Wang Yunzu Michele, Mo Jun Qin, Kuo Dennis John, Wong Victor
Department of Pediatric Hematology-Oncology, University of California San Diego, San Diego, California, USA.
Department of Pathology, University of California San Diego, San Diego, California, USA.
BMJ Case Rep. 2019 Feb 15;12(2):e227400. doi: 10.1136/bcr-2018-227400.
We describe an unusual case of pre-B lymphoblastic leukaemia presenting with a unilateral maxillary sinus mass in which biopsies of the primary mass and the bone marrow demonstrated conflicting immunophenotyping results. The extramedullary mass was consistent with a precursor B-cell malignancy, while the bone marrow was initially reported as a possible mature B-cell malignancy. The treatments for the two are fundamentally different, which necessitated a delay in the initiation of his chemotherapy until a clear diagnosis was made. Mixed lineage leukaemia gene rearrangement was confirmed by fluorescence in situ hybridisation in both the primary mass and bone marrow, which unified the diagnosis as pre-B acute lymphoblastic leukaemia given the common cytogenetic feature.
我们描述了一例罕见的前体B淋巴细胞白血病病例，该病例表现为单侧上颌窦肿块，其中原发肿块和骨髓活检显示出相互矛盾的免疫表型结果。髓外肿块符合前体B细胞恶性肿瘤，而骨髓最初报告可能为成熟B细胞恶性肿瘤。这两种疾病的治疗方法根本不同，这使得他的化疗开始时间推迟，直到做出明确诊断。通过荧光原位杂交在原发肿块和骨髓中均证实了混合谱系白血病基因重排，鉴于共同的细胞遗传学特征，统一诊断为前体B急性淋巴细胞白血病。
