T(14;18)(q32;q21) involving IGH and MALT1 is a frequent chromosomal aberration in MALT lymphoma
| Autor: | Judith Dierlamm, Lorenzo Cerroni, Andreas Chott, Manfred Stolte, Markus Raderer, Andrea Lamprecht, Berthold Streubel, German Ott |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Pathology
medicine.medical_specialty Skin Neoplasms Immunology Chromosomal translocation Trisomy Biology Biochemistry Translocation Genetic immune system diseases hemic and lymphatic diseases medicine Humans Splenic marginal zone lymphoma B cell In Situ Hybridization Fluorescence Chromosomes Human Pair 14 medicine.diagnostic_test Reverse Transcriptase Polymerase Chain Reaction Chromosomes Human Pair 11 Eye Neoplasms Liver Neoplasms MALT lymphoma Cell Biology Hematology Lymphoma B-Cell Marginal Zone medicine.disease Salivary Gland Neoplasms Molecular biology Lymphoma Neoplasm Proteins MALT1 medicine.anatomical_structure Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein Caspases Chromosome abnormality Chromosomes Human Pair 3 Chromosomes Human Pair 18 Immunoglobulin Heavy Chains Fluorescence in situ hybridization |
| Zdroj: | Blood. 101(6) |
| ISSN: | 0006-4971 |
| Popis: | T(11;18)(q21;q21) is the most common structural abnormality in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) leading to the fusion of the apoptosis inhibitor-2 (API2) gene and the MALT lymphoma-associated translocation (MALT1) gene. In 2 patients with MALT lymphoma of the liver and skin, respectively, t(14;18)(q32;q21) was observed by cytogenetic analysis. Subsequent fluorescence in situ hybridization (FISH) studies disclosed that the immunoglobulin heavy-chain locus (IGH) and the MALT1 gene were rearranged by this translocation. In order to screen a large series of MALT lymphomas for this aberration, a 2-color interphase FISH assay was established. Among a total of 66 cases, t(14;18)(q32;q21) involving IGH and MALT1 was detected in MALT lymphomas of the liver (4 of 4), skin (3 of 11), ocular adnexa (3 of 8), and salivary gland (2 of 11), but did not occur in MALT lymphomas of the stomach (n = 10), intestine (n = 9), lung (n = 7), thyroid (n = 4), or breast (n = 2). In total, 12 of 66 (18%) MALT lymphomas harbored t(14;18)(q32;q21); 7 additional cases of splenic marginal zone lymphoma tested negative. All of the 12 MALT lymphomas featuring the t(14;18)(q32;q21) were negative for t(11;18)(q21;q21) by reverse transcriptase–polymerase chain reaction (RT-PCR). However, trisomy 3 and/or 18 was found in 4 of 12 cases, suggesting that the t(14;18)(q32;q21) does not occur as the sole genetic abnormality. This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung. In contrast to t(11;18)(q21;q21)+ MALT lymphomas, those with t(14;18)(q32;q21) may harbor additional genetic abnormalities. |
| Databáze: | OpenAIRE |
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