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Peripheral T-cell lymphoma with t(6;14)(p25;q11.2) translocation presenting with massive splenomegaly

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Abstract

Recurrent chromosomal translocations associated to peripheral T-cell lymphomas (PTCL) are rare. Here, we report a case of PTCL, not otherwise specified (NOS) with the karyotype 46,Y,add(X)(p22),t(6;14)(p25;q11) and FISH-proved breakpoints in the IRF4 and TCRAD loci, leading to juxtaposition of both genes. A 64-year-old male patient presented with mild cytopenias and massive splenomegaly. Splenectomy showed diffuse red pulp involvement by a pleomorphic medium- to large-cell T-cell lymphoma with a CD2+ CD3+ CD5− CD7− CD4+ CD8+/− CD30− TCRbeta-F1+ immunophenotype, an activated cytotoxic profile, and strong MUM1 expression. The clinical course was marked by disease progression in the bone marrow under treatment and death at 4 months. In contrast with two t(6;14)(p25;q11.2)-positive lymphomas previously reported to be cytotoxic PTCL, NOS with bone marrow and skin involvement, this case was manifested by massive splenomegaly, expanding the clinical spectrum of PTCLs harboring t(6;14)(p25;q11.2) and supporting consideration of this translocation as a marker of biological aggressiveness.

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References

  1. Swerdlow S, Campo E, Harris N, Jaffe E, Pileri S, Stein H, Thiele J, Vardiman J (2008) WHO classification of tumours of haematopoietic and lymphoid tissues. IARC, Lyon

    Google Scholar 

  2. Streubel B, Vinatzer U, Willheim M, Raderer M, Chott A (2006) Novel t(5;9)(q33;q22) fuses ITK to SYK in unspecified peripheral T-cell lymphoma. Leukemia 20(2):313–318

    Article  CAS  PubMed  Google Scholar 

  3. Feldman AL, Law M, Remstein ED, Macon WR, Erickson LA, Grogg KL, Kurtin PJ, Dogan A (2009) Recurrent translocations involving the IRF4 oncogene locus in peripheral T-cell lymphomas. Leukemia 23(3):574–580

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Bisig B, Gaulard P, de Leval L (2012) New biomarkers in T-cell lymphomas. Best Pract Res Clin Haematol 25(1):13–28. doi:10.1016/j.beha.2012.01.004

    Article  CAS  PubMed  Google Scholar 

  5. Vasmatzis G, Johnson SH, Knudson RA, Ketterling RP, Braggio E, Fonseca R, Viswanatha DS, Law ME, Kip NS, Ozsan N, Grebe SK, Frederick LA, Eckloff BW, Thompson EA, Kadin ME, Milosevic D, Porcher JC, Asmann YW, Smith DI, Kovtun IV, Ansell SM, Dogan A, Feldman AL (2012) Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas. Blood 120(11):2280–2289. doi:10.1182/blood-2012-03-419937

    Article  CAS  PubMed  Google Scholar 

  6. Salaverria I, Philipp C, Oschlies I, Kohler CW, Kreuz M, Szczepanowski M, Burkhardt B, Trautmann H, Gesk S, Andrusiewicz M, Berger H, Fey M, Harder L, Hasenclever D, Hummel M, Loeffler M, Mahn F, Martin-Guerrero I, Pellissery S, Pott C, Pfreundschuh M, Reiter A, Richter J, Rosolowski M, Schwaenen C, Stein H, Trumper L, Wessendorf S, Spang R, Kuppers R, Klapper W, Siebert R (2011) Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults. Blood 118(1):139–147. doi:10.1182/blood-2011-01-330795

    Article  CAS  PubMed  Google Scholar 

  7. Gesk S, Martin-Subero JI, Harder L, Luhmann B, Schlegelberger B, Calasanz MJ, Grote W, Siebert R (2003) Molecular cytogenetic detection of chromosomal breakpoints in T-cell receptor gene loci. Leukemia 17(4):738–745

    Article  CAS  PubMed  Google Scholar 

  8. Kahl C, Gesk S, Harder L, Harbott J, French L, Deloukas P, Grote W, Schlegelberger B, Siebert R (2001) Detection of translocations involving the HOX11/TCL3-locus in 10q24 by interphase fluorescence in situ hybridization. Cancer Genet Cytogenet 129(1):80–84

    Article  CAS  PubMed  Google Scholar 

  9. Nelson M, Horsman DE, Weisenburger DD, Gascoyne RD, Dave BJ, Loberiza FR, Ludkovski O, Savage KJ, Armitage JO, Sanger WG (2008) Cytogenetic abnormalities and clinical correlations in peripheral T-cell lymphoma. Br J Haematol 141(4):461–469

