TY - JOUR
T1 - Phenotypic profiling of CD34
+ cells by advanced flow cytometry improves diagnosis of juvenile myelomonocytic leukemia.
AU - Bugarin, Cristina
AU - Antolini, Laura
AU - Buracchi, Chiara
AU - Matarraz, Sergio
AU - Coliva, Tiziana Angela
AU - Van der Velden, Vincent H
AU - Szczepanski, Tomasz
AU - Da Costa, Elaine Sobral
AU - Van der Sluijs, Alita
AU - Novakova, Michaela
AU - Mejstrikova, Ester
AU - Nierkens, Stefan
AU - De Mello, Fabiana Vieira
AU - Fernandez, Paula
AU - Aanei, Carmen
AU - Sędek, Łukasz
AU - Strocchio, Luisa
AU - Masetti, Riccardo
AU - Sainati, Laura
AU - Philippé, Jan
AU - Valsecchi, Maria Grazia
AU - Locatelli, Franco
AU - Van Dongen, Jacques J M
AU - Biondi, Andrea
AU - Orfao, Alberto
AU - Gaipa, Giuseppe
N1 - Publisher Copyright:
© 2024 Ferrata Storti Foundation. All rights reserved.
PY - 2024/2/1
Y1 - 2024/2/1
N2 - 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.
AB - 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.
KW - Antigens, CD34/genetics
KW - Child
KW - Flow Cytometry
KW - Humans
KW - Leukemia, Myelomonocytic, Juvenile/diagnosis
KW - Monocytes/pathology
UR - http://www.scopus.com/inward/record.url?scp=85184149466&partnerID=8YFLogxK
U2 - 10.3324/HAEMATOL.2023.282805
DO - 10.3324/HAEMATOL.2023.282805
M3 - Article
C2 - 37534527
SN - 0390-6078
VL - 109
SP - 521
EP - 532
JO - Haematologica
JF - Haematologica
IS - 2
ER -