| ICD-Topo |
C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho |
9811/3 B lymphoblastic leukaemia/lymphoma, NOS
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| Atlas_Id |
1050 |
| Note |
The 3 translocations are variants of each other, and they share the same clinical significance. |
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Top row: t(2;8)(p12;q24) G- banding - Courtesy Diane H.Norback, Eric B. Johnson, Sara Morrison-Delap; R- banding - (middle right) Courtesy Jean-Luc Lai; (right) Courtesy Hossein Mossafa; below: Courtesy Roland Berger. Middle rows: t(8;14)(q24;q32) G- banding - (left, middle left, center) Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap; R- banding - middle right Courtesy Jean-Luc Lai; right: Jean Loup Huret; below: Courtesy Roland Berger. Lower row: t(8;22)(q24;q11) G- banding (left and center) - Courtesy Diane H. Norback, Eric B.Johnson, Sara Morrison-Delap UW Cytogenetic Services; R- banding - (right) Courtesy Jacques Boyer. |
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| Disease |
Described both in B-cell acute lymphoblastic leukemia (ALL) and in non-Hodgkin lymphomas (NHL), especially in Burkitt lymphoma , and 'double-hit' diffuse large B-cell lymphomas (DLBCL). |
| Phenotype / cell stem origin |
The postulated normal counterpart is the germinal centre or post-germinal centre B-cell. |
| Epidemiology | Most Burkitt lymphoma cases show the t(8;14)(q24;q32) [MYC-IGH] and less commonly the t(8;22)(q24;q11) or t(2;8)(p12;q24). The translocation is present in both the endemic African Burkitt lymphoma and in the non endemic tumor type (Europe, America, and Japan). In case the Burkitt lymphoma infiltrated the bone marrow (leukemic phase) the MYC-translocation can be demonstrated in the bone marrow or blood as well. If no immunophenotyping results are available, it is good practice to exclude a BCL2 rearrangement because a t(8;14) can be observed in other B cell neoplasms (such as double hit DLBCL see below).
Some DLBCL ('double-hit') cases contain the t(8;14) translocation. In some clinical studies patients with DLBCL and MYC rearrangement will receive more aggressive treatment.
The disease defines the prognosis. Given the correct treatment regime Burkitt lymphoma patients do well, while the outcome in double-hit DLBCL patient is totally different. |
| Cytology | ALL : L3 morphology according to the FAB classification, very occasionally L1 or L2 cytology reported. |
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| Bone marrow sample: the medium-sized cells show a diffuse monotonous pattern of infiltration. The nuclei are round, cytoplasm deeply basophilic and usually contain vacuoles. The morphological feature in this bone marrow smear (Giemsa), quite similar to tumor cells as seen in tissue imprints, is highly characteristic of Burkitt lymphoma - Text and iconography Courtesy Georges Flandrin 2005. |
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| Cytogenetics Morphological | t(8;14) is described in 75-85% of the cases, t(2;8) in 5%, and t(8 ;22) in the remaining 10%; high-quality metaphases are required to detect t(8;14) and t(8;22). |
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t(8;14)(q24;q32) IGH/MYC G-banding and Hybridization with Vysis LSI IGH/MYC dual color probe (Abbott Molecular, US) showing fused yellow signals on der(8) and der(14) chromosomes - Courtesy Adriana Zamecnikova. Top right: The figure illustrates the translocation of the MYC gene (probe 944B18, red) to 14q32.3 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. |
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| Additional anomalies | Reported in 70% cases in Burkitt lymphoma and DLBCL, especially: t(14;18)(q32;q21) in double-hit DLBCL lymphoma's, structural rearrangements of the long arm of chromosome 1 (30% cases) resulting in a partial trisomy 1q, rearrangements of 13q34 (15% cases). |
| Variants | t(2;8)(p12;q24) and t(8;22)(q24;q11) are variants of the t(8;14)(q24;q32); three-way rearrangements and translocations of submicroscopic chromosome fragments have also been described. |
| World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues: report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. |
| Harris NL, Jaffe ES, Diebold J, Flandrin G, Muller-Hermelink HK, Vardiman J, Lister TA, Bloomfield CD |
| Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1999 ; 17 (12) : 3835-3849. |
| PMID 10577857 |
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| Molecular biology of Burkitt's lymphoma. |
| Hecht JL, Aster JC |
| Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2000 ; 18 (21) : 3707-3721. |
| PMID 11054444 |
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| Chromosomal abnormalities in adult non-endemic Burkitt's lymphoma and leukemia: 22 new reports and a review of 148 cases from the literature. |
| Kornblau SM, Goodacre A, Cabanillas F |
| Hematological oncology. 1991 ; 9 (2) : 63-78. |
| PMID 1869243 |
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| Diffuse small noncleaved-cell, non-Burkitt's lymphoma in adults: a high-grade lymphoma responsive to ProMACE-based combination chemotherapy. |
| Longo DL, Duffey PL, Jaffe ES, Raffeld M, Hubbard SM, Fisher RI, Wittes RE, DeVita VT Jr, Young RC |
| Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1994 ; 12 (10) : 2153-2159. |
| PMID 7523607 |
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| Clinicopathogenetic significance of chromosomal abnormalities in patients with blastic peripheral B-cell lymphoma. Kiel-Wien-Lymphoma Study Group. |
| Schlegelberger B, Zwingers T, Harder L, Nowotny H, Siebert R, Vesely M, Bartels H, Sonnen R, Hopfinger G, Nader A, Ott G, Müller-Hermelink K, Feller A, Heinz R |
| Blood. 1999 ; 94 (9) : 3114-3120. |
| PMID 10556197 |
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| WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. |
| Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW. |
| 4th Edition; Lyon, France: IARC Press; 2008. |
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