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. 2022 Dec;27(1):765-771.
doi: 10.1080/16078454.2022.2094134.

Genetic mutations associated with blood count abnormalities in myeloid neoplasms

Chantana Polprasert  1   2 , Sunisa Kongkiatkamon  1   2 , Pimjai Niparuck  3 , Thanawat Rattanathammethee  4 , Kitsada Wudhikarn  1   2 , Suporn Chuncharunee  3 , Sirorat Kobbuaklee  1   2 , Amornchai Suksusut  1 , Theerin Lanamtieng  5 , Panisinee Lawasut  1   2 , Thiti Asawapanumas  1   2 , Udomsak Bunworasate  1   2 , Ponlapat Rojnuckarin  1   2
Affiliations
Free article

Genetic mutations associated with blood count abnormalities in myeloid neoplasms

Chantana Polprasert et al. Hematology. 2022 Dec.
Free article

Abstract

Introduction: Myelodysplastic syndromes (MDS) predominantly present with varying degrees of cytopenia, while myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) exhibit proliferative features. Genetic defects underlying different complete blood count (CBC) alterations remain to be defined.

Objective: We aimed to evaluate mutations and impacts on abnormal blood counts in MDS and MDS/MPN.

Method: MDS and MDS/MPN patients were recruited and sequenced by targeted next-generation sequencing. Clinical parameters, especially CBC, were evaluated for the association with genetic abnormalities and clinical outcomes.

Results: A total of 168 patients with myeloid neoplasms were recruited (92 cases of low-risk MDS, 57 cases of high-risk MDS and 19 cases of MDS/MPN). Compared to low-risk MDS and MDS/MPN, patients with high-risk MDS were presented with more severe neutropenia with 17.5% showing absolute neutrophil counts (ANC) lower than 0.5 × 109/L. Patients with MDS/MPN more commonly harboured mutations and had a higher number of mutations per case than low-risk MDS (94.7% vs. 56.5%; p < 0.001 and 3 vs. 1; p < 0.001, respectively). Patients with SF3B1 mutations showed lower haemoglobin levels than wild-type (7.9 vs. 8.4 g/dL, p = 0.02), but were associated with normal platelet counts (286 vs. 93 × 109/L; p < 0.001). Patients with U2AF1 mutations were associated with more severe leukopenia than wild-type (3 vs. 4.18 × 109/L; p = 0.02). KRAS mutations were associated with monocytosis (p < 0.001). Multivariate analysis revealed high-risk MDS, MDS/MPN, severe neutropenia (ANC < 0.5 × 109/L), and mutations in ASXL1 and SETBP1 were associated with inferior survival outcomes.

Conclusion: Certain mutations were related to more severe anaemia, lower white blood cell count or monocytosis in Asian MDS and MDS/MPN patients.

Keywords: Myelodysplastic syndromes; cytopenia; gene mutation; monocytosis; myelodysplastic syndromes/myeloproliferative neoplasms.

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