Hodkinson Katherine E, Perner Yvonne, Glencross Deborah K, Wiggill Tracey, Botha Adam, Poole Janet
Department of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
National Health Laboratory Services, Johannesburg, South Africa.
Afr J Lab Med. 2022 Jan 31;11(1):1355. doi: 10.4102/ajlm.v11i1.1355. eCollection 2022.
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).
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.
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.
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.
存在一种罕见的B细胞恶性肿瘤，具有前体B细胞表型并伴有t(8;14)易位或变异型MYC易位。这些病例在前体B淋巴细胞白血病或淋巴瘤与伯基特白血病或淋巴瘤（BLL）之间表现出临床、病理和分子方面的重叠。
我们报告一例2019年2月来自南非夏洛特·马克西克约翰内斯堡学术医院的病例，一名9个月大的婴儿，主要表现为颅外软组织肿块并伴有硬膜外扩展。外周血和骨髓未受累。对头皮软组织肿块进行细针穿刺抽吸和粗针活检显示肿瘤为前体B细胞表型。相反，免疫表型评估显示S期比例较高，引发了对BLL的担忧。这促使通过荧光原位杂交分析检测t(8;14)易位，结果证实了这种畸变。
根据其他中心已发表的经验，该患者开始采用BLL方案治疗。尽管临床反应良好，但患者在诊断后六个月死于中性粒细胞减少性败血症。
伴有t(8;14)易位或变异型MYC易位以及前体B细胞表型的白血病或淋巴瘤是一种罕见的实体，临床表现多样。这给诊断和分类带来了挑战，也给治疗选择带来了临床困境。
