, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) is useful to identify cytogenetic changes in the neoplastic clone or the possible emergence of a new therapy-related myeloid clone. Additionally, targeted T-ALL FISH probes can be evaluated based on the abnormalities identified in the diagnostic study.

 

If targeted T-cell ALL FISH probes are preferred, order TALMF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies.

 

If this test is ordered on a patient older than 31 years of age or older, this test will be canceled and automatically reordered by the laboratory as TALAF/ T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies.

 

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 COGTF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies.

 

If BALPF / B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies testing is ordered concurrently with this test, the laboratory may cancel TALPF and automatically reorder as TALMF / T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies with the following FISH probes: TLX3/BCL11B, break-apart TRB, break-apart TRAD, MLLT10/PICALM, TAL1/STIL. If an abnormality is identified that would result in reflex testing in TALPF, the same reflex testing will be performed in the TALMF. This cancellation is necessary to avoid duplicate testing. Probes for CDKN2A/D9Z1, ABL1/BCR, break-apart MLL, TP53/D17Z1 will still be performed as part of the pediatric B-ALL FISH panel.

If the patient clinically relapses, a conventional chromosome study is useful to identify cytogenetic changes in the neoplastic clone or the possible emergence of a new therapy-related myeloid clone.

 

For patients with T-cell lymphoma, order TLPDF / T-Cell Lymphoma, Diagnostic FISH, Varies.

 

For testing paraffin-embedded tissue samples from patients with T-cell lymphoblastic leukemia/lymphoma (T-LBL), order TLBLF / T-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue. If a paraffin-embedded tissue sample is submitted for this test, testing will be canceled and TLBLF will be added and performed as the appropriate test.



Additional Testing Requirements


At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and this fluorescence in situ hybridization (FISH) panel should be performed. If there is limited specimen available, only this FISH test will be performed.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.

2. 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, but appropriate testing and interpretation may be compromised or delayed.



Specimen Required


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 to 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.


Useful For

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients

 

As an adjunct to conventional chromosome studies in pediatric/young adult patients with T-ALL

 

Evaluating specimens in which chromosome studies are unsuccessful

 

This test should not be used to screen for residual T-ALL

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 9 probe sets (18 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

 

This test is performed as panel testing only using the following analysis algorithm.

 

The diagnostic pediatric/young adult T-cell acute lymphoblastic leukemia (T-ALL) FISH panel includes testing for the following abnormalities using the FISH probes listed:

+9/9p-, CDKN2A/D9Z1

ABL1 amplification or t(9;22)(q34;q11.2), ABL1/BCR

t(11q23;var) or 11q23 rearrangement, MLL(KMT2A) break-apart

-17/17p-, TP53/D17Z1

t(5;14)(q35;q32) or TLX3::BCL11B fusion, TLX3/BCL11B

t(7q34;var) or 7q34 rearrangement, TRB break-apart

t(14q11.2;var) or 14q11.2 rearrangement, TRAD break-apart

t(10;11)(p12;q14) or MLLT10::PICALM fusion, MLLT10/PICALM fusion

1p33 rearrangement or STIL deletion, TAL1/STIL

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

 

When an MLL(KMT2A) rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1::MLL(KMT2A) fusion, t(6;11)(q27;q23) MLLT4(AFDN)::MLL(KMT2A) fusion, t(9;11)(p22;q23) MLLT3::MLL(KMT2A) fusion, t(10;11)(p12;q23) MLLT10::MLL(KMT2A) fusion, t(11;19)(q23;p13.1) MLL(KMT2A)::ELL fusion or t(11;19)(q23;p13.3) MLL(KMT2A)::MLLT1 fusion. In the event an 11q23 translocation is identified by chromosome analysis, only the targeted MLL reflex probe will be performed if applicable.

 

When a TRAD(TCR alpha delta) rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner. Probes include identification of t(11;14)(p15;q11.2) LMO1::TRAD fsuion, t(8;14)(q24.1;q11.2) MYC::TRAD fusion, t(10;14)(q24;q11.2) TLX1(HOX11)::TRAD fusion, t(11;14)(p13;q11.2) LMO2::TRAD fusion. In the event a 14q11.2 translocation is identified by chromosome analysis, only the targeted TRAD reflex probe will be performed if applicable.

 

When a TRB(TCR beta) rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner. Probes include identification of t(7;10)(q34;q24) TRB::TLX1 fusion, t(7;11)(q34;p15) TRB::LMO1 fusion, t(7;11)(q34;p13) TRB::LMO2 fusion, t(6;7)(q23;q34) MYB::TRB fusion. In the event a 7q34 translocation is identified by chromosome analysis, only the targeted TRB reflex probe will be performed if applicable.

