Pediatric Neoplasms Presenting with Monocytosis

Greenmyer, Jacob R.; Kohorst, Mira A.

doi:10.1007/s11899-021-00611-x

Cited by 1 publication

(1 citation statement)

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“…Thus, the combination of young age, hepato-splenomegaly, appearance of myeloid and erythroid precursors in the PB, and/or elevated levels of fetal hemoglobin should alert the clinicians to suspect JMML and initiate specific tests. These generally include the molecular analysis of driver mutations in the PTPN11, K-RAS, N-RAS , and CBL genes, and the search for features of neurofibromatosis type 1 (NF1) including family history, 9 in addition to the contemporary exclusion of the BCR-ABL transcript. Monosomy 7 is the most frequent cytogenetic aberration found in ~25% of JMML patients.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic profiling of CD34<sup>+</sup> cells by advanced flow cytometry improves diagnosis of juvenile myelomonocytic leukemia

Bugarin¹,

Antolini

Buracchi³

et al. 2023

haematol

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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.

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Section: Introductionmentioning

confidence: 99%