    Article  CAS  PubMed  Google Scholar 

  10. Leich E, Haralambieva E, Zettl A, Chott A, Rudiger T, Holler S, Muller-Hermelink HK, Ott G, Rosenwald A (2007) Tissue microarray-based screening for chromosomal breakpoints affecting the T-cell receptor gene loci in mature T-cell lymphomas. J Pathol 213(1):99–105

    Article  CAS  PubMed  Google Scholar 

  11. Feldman AL, Law M, Grogg KL, Thorland EC, Fink S, Kurtin PJ, Macon WR, Remstein ED, Dogan A (2008) Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization. Am J Clin Pathol 130(2):178–185

    Article  PubMed Central  PubMed  Google Scholar 

  12. Martin-Subero JI, Wlodarska I, Bastard C, Picquenot JM, Hoppner J, Giefing M, Klapper W, Siebert R (2006) Chromosomal rearrangements involving the BCL3 locus are recurrent in classical Hodgkin and peripheral T-cell lymphoma. Blood 108(1):401–402, author reply 402–403

    Article  CAS  PubMed  Google Scholar 

  13. Almire C, Bertrand P, Ruminy P, Maingonnat C, Wlodarska I, Martin-Subero JI, Siebert R, Tilly H, Bastard C (2007) PVRL2 is translocated to the TRA@ locus in t(14;19)(q11;q13)-positive peripheral T-cell lymphomas. Genes, Chromosomes and Cancer 46(11):1011–1018

    Article  CAS  PubMed  Google Scholar 

  14. Pham-Ledard A, Prochazkova-Carlotti M, Laharanne E, Vergier B, Jouary T, Beylot-Barry M, Merlio JP (2010) IRF4 gene rearrangements define a subgroup of CD30-positive cutaneous T-cell lymphoma: a study of 54 cases. J Invest Dermatol 130(3):816–825. doi:10.1038/jid.2009.314

    Article  CAS  PubMed  Google Scholar 

  15. Wada DA, Law ME, Hsi ED, Dicaudo DJ, Ma L, Lim MS, Souza AD, Comfere NI, Weenig RH, Macon WR, Erickson LA, Ozsan N, Ansell SM, Dogan A, Feldman AL (2010) Specificity of IRF4 translocations for primary cutaneous anaplastic large cell lymphoma: a multicenter study of 204 skin biopsies. Mod Pathol 24(4):596–605. doi:10.1038/modpathol.2010.225

    Article  PubMed Central  PubMed  Google Scholar 

  16. Feldman AL, Dogan A, Smith DI, Law ME, Ansell SM, Johnson SH, Porcher JC, Ozsan N, Wieben ED, Eckloff BW, Vasmatzis G (2011) Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing. Blood 117(3):915–919. doi:10.1182/blood-2010-08-303305

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Gualco G, Weiss LM, Bacchi CE (2010) MUM1/IRF4: a review. Appl Immunohistochem Mol Morphol 18(4):301–310. doi:10.1097/PAI.0b013e3181cf1126

    Article  CAS  PubMed  Google Scholar 

  18. Chan JK (2003) Splenic involvement by peripheral T-cell and NK-cell neoplasms. Semin Diagn Pathol 20(2):105–120

    Article  PubMed  Google Scholar 

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Conflict of interest

We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Pathology, B35, University of Liege, CHU Sart Tilman, Liege, Belgium

    Joan Somja

  2. Institute of Pathology, CHUV, University Hospital Lausanne, 25 rue du Bugnon, 1011, Lausanne, Switzerland

    Bettina Bisig & Laurence de Leval

  3. Department of Hematology, University of Liege, CHU Sart Tilman, Liege, Belgium

    Christophe Bonnet

  4. Department of Human Genetics, University of Liege, CHU Sart Tilman, Liege, Belgium

    Christian Herens

  5. Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

    Reiner Siebert

Authors
  1. Joan Somja
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  2. Bettina Bisig
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  3. Christophe Bonnet
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  4. Christian Herens
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  5. Reiner Siebert
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  6. Laurence de Leval
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Corresponding author

Correspondence to Laurence de Leval.

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Joan Somja and Bettina Bisig contributed equally.

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Somja, J., Bisig, B., Bonnet, C. et al. Peripheral T-cell lymphoma with t(6;14)(p25;q11.2) translocation presenting with massive splenomegaly. Virchows Arch 464, 735–741 (2014). https://doi.org/10.1007/s00428-014-1560-3

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  • DOI: https://doi.org/10.1007/s00428-014-1560-3

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