A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features

Ferrone, Christina K.; McNaughton, Amy J. M.; Rashedi, Iran; Ring, Brooke; Buckstein, Rena; Tsui, Hubert; Rauh, Michael J.

doi:10.1016/j.modpat.2022.100068

Modern Pathology

2023

DOI: 10.1016/j.modpat.2022.100068

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A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features

Christina K. Ferrone¹,

Amy J. M. McNaughton²,

Iran Rashedi³

et al.

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2024

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Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

Hoermann,

Khoury

2024

Histopathology

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Myeloid neoplasms include myeloproliferative and myelodysplastic neoplasms and acute myeloid leukaemia. Historically, these diseases have been diagnosed based on clinicopathological features with sometimes arbitrary thresholds that have persisted even as molecular features were gradually incorporated into their classification. As such, although current diagnostic approaches can classify the majority of myeloid neoplasms accurately using a combination of molecular and clinicopathological features, some areas of overlap persist and occasionally pose diagnostic challenges. These include overlap across BCR::ABL1‐negative myeloproliferative neoplasms; between clonal cytopenia of undetermined significance and myelodysplastic neoplasms; myelodysplastic/myeloproliferative neoplasms; and, detection of KIT mutations in myeloid neoplasms other than mastocytosis, raising the prospect of systemic mastocytosis. Molecular testing has become state of the art in the diagnostic work‐up of myeloid neoplasms, and molecular patterns can inherently help to classify overlapping entities if considered within a framework of haematological presentations. For future development, molecular testing will likely include whole genome and transcriptome sequencing, and primarily molecular classifications of myeloid neoplasms have already been suggested. As such, genetically defined groups should still constitute the basis for our understanding of disease development from early onset to progression, while clinicopathological features could then be used to describe the stage of the disease rather than the specific type of myeloid neoplasm.

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Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

Hoermann,

Khoury

2024

Histopathology

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A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features

Cited by 1 publication

References 27 publications

Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

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