Advertisement

Primary mediastinal large B cell lymphoma with coexisting aberrations of C-MYC and BCL-2: a case report and literature review

  • Yanyan Jiang
  • Wenbin Mo
  • Yuan Miao
  • Ying Liang
  • Yan Li
  • Rui ZhangEmail author
Case Report

Abstract

Primary mediastinal large B-cell lymphoma (PMLBCL) is an aggressive lymphoma characteristic with distinct clinical, morphologic, and immunophenotypic features. The rearrangements of C-MYC, BCL2 and/or BCL6 which are common in diffuse large B-cell lymphoma (DLBCL) are typically absent in PLMBCL. Here we proved a novel case of PMLBCL with concurrent rearrangements of C-MYC and BCL2. Histology showed typical pathomorphological features of PLMBCL. Fluorescent in situ hybridization (FISH) studies showed rearrangements of C-MYC and copy number variation (CNV) of BCL2 gene. It is not well known on the clinical significance of rearrangements of C-MYC and BCL2 genes in PMLBCL. The case gives evidence that cytogenetic testing is necessary for PMLBCLs to get precise clinical evaluation and appropriate treatment.

Keywords

Primary mediastinal large B-cell lymphoma Gene rearrangement Copy number variation C-MYC BCL2 

Notes

Funding

This work was supported by the National Natural Science Foundation of China (NSFC) (Grant number: 81600117). The FISH analysis in this study was supported by this funder. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of manuscript.

Compliance with ethical standards

Conflict of interest

All authors have no conflict of interest to report.

