检测到一名多发性骨髓瘤治疗后继发 B 细胞急性淋巴细胞白血病/淋巴瘤患者存在非典型 BCR::ABL1 融合。

Detection of an atypical BCR::ABL1 fusion in a patient with secondary B-cell acute lymphoblastic leukemia/lymphoma following multiple myeloma treatment.

机构信息

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

出版信息

Cancer Genet. 2023 Jun;274-275:30-32. doi: 10.1016/j.cancergen.2023.03.005. Epub 2023 Mar 20.

DOI:10.1016/j.cancergen.2023.03.005

PMID:36966724

Abstract

Secondary hematologic malignancies, such as B-cell acute lymphoblastic leukemia/lymphoma (B-ALL), have been reported following multiple myeloma. Tyrosine kinase inhibitors have improved clinical outcomes of patients with Philadelphia-positive (Ph+) B-ALL. Therefore, recognition of the Ph chromosome in B-ALL patients is important for both prognosis and therapies. We present a case of a secondary Ph+ B-ALL following multiple myeloma that highlights a BCR::ABL1 fusion by a gene fusion assay to reveal a cryptic Ph chromosome, which may otherwise be missed by conventional cytogenetics and typical interphase fluorescence in situ hybridization.

摘要

继发性血液系统恶性肿瘤，如 B 细胞急性淋巴细胞白血病/淋巴瘤（B-ALL），在多发性骨髓瘤之后已有报道。酪氨酸激酶抑制剂改善了费城染色体阳性（Ph+）B-ALL 患者的临床结局。因此，识别 B-ALL 患者的 Ph 染色体对于预后和治疗都很重要。我们报告了一例多发性骨髓瘤继发的 Ph+B-ALL 病例，该病例通过基因融合检测突出显示了 BCR::ABL1 融合，从而揭示了隐匿性 Ph 染色体，否则常规细胞遗传学和典型的间期荧光原位杂交可能会遗漏该染色体。