Top

Published in:

Open Access 01-09-2016 | Case Report

Transformation of CLL to ALCL: the role of clonality studies in diagnostic molecular haematopathology

Authors: Richard Colling, Daniel Royston, Elizabeth Soilleux

Published in: Journal of Hematopathology | Issue 3/2016

Abstract

Clonality studies greatly assist in the diagnosis of challenging haematopathology cases. These robust and standardised tests aid the detection of clonal lymphoid populations and may assist in lymphocyte subtyping. In this case report, a gentleman presented with a high-grade transformation of a B cell neoplasm which histologically and immunophenotypically mimicked a T cell anaplastic large-cell lymphoma. With the aid of T cell and B cell receptor clonality studies, it was demonstrated that this tumour was in fact of B cell lineage. This report exemplifies the role of these increasingly used and relatively new molecular tests in unusual and difficult lymphoma presentations and highlights potential pitfalls in the interpretation of their results.

Langerak AW et al (2012) EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations. Leukemia 26(10):2159–71CrossRefPubMedPubMedCentral

Gazzola A et al (2014) The evolution of clonality testing in the diagnosis and monitoring of hematological malignancies. Ther Adv Hematol 5(2):35–47CrossRefPubMedPubMedCentral

Schatz DG, Oettinger MA, Schlissel MS (1992) V(D)J recombination: molecular biology and regulation. Annu Rev Immunol 10:359–83CrossRefPubMed

Langerak AW et al (2007) Polymerase chain reaction-based clonality testing in tissue samples with reactive lymphoproliferations: usefulness and pitfalls. A report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia 21(2):222–9CrossRefPubMed

Swerdlow S et al (2008) WHO classification of tumours of haematopoietic and lymphoid tissues. IARC Press, Lyon

Invivoscribe Technologies Inc. CE-marked assays. [cited 2016, February 29th]; Available from: http://www.invivoscribe.com/ce-marked-assays2.

Stein H et al (2000) CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features. Blood 96(12):3681–95PubMed

Skinnider BF et al (1999) Anaplastic large cell lymphoma: a clinicopathologic analysis. Hematol Oncol 17(4):137–48CrossRefPubMed

Haralambieva E et al (2000) Anaplastic large-cell lymphomas of B-cell phenotype are anaplastic lymphoma kinase (ALK) negative and belong to the spectrum of diffuse large B-cell lymphomas. Br J Haematol 109(3):584–91CrossRefPubMed

10.

Jain P, O’Brien S (2012) Richter’s transformation in chronic lymphocytic leukemia. Oncology (Williston Park) 26(12):1146–52

11.

Reddy N, Thompson-Arildsen MA (2010) Hodgkin’s lymphoma: Richter’s transformation of chronic lymphocytic leukemia involving the liver. J Clin Oncol 28(29):e543–4CrossRefPubMed

12.

van den Berg A et al (2002) Clonal relation in a case of CLL, ALCL, and Hodgkin composite lymphoma. Blood 100(4):1425–9PubMed

13.

Rezuke WN, Abernathy EC, Tsongalis GJ (1997) Molecular diagnosis of B- and T-cell lymphomas: fundamental principles and clinical applications. Clin Chem 43(10):1814–23PubMed

14.

Assaf C et al (2000) High detection rate of T-cell receptor beta chain rearrangements in T-cell lymphoproliferations by family specific polymerase chain reaction in combination with the GeneScan technique and DNA sequencing. Blood 96(2):640–6PubMed

15.

Bruggemann M et al (2007) Powerful strategy for polymerase chain reaction-based clonality assessment in T-cell malignancies. Report of the BIOMED-2 Concerted Action BHM4 CT98-3936. Leukemia 21(2):215–21CrossRefPubMed

16.

Dik WA et al (2005) New insights on human T cell development by quantitative T cell receptor gene rearrangement studies and gene expression profiling. J Exp Med 201(11):1715–23CrossRefPubMedPubMedCentral

17.

Evans PA et al (2007) Significantly improved PCR-based clonality testing in B-cell malignancies by use of multiple immunoglobulin gene targets. Report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia 21(2):207–14CrossRefPubMed

18.

van Krieken JHJM et al (2006) Improved reliability of lymphoma diagnostics via PCR-based clonality testing: [mdash] Report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia 21(2):201–206CrossRefPubMed

19.

Biosciences, A. GeneScan® Analysis Software. [cited 2016, March 14th]; Available from: https://tools.thermofisher.com/content/sfs/brochures/cms_039770.pdf.

20.

van Krieken JH et al (2007) Improved reliability of lymphoma diagnostics via PCR-based clonality testing: report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia 21(2):201–6CrossRefPubMed

21.

Ferreri AJ et al (2013) Anaplastic large cell lymphoma, ALK-negative. Crit Rev Oncol Hematol 85(2):206–15CrossRefPubMed

22.

Jaffe ES (2001) Anaplastic large cell lymphoma: the shifting sands of diagnostic hematopathology. Mod Pathol 14(3):219–228CrossRefPubMed

23.

Leber BF et al (1989) T-cell receptor gene rearrangement in B-cell non-Hodgkin’s lymphoma: correlation with methylation and expression. Leuk Res 13(6):473–81CrossRefPubMed

24.

Asou N et al (1989) Rearrangements of T-cell antigen receptor delta chain gene in hematologic neoplasms. Blood 74(8):2707–12PubMed

25.

Griesser DH (1995) Analyses of the rearrangement of T-cell receptor- and immunoglobulin genes in the diagnosis of lymphoproliferative disorders. Veroff Pathol 144:1–109PubMed

26.

Li H et al (2003) Identification of oligoclonal CD4 T cells in diffuse large B cell lymphomas. Clin Immunol 107(3):160–9CrossRefPubMed

27.

Friedman DF, Cho EA, Goldman J, Carmack CE, Besa EC, Hardy RR, Silberstein LE (1991) The role of clonal selection in the pathogenesis of an autoreactive human B cell lymphoma. J Exp Med 174(3):525–37CrossRefPubMed

28.

Groenen P et al (2008) Pitfalls in TCR gene clonality testing: teaching cases. J Hematop 1(2):97–109CrossRefPubMedPubMedCentral

Title: Transformation of CLL to ALCL: the role of clonality studies in diagnostic molecular haematopathology
Authors: Richard Colling
Daniel Royston
Elizabeth Soilleux
Publication date: 01-09-2016
Publisher: Springer Berlin Heidelberg
Published in: Journal of Hematopathology / Issue 3/2016
Print ISSN: 1868-9256
Electronic ISSN: 1865-5785
DOI: https://doi.org/10.1007/s12308-016-0280-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Transformation of CLL to ALCL: the role of clonality studies in diagnostic molecular haematopathology

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2016

Rosai-Dorfman disease of the lung with features of obliterative arteritis

Langerhans cell histiocytosis shows distinct cytoplasmic expression of major histocompatibility class II antigens

An unusual case of CD5 negative Mantle cell lymphoma presenting with IgM monoclonal gammopathy

Secondary B-cell lymphoma associated with the Epstein-Barr virus in chronic lymphocytic leukemia patients

Overt leukemic phase: an unusual presentation of angioimmunoblastic lymphoma

New developments in the pathology of malignant lymphoma: a review of the literature published from June–August 2016