References

  1. 1.
    Addis BJ, Isaacson PG (1986) Large cell lymphoma of the mediastinum: a B-cell tumour of probable thymic origin. Histopathology 10:379–390CrossRefGoogle Scholar
  2. 2.
    Miller JB, Variakojis D, Bitran JD, Sweet DL, Kinzie JJ, Golomb HM, Ultmann JE (2015) Diffuse histiocytic lymphoma with sclerosis: a clinicopathologic entity frequently causing superior venacaval obstruction. Cancer 47:748–756CrossRefGoogle Scholar
  3. 3.
    Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (2008) WHO Classification of tumours of haematopoietic and lymphoid tissues: International Agency for Research on Cancer. WHO, LyonGoogle Scholar
  4. 4.
    Rosenwald A, Wright G, Leroy K, Yu X, Gaulard P, Gascoyne RD, Chan WC, Zhao T, Haioun C, Greiner TC (2003) Molecular diagnosis of primary mediastinal B cell lymphoma identifies a clinically favorable subgroup of diffuse large B cell lymphoma related to Hodgkin lymphoma. J Exp Med 198:851–862CrossRefGoogle Scholar
  5. 5.
    Perrone T, Frizzera G, Rosai J (1986) Mediastinal diffuse large-cell lymphoma with sclerosis. A clinicopathologic study of 60 cases. Am J Surg Pathol 10:176–191CrossRefGoogle Scholar
  6. 6.
    Savage KJ, Monti S, Kutok JL, Cattoretti G, Neuberg D, De LL, Kurtin P, Dal CP, Ladd C, Feuerhake F (2003) The molecular signature of mediastinal large B-cell lymphoma differs from that of other diffuse large B-cell lymphomas and shares features with classical Hodgkin lymphoma. Blood 102:3871–3879CrossRefGoogle Scholar
  7. 7.
    Hutchinson CB, Wang E (2011) Primary mediastinal (thymic) large B-cell lymphoma: a short review with brief discussion of mediastinal gray zone lymphoma. Arch Pathol Lab Med 135:394–398PubMedGoogle Scholar
  8. 8.
    Cazals-Hatem D, Lepage E, Brice P, Ferrant A, D'Agay MF, Baumelou E, Brière J, Blanc M, Gaulard P, Biron P (1996) Primary mediastinal large B-cell lymphoma. A clinicopathologic study of 141 cases compared with 916 nonmediastinal large B-cell lymphomas, a GELA ("Groupe d'Etude des Lymphomes de l'Adulte") study. Am J Surg Pathol 20:877–888CrossRefGoogle Scholar
  9. 9.
    Barth TF, Leithäuser F, Joos S, Bentz M, Möller P (2002) Mediastinal (thymic) large B-cell lymphoma: where do we stand? Lancet Oncol 3:229–234CrossRefGoogle Scholar
  10. 10.
    Johnson PW (2015) IV. Masses in the mediastinum: primary mediastinal lymphoma and intermediate types. Hematol Oncol 33:29–32CrossRefGoogle Scholar
  11. 11.
    Harris NL (2013) Shades of gray between large B-cell lymphomas and Hodgkin lymphomas: differential diagnosis and biological implications. Mod Pathol 26:S57–S70CrossRefGoogle Scholar
  12. 12.
    Win TT, Kamaludin Z, Husin A (2016) Primary mediastinal large B-cell lymphoma and its mimickers: a rare case report with literature review. Malays J Pathol 38:153–157PubMedGoogle Scholar
  13. 13.
    Sesques P, Johnson NA (2016) Approach to the diagnosis and treatment of high-grade B cell lymphomas with MYC and BCL2 and/or BCL6 rearrangements. Blood 129:280–288CrossRefGoogle Scholar
  14. 14.
    Joos S, Otañojoos MI, Ziegler S, Brüderlein S, Du MS, Bentz M, Möller P, Lichter P (1996) Primary mediastinal (thymic) B-cell lymphoma is characterized by gains of chromosomal material including 9p and amplification of the REL gene. Blood 87:1571–1578CrossRefGoogle Scholar
  15. 15.
    Dunphy CH, O'Malley DP, Liang C, Fodrie TY, Perkins SL, Kathleen KR (2008) Primary mediastinal B-cell lymphoma: detection of BCL2 gene rearrangements by PCR analysis and FISH. J Hematopathol 1:77–84CrossRefGoogle Scholar
  16. 16.
    David KL, Rodney M, Tripp SR, Glenn MJ, Perkins SL, Mohamed S (2015) Clinicopathologic evaluation of MYC expression in primary mediastinal (thymic) large B-cell lymphoma. Am J Clin Pathol 143:598–604CrossRefGoogle Scholar
  17. 17.
    Eva S, Marie J, Edita K, Vratislav S, Marcela M, Roman K (2006) Primary mediastinal (thymic) large B-cell lymphoma with a der(14)t(8;14)(q24;q32) and a translocation of MYC to the derivative chromosome 14 with a deleted IgH locus. Cancer Genet. Cytogen 170:158–162CrossRefGoogle Scholar
  18. 18.
    Scarpa A, Borgato L, Chilosi M, Capelli P, Menestrina F, Bonetti F, Zamboni G, Pizzolo G, Hirohashi S, Fiore-Donati L (1991) Evidence of c-myc gene abnormalities in mediastinal large B-cell lymphoma of young adult age. Blood 78:780–788CrossRefGoogle Scholar
  19. 19.
    Tsang P, Cesarman E, Chadburn A, Liu YF, Knowles DM (1996) Molecular characterization of primary mediastinal B cell lymphoma. Am J Pathol 148:2017–2025PubMedPubMedCentralGoogle Scholar
  20. 20.
    Scarpa A, Moore PS, Rigaud G, Inghirami G, Montresor M, Menegazzi M, Todeschini G, Menestrina F (2015) Molecular features of primary mediastinal B-cell lymphoma: involvement of p16(INK4A), p53 and c-myc. Br J Haematol 107:106–113CrossRefGoogle Scholar
  21. 21.
    Campuzano-Zuluaga G, Ortiz D, Peng JH, Francis IO, Fan YS, Barredo JC, Vega F, Chapman JR (2016) Primary mediastinal large B-cell lymphoma with translocations involving BCL6 and MYC (double-hit lymphoma). Am J Clin Pathol 145:710–716CrossRefGoogle Scholar
  22. 22.
    Iqbal J, Neppalli VT, Wright G, Dave BJ, Horsman DE, Rosenwald A, Lynch J, Hans CP, Weisenburger DD, Greiner TC, Gascoyne RD, Campo E, Ott G, Müller-Hermelink HK, Delabie J, Jaffe ES, Grogan TM, Connors JM, Vose JM, Armitage JO, Staudt LM, Chan WC (2006) BCL2 expression is a prognostic marker for the activated B-cell-like type of diffuse large B-cell lymphoma. J Clin Oncol 24:961–968CrossRefGoogle Scholar
  23. 23.
    Lenz G, Wright G, Dave SS, Xiao W, Powell J, Zhao H, Xu W, Tan B, Goldschmidt N, Iqbal J (2008) Stromal gene signatures in large-B-cell lymphomas. N Engl J Med 359:2313–2323CrossRefGoogle Scholar

Copyright information

© The Japanese Society for Clinical Molecular Morphology 2019

Authors and Affiliations

  • Yanyan Jiang
    • 1
  • Wenbin Mo
    • 1
  • Yuan Miao
    • 2
  • Ying Liang
    • 1
  • Yan Li
    • 1
  • Rui Zhang
    • 1
    Email author
  1. 1.Department of HematologyThe First Affiliated Hospital of China Medical UniversityShenyangPeople’s Republic of China
  2. 2.Department of PathologyThe First Affiliated Hospital and College of Basic Medical Sciences of China Medical UniversityShenyangPeople’s Republic of China

Personalised recommendations