Evidence map›Paper›PMID 42842953›Full record

ArticleHematology, transfusion and cell therapy2026

Karyotypic complexity and mutated TP53 are associated with myeloid neoplasms with ring chromosomes.

Thaís Gonçalves Dos Santos, Mauren Fernanda Moller Dos Santos, Renata Kiyomi Kishimoto, Daniela Borri, Caroline Nunes Silveira, Susana Elaine Alves Rosa, Luiz Gustavo Ferreira Cortes, Paulo Campregher, Elvira Deolinda Rodrigues Pereira Velloso

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Article in Hematology, transfusion and cell therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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9 authors.

Thaís Gonçalves Dos SantosHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil. Electronic address: thais_santos66@hotmail.com.
Mauren Fernanda Moller Dos SantosHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Renata Kiyomi KishimotoHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Daniela BorriHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Caroline Nunes SilveiraHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Susana Elaine Alves RosaHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Luiz Gustavo Ferreira CortesHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Paulo CampregherHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Elvira Deolinda Rodrigues Pereira VellosoHospital Israelita Albert Einstein, Sao Paulo, SP, Brazil; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, SP, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThis study evaluated the prevalence of ring chromosomes, their association with TP53 alterations, and their prognostic impact in myeloid neoplasms.

methodsA retrospective analysis of 12,935 onco-hematological karyotypes from 2017-2022 identified 21 adult patients with myeloid neoplasms harboring ring chromosomes. Fluorescence in situ hybridization was used to assess TP53 deletions, while next-generation sequencing detected TP53 mutations.

resultsRing chromosomes were identified in 0.29% of the cases. The median patient age was 69 years and 67% were male. Acute myeloid leukemia and myelodysplastic neoplasms were the most frequent diagnoses. The median number of karyotypic abnormalities was nine (range: 1-28). Karyotypic complexity, TP53 deletions, mutations, and multi-hit alterations were observed in 81%, 19%, 78%, and 61% of the cases, respectively. ring chromosomes were most frequently derived from chromosomes 6 and 7. Median overall survival was 3.2 months. TP53 multi-hit alterations (Hazard ratio: 10.63; p-value = 0.001) and the number of karyotypic abnormalities (Hazard ratio: 1.06; p-value = 0.043) were significantly associated with increased mortality. Patients with very complex karyotypes had a 5.53-fold higher risk of death.

conclusionRing chromosomes are rare in myeloid neoplasms and are consistently associated with high karyotypic complexity and TP53 alterations. In this cohort, both TP53 alterations and karyotypic complexity emerged as independent prognostic factors and were strongly associated with an extremely poor prognosis.

Indexed as

CytogeneticsMyeloid neoplasmsPrognosisRing chromosomesTP53 gene

Identifiers

PMID42842953
PMCPMC13676010

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