학술논문
Phenotypic profiling of CD34+ cells by advanced flow cytometry improves diagnosis of juvenile myelomonocytic leukemia
Document Type
article
Author
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
Source
Haematologica, Vol 109, Iss 2 (2023)
Subject
Language
English
ISSN
0390-6078
1592-8721
1592-8721
Abstract
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-cell 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 versus controls. Importantly our scoring model allowed highly efficient discrimination of truly JMML versus 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 eight-color antibody combination.