1. Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa
- Author
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Katherine E. Hodkinson, Yvonne Perner, Deborah K. Glencross, Tracey Wiggill, Adam Botha, and Janet Poole
- Subjects
burkitt leukaemia/lymphoma ,b-lymphoblastic leukaemia/lymphoma ,translocation t(8 ,14) ,variant myc translocations ,s-phase fraction ,terminal deoxynucleotidyl transferase (tdt) ,extranodal ,Public aspects of medicine ,RA1-1270 ,Medicine (General) ,R5-920 - 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.
- Published
- 2022
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