Department of Pathology and Laboratory Medicine, University of Tennessee Health Science Center, Memphis, Tennessee.
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Pediatr Blood Cancer. 2019 Jan;66(1):e27453. doi: 10.1002/pbc.27453. Epub 2018 Sep 25.
Recent data have demonstrated the high sensitivity and specificity of peripheral blood flow cytometry (PBFC) for the diagnosis of pediatric leukemia; however, diagnostically significant immunophenotypic discrepancies between PBFC and bone marrow (BM) evaluation, which result in different lineage assignment and treatment protocols, can rarely occur. Here, we sought to further characterize the performance of PBFC for pediatric leukemia and highlight the exceptions when PBFC can result in misdiagnosis.
An institutional database was searched between 2012 and 2016 for cases of acute leukemia with concurrent PBFC and BM evaluation. Immunophenotyping results from the peripheral blood and BM using four or eight color flow cytometry, as well as BM cytochemical staining and immunohistochemistry, were compared.
Two hundred ninety PBFC samples with concurrent BM evaluation were identified. Based on the final immunophenotypic classification, the cases were distributed as follows: 108 B-lymphoblastic leukemia (B-ALL), 57 T-lymphoblastic leukemia (T-ALL), 116 acute myeloid leukemia (AML), and 9 mixed-phenotype acute leukemia (MPAL). Among all cases, five had a diagnostically significant discrepancy between PBFC and BM evaluation. In three cases, the immunophenotype by PBFC was consistent with early T-cell precursor ALL (ETP-ALL), whereas BM evaluation demonstrated MPAL. Two cases were suspicious for acute megakaryoblastic leukemia (AMKL) and MPAL, T/myeloid by PBFC but were diagnosed as B-ALL and T-ALL in the BM.
Immunophenotypic classification by PBFC is accurate (>98%) in almost all cases of pediatric leukemia with the rare exceptions of suspected ETP-ALL, MPAL, and AMKL. These PBFC diagnoses should be confirmed with BM immunophenotyping.
最近的数据表明，外周血流式细胞术（PBFC）在儿科白血病的诊断中具有很高的灵敏度和特异性；然而，PBFC 与骨髓（BM）评估之间存在诊断上显著的免疫表型差异，这会导致不同的谱系分配和治疗方案，这种情况很少发生。在这里，我们试图进一步描述 PBFC 在儿科白血病中的性能，并强调 PBFC 可能导致误诊的例外情况。
在 2012 年至 2016 年期间，我们在一个机构数据库中搜索了同时进行 PBFC 和 BM 评估的急性白血病病例。比较了外周血和 BM 中使用四色或八色流式细胞术的免疫表型结果，以及 BM 细胞化学染色和免疫组织化学结果。
确定了 290 例同时进行 BM 评估的 PBFC 样本。根据最终的免疫表型分类，病例分布如下：108 例 B 淋巴细胞白血病（B-ALL）、57 例 T 淋巴细胞白血病（T-ALL）、116 例急性髓细胞白血病（AML）和 9 例混合表型急性白血病（MPAL）。在所有病例中，有 5 例 PBFC 和 BM 评估之间存在诊断上显著的差异。在 3 例中，PBFC 的免疫表型与早期 T 细胞前体 ALL（ETP-ALL）一致，而 BM 评估显示为 MPAL。2 例疑似急性巨核细胞白血病（AMKL）和 MPAL、T/髓系的 PBFC 但在 BM 中诊断为 B-ALL 和 T-ALL。
在儿科白血病的几乎所有病例中，PBFC 的免疫表型分类是准确的（>98%），只有少数疑似 ETP-ALL、MPAL 和 AMKL 的病例除外。这些 PBFC 诊断应通过 BM 免疫表型进行确认。
