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

doi:10.4102/ajlm.v11i1.1355

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

Afr J Lab Med. 2022 Jan 31;11(1):1355. doi: 10.4102/ajlm.v11i1.1355. eCollection 2022.

Authors

Katherine E Hodkinson^{1

2}, Yvonne Perner^{2

3}, Deborah K Glencross^{2

4}, Tracey Wiggill^{2

4}, Adam Botha^{2

3}, Janet Poole^{5

6}

Affiliations

¹ Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
² National Health Laboratory Services, Johannesburg, South Africa.
³ Department of Anatomical Pathology, University of the Witwatersrand, Johannesburg, South Africa.
⁴ Department of Haematology and Molecular Medicine, University of the Witwatersrand, Johannesburg, South Africa.
⁵ Department of Paediatric Oncology, University of the Witwatersrand, Johannesburg, South Africa.
⁶ Department of Paediatric Oncology, Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa.

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

Publication types

Case Reports