Difference between revisions of "Translocation t(14;19)(q32;q13.3)"

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Revision as of 15:16, 15 April 2016


Contributors

Daynna Wolff PhD

Description

Translocation t(14;19)(q32;q13.3): IGH/BCL3

It should not be confused with the t(14;19) rearrangement found in B-ALL involving the same breakpoints but targeting IGH and CEBPA.

Tumor Types

Chronic Lymphoid Leukemia (CLL), atypical CLL, transformed CLL

Prevalence

t(14;19) is a rare but recurrent translocation associated with CLL. [needs a specific figure]

Genes Involved

The translocation involves IGH (14q32) and BCL3 (19q13.3). The chromosome 14 breakpoint is in the immunoglobulin heavy chain gene locus (IGH) (often in the switch alpha region) and the 19 breakpoint is located within the 5' region of the BCL3 gene. The translocation results in a head to head juxtaposition of BCL3 and IGH. The translocation does not interrupt the transcriptional integrity of BCL3, but is associated with increased production of a BCL3 RNA.

Variants

Known variants are: t(2;19)(p12;q13) IGK/BCL3 and t(19;22)(q13;q11) BCL3/IGL,

Diagnostic Testing

None noted

Clinical Significance

The t(14;19) is rarely the sole cytogenetic aberration and this translocation is often a secondary finding associated with progression/transformation of CLL and a poor prognosis. Trisomy 12 has been reported in many cases (~50%); other additional findings include deletions of 6q, 7q, 13q and 17p and structural aberrations involving 1q, 3p, 3q, 6p, 7q, 11q, 12p.Most cases exhibit atypical morphology and immunostaining, but the best-fit diagnosis is CLL.

Therapeutics

None noted

Links

References

1. Asou H, Takechi M, Tanaka K, Tashiro S, Dohy H, Ohno R et al (1993) Japanese B cell chronic lymphocytic leukaemia: a cytogenetic and molecular biological study. Br J Haematol 85:492–497PubMedCrossRef

2. Michaux L, Mecucci C, Stul M, Wlodarska I, Hernandez JM, Meeus P et al (1996) BCL3 rearrangement and t(14;19)(q32;q13) in lymphoproliferative disorders. Genes Chromosome Cancer 15:38–47CrossRef

3. Michaux L, Dierlamm J, Wlodarska I, Bours V, Van den Berghe H, Hagemeijer A (1997) t(14;19)/BCL3 rearrangements in lymphoproliferative disorders: a review of 23 cases. Cancer Genet Cytogenet 94:36–43PubMedCrossRef

4. Chapiro E, Radford-Weiss I, Bastard C, Luquet I, Lefebvre C, Callet-Bauchu E et al (2008) The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia. Leukemia 22:2123–2127PubMedCrossRef

5. Huh YO, Abruzzo LV, Rassidakis GZ, Parry-Jones N, Schlette E, Brito-Bapabulle V et al (2007) The t(14;19)(q32;q13)-positive small B-cell leukaemia: a clinicopathologic and cytogenetic study of seven cases. Br J Haematol 136:220–228PubMedCrossRef

6. Martin-Subero JI, Ibbotson R, Klapper W, Michaux L, Callet-Bauchu E, Berger F et al (2007) A comprehensive genetic and histopathologic analysis identifies two subgroups of B-cell malignancies carrying a t(14;19)(q32;q13) or variant BCL3-translocation. Leukemia 21:1532–1544PubMedCrossRef

7. Huh YO, Schweighofer CD, Ketterling RP, Knudson RA, Vega F, Kim JE et al (2011) Chronic lymphocytic leukemia with t(14;19)(q32;q13) is characterized by atypical morphologic and immunophenotypic features and distinctive genetic features. Am J Clin Pathol 135:686–696

8. De Keersmaecker K, Michaux L, Bosly A, Graux C, Ferreiro JF, Vandenberghe P, Cools J, Wlodarska I. Blood 2012 Apr 19:119(16):3864-6 doi: 10.1182/blood-2011-10-388124

9. Shin SY1, Park CJ, Lee KH, Huh J, Chi HS, Seo EJ, An illustrative case of t(14;19)/BCL3 rearrangement as a karyotypic evolution of chronic lymphocytic leukemia. Ann Hematol. 2013 Dec;92(12):1717-9. doi: 10.1007/s00277-013-1753-x.