The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5‐azacytidine: Results from the Hellenic 5‐azacytidine registry

Diamantopoulos, Panagiotis; Koumbi, Dafni; Kotsianidis, Ιoannis; Pappa, Vasiliki; Symeonidis, Argiris; Galanopoulos, Athanasios; Zikos, Panagiotis; Papadaki, Helen Α.; Panayiotidis, Panayiotis; Dimou, Maria; Hatzimichael, Eleftheria; Vassilopoulos, George; Delimpasis, Susan; Mparmparousi, Despoina; Papageorgiou, Sotirios G.; Variami, Eleni; Kyrtsonis, Marie‐Christine; Megalakaki, Aikaterini; Kotsopoulou, Maria; Repousis, Panagiotis; Adamopoulos, Ioannis; Kontopidou, Flora; Christoulas, Dimitrios; Kourakli, Alexandra; Tsokanas, Dimitrios; Papoutselis, Menelaos; Kyriakakis, Georgios; Viniou, Nora‐Athina

doi:10.1002/cam4.2090

Cited by 6 publications

(3 citation statements)

References 16 publications

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“…Monosomy 17 predominantly appeared within the vCK population, but it had no effect on OS, which was different from the result in MK+ AML patients . This phenomenon was also found in the research by Diamantopoulos et al, which showed that although chromosome 17 abnormalities are often associated with poor prognosis, the results were confounded by the fact that abnormal 17 was also found in the CK context …”

Section: Discussionmentioning

confidence: 68%

TP53 mutations are associated with very complex karyotype and suggest poor prognosis in newly diagnosed myelodysplastic syndrome patients with monosomal karyotype

Ren

Wang

Zhang

et al. 2020

Asia-Pac J Clncl Oncology

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Aim:The aim of this study was to evaluate the clinical and molecular characteristics of myelodysplastic syndrome (MDS) patients with monosomal karyotype (MK).were included in the retrospective study. Seventy-three had complex karyotype (CK) and 46 had very CK (vCK, ≥ 5 abnormalities). Clinical information was collected, and a panel of 37 genes, on which mutations have been previously reported to be associated with MDS patients, was analyzed by next-generation sequencing. Genetic and biological features and their association with survival were evaluated.Results: Monosomy 5, 7, and 17 were the most frequent and mainly occurred in patients with vCK. While median overall survival (OS) for all patients was 12.8 months with 95% CI 9.1-16.5, patients with vCK had shorter OS (8.4 months with 95% CI 3.9-12.8) than those with non-vCK (16.1 months with 95% CI 11.5-20.8) (P = .02). At least one gene mutation was detected in 76 patients (95%), TP53 mutations were detected in 57 patients, and their median OS was significantly shorter than those without TP53 mutations (9.5 months with 95% CI 7.5-11.5 vs 26.1 months with 95% CI 8.0-44.2, P < .01). In 34 patients who received treatment with decitabine, 25 with TP53 mutations had higher overall response rate than those with wild-type TP53 (60% vs 22.2%, P = .03). However, OS was still significantly shorter in those with TP53 mutations (10.1 vs 26.1 months, P = .03). Multivariate analysis confirmed that TP53 mutations was an independent poor prognostic factor on OS.Conclusions: CK and vCK overlap in most of the MDS patients with MK. TP53 mutations occur more frequently in MDS patients with vCK, and both TP53 mutations and vCK are adverse prognostic factors.

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Section: Discussionmentioning

confidence: 68%

TP53 mutations are associated with very complex karyotype and suggest poor prognosis in newly diagnosed myelodysplastic syndrome patients with monosomal karyotype

Ren

Wang

Zhang

et al. 2020

Asia-Pac J Clncl Oncology

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“…The association between a poor prognosis and a chromosome 17 abnormality in patients has also been found in the context of a complex karyotype. This was also correlated with the loss of 17.13.1, which contains the genetic loci of the tumor suppressor gene p53 ( TP53 ) [ 65 ]. The significance of this cytogenetic aberration has been valuable in MDS and AML with TP53 mutations, due to its favorable response to hypomethylating agents (HMA), particularly decitabine [ 66 ].…”

Section: Cytogeneticsmentioning

confidence: 99%

Myelodysplastic Syndrome: Diagnosis and Screening

2022

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Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of progression to acute myeloid leukemia (AML). In the past several years, diagnostic, prognostic, and therapeutic approaches have substantially improved with the development of Next Generation Sequencing (NGS) diagnostic testing and new medications. However, there is no single diagnostic parameter specific for MDS, and correlations with clinical information, and laboratory test findings are needed to reach the diagnosis.

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“… 34 Myeloid neoplasms with isolated isochromosome 17q represent a distinct clinicopathologic entity with myelodysplastic and myeloproliferative features, high risk of leukemic transformation, and wild-type TP53. 34 The Hellenic 5-azacytidine registry 35 of 548 adult patients with MDS treated with 5-azacytidine reports 32 patients with a chromosome 17 abnormality (6 with i[17q], 15 with −17, 3 with add[17p] and the rest with other rarer abnormalities, mostly translocations). The presence of a chromosome 17 abnormality was associated with poor prognostic features (high IPSS, IPSS-R, and WPSS scores) and a low overall survival rate (15.7 vs. 36.4 months for patients without chromosome 17 abnormalities.…”

Section: Chromosome 17 Abnormalitiesmentioning

confidence: 99%

De Novo and Therapy-Related Myelodysplastic Syndromes: Analogies and Differences

Leone¹,

Fabiani²,

Voso

2022

Mediterr J Hematol Infect Dis

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The aim of our review has been to give an appropriate idea of analogies and differences between primitive MDS (p-MDS) and t-MDS throughout an accurate reviewing of English peer-reviewed literature focusing on clinical, cytogenetic, epigenetic, and somatic mutation features of these two groups of diseases. Therapy-related MDS (t-MDS) are classified by WHO together with therapy-related acute myeloid leukemia (t-AML) in the same group, named therapy-related myeloid neoplasm. However, in clinical practice, the diagnosis of t-MDS is made with the same criteria as for primitive MDS (p-MDS), and the only difference is a previous non-myeloid neoplasm. The prognosis and the consequent therapy can be established following the same criteria as for p-MDS, and the therapy is generally decided using the same criteria. We stress the possible difference in cytogenetics, mutations, and epigenetics to distinguish the two forms. Actually, there is no marker specific for t-MDS either in cytogenetics, epigenetics, or mutations; however, some alterations are also frequent in t-MDS and, in general, they induce a poorer prognosis. So, the high-risk forms in t-MDS are prevalent. The present literature data suggest classifying the t-MDS as a subgroup of MDS and introducing some parameters to evaluate the probability of previous therapy in inducing MDS. An important issue remains the patient’s fitness, which strongly influences the outcome. Keywords: MDS, t-MDS- Cytogenetics, Mutation, Epigenetics.

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The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5‐azacytidine: Results from the Hellenic 5‐azacytidine registry

Cited by 6 publications

References 16 publications

TP53 mutations are associated with very complex karyotype and suggest poor prognosis in newly diagnosed myelodysplastic syndrome patients with monosomal karyotype

TP53 mutations are associated with very complex karyotype and suggest poor prognosis in newly diagnosed myelodysplastic syndrome patients with monosomal karyotype

Myelodysplastic Syndrome: Diagnosis and Screening

De Novo and Therapy-Related Myelodysplastic Syndromes: Analogies and Differences

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