Case Study

Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa

Katherine E. Hodkinson, Yvonne Perner, Deborah K. Glencross, Tracey Wiggill, Adam Botha, Janet Poole
African Journal of Laboratory Medicine | Vol 11, No 1 | a1355 | DOI: https://doi.org/10.4102/ajlm.v11i1.1355 | © 1970 Katherine Elizabeth Hodkinson, Yvonne Perner, Deborah Kim Glencross, Tracey Wiggill, Adam Both, Janet Poole | This work is licensed under CC Attribution 4.0
Submitted: 12 August 2020 | Published: 31 January 2022

About the author(s)

Katherine E. Hodkinson, Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa; and, National Health Laboratory Services, Johannesburg, South Africa
Yvonne Perner, National Health Laboratory Services, Johannesburg, South Africa; and, Department of Anatomical Pathology, University of the Witwatersrand, Johannesburg, South Africa
Deborah K. Glencross, National Health Laboratory Services, Johannesburg, South Africa; and, Department of Haematology and Molecular Medicine, University of the Witwatersrand, Johannesburg, South Africa
Tracey Wiggill, National Health Laboratory Services, Johannesburg, South Africa; and, Department of Haematology and Molecular Medicine, University of the Witwatersrand, Johannesburg, South Africa
Adam Botha, National Health Laboratory Services, Johannesburg, South Africa; and, Department of Anatomical Pathology, University of the Witwatersrand, Johannesburg, South Africa
Janet Poole, Department of Paediatric Oncology, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Paediatric Oncology, Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa


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Abstract

Introduction: A rare entity of a B-cell malignancy with precursor B-cell phenotype and concomitant translocation t(8;14) or variant MYC translocation exists. These cases show clinical, pathological and molecular overlap between precursor B-lymphoblastic leukaemia or lymphoma and Burkitt leukaemia or lymphoma (BLL).

Case presentation: We report a case from February 2019 at the Charlotte Maxeke Johannesburg Academic Hospital, South Africa, of a 9-month-old infant with a predominantly extracranial soft tissue mass showing extradural extension. There was no involvement of the peripheral blood or bone marrow. Fine needle aspiration and Tru-Cut biopsy of the soft tissue scalp mass showed the tumour to be of precursor B-cell phenotype. Contrastingly, an immunophenotypic assessment revealed a high S-phase fraction and raised concern for BLL. This prompted testing for the translocation t(8;14) by fluorescence in-situ hybridisation analysis, which confirmed this aberration.

Management and outcome: Based on the published experience of other centres, the patient was initiated on a BLL protocol. Despite an excellent clinical response, the patient succumbed to neutropenic sepsis six months after diagnosis.

Conclusion: Leukaemia or lymphoma with translocation t(8;14) or variant MYC translocation and precursor B-cell phenotype is a rare entity with a varied clinical presentation. This poses a challenge for diagnosis and classification and a clinical dilemma for the choice of treatment.


Keywords

Burkitt leukaemia/lymphoma; B-lymphoblastic leukaemia/lymphoma; translocation t(8;14); variant MYC translocations; S-phase fraction; terminal deoxynucleotidyl transferase (TdT); extranodal

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