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FISH, MALT Lymphoma, MALT1, rea18q21 with Reflex to API2/MALT1, t(11;18)
Test CodeMALT1
Alias/See Also
40057
CPT Codes
88271 (x2), 88275
Includes
If FISH, MALT Lymphoma, MALT1, rea18q21 is positive, then FISH, MALT Lymphoma, API2/MALT1, t(11;18) will be performed at an additional charge (CPT code(s): 88271 (x2), 88275),
Preferred Specimen
3 mL bone marrow or 5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Formalin-fixed paraffin embedded tissue • 5x5 mm lymph node tissue or lymph node collected in a sterile container
Instructions
For bone marrow (1-3 mL) or whole blood (3-5 mL) use green top (sodium heparin) tube. For lymph node biopsy 5x5 mm in a sterile container in Hank's Ringer's solution or culture medium with antibiotics. Transportation medium available upon request. Formalin fixed paraffin embedded tissue.
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Mon-Sat
Clinical Significance
This fluorescence in situ hybridization (FISH) assay uses a break-apart probe to detect the MALT1 translocation with reflex to FISH for the BIRC3(API2)/MALT1 fusion gene. The results of this test may aid in the diagnosis of extranodal marginal zone lymphoma of mucosa‐associated lymphoid tissue (MALT lymphoma).
MALT lymphomas-a subtype of marginal zone lymphomas-originate in marginal zone B cells and account for 5% to 8% of B-cell lymphomas [1]. The genetic abnormalities associated with MALT lymphoma include the following: t(11;18) that results in the BIRC3/MALT1 fusion gene, t(14;18) that results in the IGH/MALT1 rearrangement, t(1;14) that results in the IGH/BCL10 rearrangement, and t(3;14) that results in the IGH/FOXP1 fusion gene [2]. The translocations involving MALT1 occur in 20% to 30% of patients with MALT lymphomas [3]. Detecting those translocations may help differentiate MALT lymphomas from other low-grade lymphomas [1].
The BIRC3/MALT1 fusion gene is the most common genetic abnormality of MALT lymphomas and is often detected in the stomach (24%) and the lungs (40%) [1]. In patients with gastric MALT lymphomas, chronic Helicobacter pylori infection contributes to the pathogenesis. The presence of the BIRC3/MALT1 fusion gene is associated with resistance to H pylori eradication therapy and disease dissemination [1,2]. Therefore, a FISH or polymerase chain reaction (PCR) test is recommended for detecting the BIRC3/MALT1 fusion gene in patients with gastric MALT lymphomas [2].
A combination of genetic techniques is often involved in identifying genetic abnormalities. Because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023. https://www.nccn.org
3. Streubel B, et al. Leukemia. 2004;18(10):1722-1726.
MALT lymphomas-a subtype of marginal zone lymphomas-originate in marginal zone B cells and account for 5% to 8% of B-cell lymphomas [1]. The genetic abnormalities associated with MALT lymphoma include the following: t(11;18) that results in the BIRC3/MALT1 fusion gene, t(14;18) that results in the IGH/MALT1 rearrangement, t(1;14) that results in the IGH/BCL10 rearrangement, and t(3;14) that results in the IGH/FOXP1 fusion gene [2]. The translocations involving MALT1 occur in 20% to 30% of patients with MALT lymphomas [3]. Detecting those translocations may help differentiate MALT lymphomas from other low-grade lymphomas [1].
The BIRC3/MALT1 fusion gene is the most common genetic abnormality of MALT lymphomas and is often detected in the stomach (24%) and the lungs (40%) [1]. In patients with gastric MALT lymphomas, chronic Helicobacter pylori infection contributes to the pathogenesis. The presence of the BIRC3/MALT1 fusion gene is associated with resistance to H pylori eradication therapy and disease dissemination [1,2]. Therefore, a FISH or polymerase chain reaction (PCR) test is recommended for detecting the BIRC3/MALT1 fusion gene in patients with gastric MALT lymphomas [2].
A combination of genetic techniques is often involved in identifying genetic abnormalities. Because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023. https://www.nccn.org
3. Streubel B, et al. Leukemia. 2004;18(10):1722-1726.
Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130
