Gestrich Catherine K, De Lancy Shanelle J, Kresak Adam, Meyerson Howard, Pateva Irina, Yalley Akua K, Ryder Christopher, Shetty Shashirekha, Bledsoe Jacob, Moore Erika M, Oduro Kwadwo A
Department of Pathology, University Hospitals Cleveland Medical Center, University Hospitals Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, Ohio, USA.
Division of Hematology and Oncology, Department of Pediatrics, University Hospitals Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, Ohio, USA.
Br J Haematol. 2024 Jan;204(1):229-239. doi: 10.1111/bjh.19142. Epub 2023 Oct 23.
Therapeutic management and prognostication for patients with B-acute lymphoblastic leukaemia (B-ALL) require appropriate disease subclassification. BCR::ABL1-like B-ALL is unique in that it is defined by a gene expression profile similar to BCR::ABL1+ B-ALL rather than a unifying recurrent translocation. Current molecular/cytogenetic techniques to identify this subtype are expensive, not widely accessible, have long turnaround times and/or require an adequate liquid biopsy. We have studied a total of 118 B-ALL cases from three institutions in two laboratories to identify surrogates for BCR::ABL1+/like B-ALL. We report that immunoglobulin joining chain (IGJ) and spermatogenesis associated serine-rich 2-like (SPATS2L) immunohistochemistry (IHC) sensitively and specifically identify BCR::ABL1+/like B-ALL. IGJ IHC positivity has a sensitivity of 83%, a specificity of 95%, a positive predictive value (PPV) of 89% and a negative predictive value (NPV) of 90%. SPATS2L staining has similar sensitivity and NPV but lower specificity (85%) and PPV (70%). The presence of either IGJ or SPATS2L staining augments the sensitivity (93%) and NPV (95%). While these findings would need to be validated in larger studies, they suggest that IGJ and/or SPATS2L IHC may be utilized in identifying BCR::ABL1-like B-ALL or in selecting B-ALL cases for confirmatory molecular/genetic testing, particularly in resource-limited settings.
B 急性淋巴细胞白血病（B-ALL）患者的治疗管理和预后评估需要进行适当的疾病亚分类。BCR::ABL1 样 B-ALL 的独特之处在于，它是由一种与 BCR::ABL1+ B-ALL 相似的基因表达谱定义的，而不是由统一的复发性易位定义。目前用于识别该亚型的分子/细胞遗传学技术昂贵、不易广泛获取、周转时间长且/或需要足够的液体活检。我们在两个实验室中研究了来自三个机构的总共 118 例 B-ALL 病例，以确定 BCR::ABL1+/样 B-ALL 的替代标志物。我们报告称，免疫球蛋白连接链（IGJ）和精子发生相关富含丝氨酸 2 样（SPATS2L）免疫组织化学（IHC）可敏感且特异地识别 BCR::ABL1+/样 B-ALL。IGJ IHC 阳性的敏感性为 83%，特异性为 95%，阳性预测值（PPV）为 89%，阴性预测值（NPV）为 90%。SPATS2L 染色具有相似的敏感性和 NPV，但特异性（85%）和 PPV（70%）较低。IGJ 或 SPATS2L 染色的存在提高了敏感性（93%）和 NPV（95%）。虽然这些发现需要在更大规模的研究中得到验证，但它们表明 IGJ 和/或 SPATS2L IHC 可用于识别 BCR::ABL1 样 B-ALL 或选择 B-ALL 病例进行确证性分子/基因检测，特别是在资源有限的环境中。
