Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa
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...
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| Format: | Article |
| Language: | English |
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AOSIS
2022-01-01
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| Series: | African Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://ajlmonline.org/index.php/ajlm/article/view/1355 |
| _version_ | 1811302461493739520 |
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| author | Katherine E. Hodkinson Yvonne Perner Deborah K. Glencross Tracey Wiggill Adam Botha Janet Poole |
| author_facet | Katherine E. Hodkinson Yvonne Perner Deborah K. Glencross Tracey Wiggill Adam Botha Janet Poole |
| author_sort | Katherine E. Hodkinson |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T07:28:31Z |
| format | Article |
| id | doaj.art-d6e0fd737ad94fedb726e7cd91449bf9 |
| institution | Directory Open Access Journal |
| issn | 2225-2002 2225-2010 |
| language | English |
| last_indexed | 2024-04-13T07:28:31Z |
| publishDate | 2022-01-01 |
| publisher | AOSIS |
| record_format | Article |
| series | African Journal of Laboratory Medicine |
| spelling | doaj.art-d6e0fd737ad94fedb726e7cd91449bf92022-12-22T02:56:25ZengAOSISAfrican Journal of Laboratory Medicine2225-20022225-20102022-01-01111e1e510.4102/ajlm.v11i1.1355351Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South AfricaKatherine E. Hodkinson0Yvonne Perner1Deborah K. Glencross2Tracey Wiggill3Adam Botha4Janet Poole5Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa; and, National Health Laboratory Services, JohannesburgNational Health Laboratory Services, Johannesburg, South Africa; and, Department of Anatomical Pathology, University of the Witwatersrand, JohannesburgNational Health Laboratory Services, Johannesburg, South Africa; and, Department of Haematology and Molecular Medicine, University of the Witwatersrand, JohannesburgNational Health Laboratory Services, Johannesburg, South Africa; and, Department of Haematology and Molecular Medicine, University of the Witwatersrand, JohannesburgNational Health Laboratory Services, Johannesburg, South Africa; and, Department of Anatomical Pathology, University of the Witwatersrand, JohannesburgDepartment of Paediatric Oncology, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Paediatric Oncology, Charlotte Maxeke Johannesburg Academic Hospital, JohannesburgIntroduction: 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.https://ajlmonline.org/index.php/ajlm/article/view/1355burkitt leukaemia/lymphomab-lymphoblastic leukaemia/lymphomatranslocation t(814)variant myc translocationss-phase fractionterminal deoxynucleotidyl transferase (tdt)extranodal |
| spellingShingle | Katherine E. Hodkinson Yvonne Perner Deborah K. Glencross Tracey Wiggill Adam Botha Janet Poole Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa African Journal of Laboratory Medicine burkitt leukaemia/lymphoma b-lymphoblastic leukaemia/lymphoma translocation t(8 14) variant myc translocations s-phase fraction terminal deoxynucleotidyl transferase (tdt) extranodal |
| title | Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa |
| title_full | Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa |
| title_fullStr | Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa |
| title_full_unstemmed | Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa |
| title_short | Extranodal presentation of a lymphoma with precursor B-cell phenotype and translocation t(8;14) in South Africa |
| title_sort | extranodal presentation of a lymphoma with precursor b cell phenotype and translocation t 8 14 in south africa |
| topic | burkitt leukaemia/lymphoma b-lymphoblastic leukaemia/lymphoma translocation t(8 14) variant myc translocations s-phase fraction terminal deoxynucleotidyl transferase (tdt) extranodal |
| url | https://ajlmonline.org/index.php/ajlm/article/view/1355 |
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