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Clinical and Molecular Approach to Adult-Onset, Neoplastic Monocytosis

  • Myelodysplastic Syndromes and MPN/MDS Overlap (M Patnaik, Section Editor)
  • Published:
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Abstract

Purpose of Review

In this review, we provide a comprehensive and contemporary understanding of malignant monocytosis and provide a framework by which the appropriate diagnosis with malignant monocytosis can be rendered.

Recent Findings

Increasing data support the use of molecular data to refine the diagnostic approach to persistent monocytosis. The absence of a TET2, SRSF2, or ASXL1 mutation has ≥ 90% negative predictive value for a diagnosis of CMML. These data may also reliably differentiate chronic myelomonocytic leukemia, the malignancy that is most associated with mature monocytosis, from several other diseases that can be associated with typically a lesser degree of monocytosis. These include acute myelomonocytic leukemia, acute myeloid leukemia with monocytic differentiation, myelodysplastic syndromes, and myeloproliferative neoplasms driven by BCR-ABL1, PDGFRA, PDGFRB, or FGFR1 rearrangements or PCM1-JAK2 fusions among other rarer aberrations. The combination of monocyte partitioning with molecular data in patients with persistent monocytosis may increase the predictive power for the ultimate development of CMM but has not been prospectively validated.

Summary

Many conditions, both benign and malignant, can be associated with an increase in mature circulating monocytes. After reasonably excluding a secondary or reactive monocytosis, there should be a concern for and investigation of malignant monocytosis, which includes hematopathologic review of blood and marrow tissues, flow cytometric analysis, and cytogenetic and molecular studies to arrive at an appropriate diagnosis.

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Authors and Affiliations

  1. Section of Hematology, Department of Internal Medicine, Yale University School of Medicine and Yale Cancer Center, 333 Cedar Street, PO Box 208028, New Haven, CT, 06520-8028, USA

    Rory M. Shallis & Amer M. Zeidan

  2. Departments of Laboratory Medicine & Pathology, Yale University, New Haven, CT, USA

    Alexa J. Siddon

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R.M.S. and A.M.Z. conceptualized and wrote the manuscript.

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Correspondence to Amer M. Zeidan.

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A.M.Z. received research funding (institutional) from Celgene, Acceleron, Abbvie, Otsuka, Pfizer, Medimmune/AstraZeneca, Boehringer-Ingelheim, Trovagene, Incyte, Takeda, and ADC Therapeutics. A.M.Z had a consultancy with and received honoraria from AbbVie, Otsuka, Pfizer, Celgene, Ariad, Incyte, Agios, Boehringer-Ingelheim, Novartis, Acceleron, Astellas, Daiichi Sankyo, Cardinal Health, Seattle Genetics, BeyondSpring, and Takeda. None of these relationships were related to the development of this manuscript. All other authors report no relevant disclosures/competing interests.

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Shallis, R.M., Siddon, A.J. & Zeidan, A.M. Clinical and Molecular Approach to Adult-Onset, Neoplastic Monocytosis. Curr Hematol Malig Rep 16, 276–285 (2021). https://doi.org/10.1007/s11899-021-00632-6

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