Clinical and Molecular Approach to Adult-Onset, Neoplastic Monocytosis

Shallis, Rory M.; Siddon, Alexa J.

doi:10.1007/s11899-021-00632-6

Cited by 1 publication

(1 citation statement)

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“…The most common of the MDS/MPNs, CMML is defined as a myeloid stem cell neoplasm characterized by presence of greater than 1000 monocytes/μl in the peripheral blood (PB), with monocytes comprising at least 10% of PB white blood cells (WBCs), evidence of dysplasia in at least one lineage, and less than 20% blasts [ 1 ]. Monocyte partitioning by flow cytometry may distinguish reactive from classical monocytes and aid in diagnosis [ 5 ]. It is often diagnosed incidentally or in the context of cytopenias or antecedent autoimmune illness [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Examining disease boundaries: Genetics of myelodysplastic/myeloproliferative neoplasms

Savani

Jain

2021

eJHaem

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Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are clonal myeloid malignancies that are characterized by dysplasia resulting in cytopenias as well as proliferative features such as thrombocytosis or splenomegaly. Recent studies have better defined the genetics underlying this diverse group of disorders. Trisomy 8, monosomy 7, and loss of Y chromosome are the most common cytogenetic abnormalities seen. Chronic myelomonocytic leukemia (CMML) likely develops from early clones with TET2 mutations that drive granulomonocytic differentiation. Mutations in SRSF2 are common and those in the RAS‐MAPK pathway are typically implicated in disease with a proliferative phenotype. Several prognostic systems have incorporated genetic features, with ASXL1 most consistently demonstrating worse prognosis. Atypical chronic myeloid leukemia (aCML) is most known for granulocytosis with marked dysplasia and often harbors ASXL1 mutations, but SETBP1 and ETNK1 are more specific to this disease. MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN‐RS‐T) most commonly involves spliceosome mutations (namely SF3B1) and mutations in the JAK‐STAT pathway. Finally, MDS/MPN‐unclassifiable (MDS/MPN‐U) is least characterized but a significant fraction carries mutations in TP53. The remaining patients have clinical and/or genetic features similar to the other MDS/MPNs, suggesting there is room to better characterize this entity. Evolution from age‐related clonal hematopoiesis to MDS/MPN likely depends on the order of mutation acquisition and interactions between various biologic factors. Genetics will continue to play a critical role in our understanding of these illnesses and advancing patient care.

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