通过先进流式细胞术对CD34+细胞进行表型分析，可以提高儿童特发性骨髓单核细胞白血病的诊断准确性。
Phenotypic profiling of CD34+ cells by advanced flow cytometry improves diagnosis of Juvenile Myelomonocytic Leukemia.
发表日期：2023 Aug 03
作者：
Cristina Bugarin, Laura Antolini, Chiara Buracchi, Sergio Matarraz, Tiziana Angela Coliva, Vincent H Van der Velden, Tomasz Szczepanski, Elaine Sobral Da Costa, Alita Van der Sluijs, Michaela Novakova, Ester Mejstrikova, Stefan Nierkens, Fabiana Vieira De Mello, Paula Fernandez, Carmen Aanei, Łukasz Sędek, Luisa Strocchio, Riccardo Masetti, Laura Sainati, Jan Philippé, Maria Grazia Valsecchi, Franco Locatelli, Jacques J M Van Dongen, Andrea Biondi, Alberto Orfao, Giuseppe Gaipa
来源：
HAEMATOLOGICA
摘要：
目前，儿童骨髓网状内皮细胞白血病（JMML）的诊断标准已经明确，然而在一些患者中，诊断仍然是一个挑战。流式细胞术是一个被广泛应用于血液肿瘤诊断和随访的工具，然而在JMML诊断中并不常规使用。在本研究中，我们使用EuroFlow标准化抗体组合对收集自31名JMML患儿的CD34+造血前体细胞进行了表征，旨在评估其区分JMML细胞与正常/反应性骨髓细胞（对照组n=29）或其他与JMML类似的血液疾病患儿细胞（n=9）的能力。相比于对照组，JMML中的CD34+前体细胞在B细胞和红系分化前体细胞方面显示明显减少，而单核细胞和CD7+淋巴细胞前体细胞明显扩增。此外，在JMML的CD34+前体细胞中，异常的免疫表型始终存在，而在对照组中几乎不存在。多元逻辑回归分析显示，联合评估CD34+CD7+淋巴细胞前体细胞和CD34+异常前体细胞或红细胞前体细胞的数量，在区分JMML和对照组上具有巨大潜力。重要的是，我们的评分模型能够高效地区分真正的JMML和JMML样疾病患者。总之，我们首次展示了JMML患者中CD34+前体细胞具有独特的免疫表型特征，这可能有助于通过应用易于标准化的单一8色抗体组合在全球范围内快速准确地诊断JMML。
Diagnostic criteria for juvenile myelomonocytic leukemia (JMML) are currently well defined, however in some patients diagnosis still remains a challenge. Flow cytometry is a well-established tool for diagnosis and follow-up of hematological malignancies, nevertheless it is not routinely used for JMML diagnosis. Herewith, we characterized the CD34+ hematopoietic precursor cells collected from 31 children with JMML using a combination of standardized EuroFlow antibody panels to assess the ability to discriminate JMML cells from normal/reactive bone marrow cell as controls (n=29) or from cells of children with other hematological diseases mimicking JMML (n=9). CD34+ precursors in JMML showed markedly reduced B and erythroid-committed precursors compared to controls, whereas monocytic and CD7+ lymphoid precursors were significantly expanded. Moreover, aberrant immunophenotypes were consistently present in CD34+ precursors in JMML, while they were virtually absent in controls. Multivariate logistic regression analysis showed that combined assessment of the number of CD34+CD7+ lymphoid precursors and CD34+ aberrant precursors or erythroid precursors had a great potential in discriminating JMMLs vs controls. Importantly our scoring model allowed highly efficient discrimination of truly JMML vs patients with JMML-like diseases. In conclusion, we show for the first time that CD34+ precursors from JMML patients display a unique immunophenotypic profile which might contribute to a fast and accurate diagnosis of JMML worldwide by applying an easy to standardize single 8-color antibody combination.