 

In the absence of BCR::ABL1 fusion or apparent episomal amplification of ABL1, when an extra ABL1 signal is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement. In the event a 9q34 translocation is (or has been) identified by chromosome analysis, reflex testing will only be performed if applicable.

 

For more information See Acute Leukemias of Ambiguous Lineage Testing Algorithm.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Pediatric ALL (T-cell), FISH

Specimen Type

Varies

Specimen Minimum Volume

Bone marrow: 1 mL; Whole blood: 2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Clinical Information

In the United States, the incidence of acute lymphoblastic leukemia (ALL) is roughly 6000 new cases per year (as of 2019). ALL accounts for approximately 70% of all childhood leukemia cases (ages 0 to 19 years), making it the most common childhood cancer.

 

Approximately 85% of pediatric cases of ALL are of B-cell lineage (B-ALL) and 15% are of T-cell lineage (T-ALL). T-ALL is more common in adolescents than younger children and accounts for 25% of adult ALL. When occurring as a primary lymphoblastic lymphoma (LBL), approximately 90% are T-cell lineage versus only 10% B-cell lineage. T-LBL often present as a mediastinal mass in younger patients with or without concurrent bone marrow involvement.

 

An abnormal karyotype is found in 50% to 70% of T-ALL cases, although many of the classic abnormalities are "cryptic" by conventional chromosome studies and must be identified by fluorescence in situ hybridization studies and are associated with various prognoses. One predictive marker, amplification of the ABL1 gene region, has been identified in 5% of T-ALL, and these patients may be responsive to targeted tyrosine kinase inhibitors.

 

A summary of the characteristic chromosome abnormalities identified in T-ALL are listed in the following table.

 

Table. Common Chromosome Abnormalities in T-cell Acute Lymphoblastic Leukemia

Cytogenetic change

Genes involved

del(1p33)

TAL1/STIL

t(5;14)(q35;q32)

TLX3/BCL11B

t(10;11)(p12;q14)

MLLT10/PICALM

Episomal amplification

ABL1

del(9p)

CDKN2A(p16)

t(11q23;var)

MLL(KMT2A)

t(4;11)(q21;q23)

AFF1/MLL(KMT2A)

t(6;11)(q27;q23)

MLLT4(AFDN)/MLL(KMT2A)

t(9;11)(p22;q23)

MLLT3/MLL(KMT2A)

t(10;11)(p12;q23)

MLLT10/MLL(KMT2A)

t(11;19)(q23;p13.1)

MLL(KMT2A)/ELL

t(11;19)(q23;p13.3)

MLL(KMT2A)/MLLT1

t(7q34;var)

TRB

t(6;7)(q23;q34)

MYB/TRB

t(7;10)(q34;q24)

TRB/TLX1

t(7;11)(q34;p15)

TRB/LMO1

t(7;11)(q34;p13)

TRB/LMO2

t(14q11.2;var)

TRAD

t(8;14)(q24.1;q11.2)

MYC/TRAD

t(10;14)(q24;q11.2)

TLX1/TRAD

t(11;14)(p15;q11.2)

LMO1/TRAD

t(11;14)(p13;q11.2)

LMO2/TRAD

del(17p)

TP53

Reference Values

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe set.

 

The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.

Clinical Reference

1. WHO Classification of Tumours Editorial Board, eds. Haematolymphoid tumours. 5th ed. IARC Press; 2024. WHO Classification of Tumours, Volume 11

2. Gesk S, Martin-Subero JI, Harder L, et al. Molecular cytogenetic detection of chromosomal breakpoints in T-cell receptor gene loci. Leukemia. 2003;17(4):738-745

3. Chin M, Mugishima H, Takamura M, et al: Hemophagocytic syndrome and hepatosplenic (gamma)(delta) T-cell lymphoma with isochromosome 7q and 8 trisomy. J Pediatr Hematol Oncol. 2004;26(6):375-378

4. Graux C, Cools J, Michaux L, et al. Cytogenetics and molecular genetics of T-cell acute lymphoblastic leukemia: from thymocyte to lymphoblast. Leukemia. 2006;20:1496-1510

5. Liu Y, Easton J, Shao Y, et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet. 2017;49(8):1211-1218

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

88271x18, 88275x9, 88291x1- FISH Probe, Analysis, Interpretation; 9 probe sets

88271x2, 88275x1-FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TALPF Pediatric ALL (T-cell), FISH In Process

 

Result ID Test Result Name Result LOINC Value
609568 Result Summary 50397-9
609569 Interpretation 69965-2
609570 Result Table 93356-4
609571 Result 62356-1
GC074 Reason for Referral 42349-1
GC075 Specimen 31208-2
609572 Source 31208-2
609573 Method 85069-3
609574 Additional Information 48767-8
609575 Disclaimer 62364-5
609576 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
TALPB Probe, Each Additional (TALPF) No, (Bill Only) No

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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