Leukemia research · 2025
Genomic profiles of myelodysplastic neoplasm with bone marrow eosinophilia or basophilia: Inflammatory drivers and DNA damage response.
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Jung Yujin, Kim Su Sung, Park Sooyong, Jeong Dajeong, Gu Ja-Yoon, Lee Jee-Soo, Kim Seon Young, Chang Yoon Hwan, Seong Moon-Woo, Yun Hongseok, Kim Hyun Kyung
Аннотация
BACKGROUND: Myelodysplastic neoplasms (MDS) are occasionally accompanied by bone marrow (BM) eosinophilia or basophilia. This study investigated molecular and cytogenetic characteristics and clinical implications of MDS with BM eosinophilia or basophilia as well as their prevalence.
METHODS: A total of 464 MDS patients were evaluated for prevalence of BM eosinophilia or basophilia. A total of 74 MDS patients were included in the next-generation sequencing (NGS) testing, which was conducted on 90 candidate genes frequently found in hematologic malignancies. Fourteen patients exhibited BM eosinophilia (MDS-EOS), six patients displayed BM basophilia (MDS-BASO), fifty-five patients did not demonstrate eosinophilia or basophilia (MDS-/-), and only one satisfied both MDS-EOS and MDS-BASO. Cytogenetic abnormalities and overall survival were also investigated.
RESULTS: MDS with BM eosinophilia or basophilia were observed in 7.33 % or 4.09 % of patients, respectively. MDS-EOS revealed significantly higher frequencies of mutations in ATM, TP53, CEBPA, FLT3 and DNA damage response (DDR) genes (ATM, PPM1D and TP53 combined). In MDS-BASO, significantly higher frequencies of mutations in ASXL1 and U2AF1 were shown. Variant allele frequency of DDR gene mutations significantly correlated with increased BM eosinophil fraction. Significant frequency of complex chromosomal abnormalities, especially involving chromosomes 5 and 7, was found in both MDS-EOS and MDS-BASO. MDS-EOS demonstrated significantly poorer survival rates than MDS-/-.
CONCLUSION: BM eosinophilia or basophilia was not uncommon. MDS with BM eosinophilia exhibited distinct mutational profiles including DDR genes mutations, which may attribute to adverse clinical outcomes. Identification of these subtypes can aid in prognosis and potentially guide targeted therapeutic approaches.
METHODS: A total of 464 MDS patients were evaluated for prevalence of BM eosinophilia or basophilia. A total of 74 MDS patients were included in the next-generation sequencing (NGS) testing, which was conducted on 90 candidate genes frequently found in hematologic malignancies. Fourteen patients exhibited BM eosinophilia (MDS-EOS), six patients displayed BM basophilia (MDS-BASO), fifty-five patients did not demonstrate eosinophilia or basophilia (MDS-/-), and only one satisfied both MDS-EOS and MDS-BASO. Cytogenetic abnormalities and overall survival were also investigated.
RESULTS: MDS with BM eosinophilia or basophilia were observed in 7.33 % or 4.09 % of patients, respectively. MDS-EOS revealed significantly higher frequencies of mutations in ATM, TP53, CEBPA, FLT3 and DNA damage response (DDR) genes (ATM, PPM1D and TP53 combined). In MDS-BASO, significantly higher frequencies of mutations in ASXL1 and U2AF1 were shown. Variant allele frequency of DDR gene mutations significantly correlated with increased BM eosinophil fraction. Significant frequency of complex chromosomal abnormalities, especially involving chromosomes 5 and 7, was found in both MDS-EOS and MDS-BASO. MDS-EOS demonstrated significantly poorer survival rates than MDS-/-.
CONCLUSION: BM eosinophilia or basophilia was not uncommon. MDS with BM eosinophilia exhibited distinct mutational profiles including DDR genes mutations, which may attribute to adverse clinical outcomes. Identification of these subtypes can aid in prognosis and potentially guide targeted therapeutic approaches.