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Review
. 2023 Jun 13;15(12):3175.
doi: 10.3390/cancers15123175.

Myelodysplastic Syndromes/Myeloproliferative Overlap Neoplasms and Differential Diagnosis in the WHO and ICC 2022 Era: A Focused Review

Diletta Fontana  1 , Elena M Elli  2 , Fabio Pagni  3 , Rocco Piazza  1   2
Affiliations
Review

Myelodysplastic Syndromes/Myeloproliferative Overlap Neoplasms and Differential Diagnosis in the WHO and ICC 2022 Era: A Focused Review

Diletta Fontana et al. Cancers (Basel). .

Abstract

The myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) category comprises a varied group of myeloid neoplastic diseases characterized by clinical and pathologic overlapping features of both myelodysplastic and myeloproliferative neoplasms. For these reasons, these tumors are challenging in terms of diagnosis. The recent World Health Organization (WHO) 2022 classification and the International Consensus Classification (ICC) made changes in the classification of MDS/MPN compared to the previous 2016 WHO classification and improved the diagnostic criteria of these entities. The aim of this review is to describe the main entities reported in the more recent classifications, focusing on chronic myelomonocytic leukemia (CMML), MDS/MPN with neutrophilia (or atypical CML [aCML]), and MDS/MPN with SF3B1 mutation and thrombocytosis/MDS/MPN with ring sideroblasts and thrombocytosis. A particular emphasis is given to the differential diagnosis and analysis of subtle divergences and semantic differences between the WHO classification and the ICC for these entities.

Keywords: CMML; ICC; MDS/MPN; SF3B1 mutation; WHO 2022; aCML; myelodysplastic/myeloproliferative neoplasm; myelodysplastic/myeloproliferative neoplasm with neutrophilia; ring sideroblasts; thrombocytosis.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Chronic myelomonocytic leukemia. (A) H&E staining (20×) multilineage dysplasia with irregular megakaryocytes characterized by hypolobulated and hyperchromatic nuclei. (B) A predominant monocyte differentiation is highlighted by CD68 pgm1 immunohistochemical staining (20×). (C) At silver staining (20×) large bands of extensive fibrosis (MF2, WHO score 2018).
Figure 2
Figure 2
MDS/MPN with neutrophilia. (A) At H&E (20×), a mildly hypercellular bone marrow shows minimal megakaryocytes dysplasia. No significant prevalence of immature cells in the other lines. (B) H&E at 40×. (C) Silver staining demonstrates a mild increase of the reticular fibers (MF1, WHO score 2018).
Figure 3
Figure 3
MDS/MPN with SF3B1 mutation and thrombocytosis. (A–C) At H&E ((A): 20×; (B): 40×), moderate multilineage dysplasia with significant dyserythropoiesis and megalbostastosis, as demonstrated by the glycophorin staining (C). (D) At MGG, other dysplastic findings in the erythroid series, which correspond to Perls’ positive ring sideroblasts at bone marrow aspirate.
See this image and copyright information in PMC

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