High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10;p10)

Zhang, Tiezhao; Xu, Yang; Pan, Jinlan; Li, H; Q, Wang; Wen, Liang; Wu, Dong; Sun, Aining; Chen, S

doi:10.1038/leu.2017.228

Cited by 11 publications

(36 citation statements)

References 13 publications

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“…In addition, TP53 mutations were only detected in -7/del(7q) patients and not found in patients with der(1;7) 20 . These data are interesting because some authors speculated that der(1;7)(q10;p10) represents a ‘karyotypic variant’ of 7(-7/7q-) 17, 18, 19, 20. However, Zhang et al also showed that these groups have a different mutational profile and that der(1;7)(q10;p10) is associated with a high frequency of mutations in RUNX1 20 .…”

Section: Discussionmentioning

confidence: 93%

“…These data are interesting because some authors speculated that der(1;7)(q10;p10) represents a ‘karyotypic variant’ of 7(-7/7q-) 17, 18, 19, 20. However, Zhang et al also showed that these groups have a different mutational profile and that der(1;7)(q10;p10) is associated with a high frequency of mutations in RUNX1 20 . Detailed characterization of cytogenetic findings and the genes affected by these abnormalities will further improve our knowledge of the cellular events that lead to MDS and enhance our understanding of complex biology and the dynamic nature of this disease 21 …”

Section: Discussionmentioning

confidence: 96%

“…Zhang et al performed target next-generation sequencing (NGS) on 22 MDS cases with der(1;7)(q10;p10) and 32 MDS patients with -7/del(7q) to better understand the somatic mutation spectrum of these entities 20 . The most frequently mutated genes were RUNX1 (40.9%) in der(1;7) and TP53 (28.1%) in -7/del(7q) patients 20 . In addition, TP53 mutations were only detected in -7/del(7q) patients and not found in patients with der(1;7) 20 .…”

Section: Discussionmentioning

confidence: 99%

“…The most frequently mutated genes were RUNX1 (40.9%) in der(1;7) and TP53 (28.1%) in -7/del(7q) patients 20 . In addition, TP53 mutations were only detected in -7/del(7q) patients and not found in patients with der(1;7) 20 . These data are interesting because some authors speculated that der(1;7)(q10;p10) represents a ‘karyotypic variant’ of 7(-7/7q-) 17, 18, 19, 20.…”

Section: Discussionmentioning

confidence: 99%

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Role of conventional cytogenetics in sequential karyotype analysis of myelodysplastic syndrome: a patient with der(1;7)(q10;p10)

França

Melo

Teixeira

et al. 2019

Hematology, Transfusion and Cell Therapy

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Role of conventional cytogenetics in sequential karyotype analysis of myelodysplastic syndrome: a patient with der(1;7)(q10;p10)

França

Melo

Teixeira

et al. 2019

Hematology, Transfusion and Cell Therapy

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“…Over the last 10 years, DNA sequencing technology has identified a landscape of mutated genes that may be associated with the pathogenesis and prognosis of MDS . Subsequent studies suggested the associations of certain mutations with specific CAs in MDS patients . For instance, RUNX1 , ASXL1 , and EZH2 with der(1;7)(q10;p10), and TP53 and ASXL1 with 5q syndrome.…”

Section: Introductionmentioning

confidence: 99%

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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The der(1;7)(q10;p10) defining a distinct profile from −7/del(7q) in myelodysplastic syndromes: A systematic review and meta‐analysis

Lang,

Luo,

Wang

et al. 2024

Cancer Medicine

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Background and ObjectiveMyelodysplastic syndromes (MDS) are myeloid neoplasms characterized by ineffective hematopoiesis due to stem cell abnormalities. Monosomy 7q aberrations are a common cytogenetic abnormality in MDS. Specifically, an unbalanced translocation der(1;7)(q10;p10) [der(1;7)] has been identified in MDS patients, which is a monosomy 7q aberration variant like −7/del(7q). However, knowledge of der(1;7)'s features remains limited. Existing studies have compared the clinical and genetic characteristics of der(1;7) to those of −7/del(7q) but yielded inconsistent findings. Accordingly, we conducted meta‐analyses comparing der(1;7) to −7/del(7q).MethodsPublications were searched from the following databases up to January 10, 2023: Pubmed, Web of Science, Embase, Cochrane, and ClinicalTrials.gov. Eligible studies were assessed for risks of bias. Relevant data were extracted from included studies and analyzed using random‐effects models. Publication bias was evaluated and sensitivity analyses were performed.ResultsThe comparative meta‐analyses included 405 MDS patients with der(1;7) from nine studies. The analysis revealed that der(1;7) was associated with a greater male preponderance (86.1% vs. 68.3%, Odds Ratios (ORs) 2.007, p < 0.01) than −7/del(7q), lower platelets counts compared to del(7q), higher hemoglobin levels than −7, lower absolute neutrophil counts, and higher percentage of patients with non‐excess blasts (66.9% vs. 41.3%, ORs 2.374, p = 0.01) in comparison with −7/del(7q). The der(1;7) existed more as a sole karyotype aberration (55.6% vs. 37.0%, ORs 2.902, p = 0.02), co‐occurred more often with +8 (22.7% vs. 4.2%, ORs 5.714, p = 0.04) whereas less −5/del(5q) (1.5% vs. 41.3%, ORs 0.040, p < 0.01) and complex karyotype (7.3% vs. 54.8%, OR 0.085, p < 0.01). The der(1;7) was associated with higher frequencies of RUNX1 (40.8% vs. 12.3%, ORs 4.764, p < 0.01), ETNK1 (28.1% vs. 2.5%, ORs 42.106, p < 0.01) and EZH2 (24.8% vs. 6.9%, ORs 3.767, p = 0.02) mutations, but less TP53 mutation (2.4% vs. 45.3%, ORs 0.043, p < 0.01). Moreover, der(1;7) patients had longer time to progression (Hazard Ratios (HRs) 0.331, p = 0.02), better overall survival (OS) than −7 patients (HRs 0.557, p < 0.01), but similar OS with del(7q) patients (HRs 0.837, p = 0.37).ConclusionThe findings revealed distinct clinical, cytogenetic, and molecular characteristics distinguishing der(1;7) from −7/del(7q), indicating der(1;7) defines a unique subtype within MDS with monosomy 7q. These findings support classifying der(1;7) as a separate MDS entity in future.

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High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10;p10)

Cited by 11 publications

References 13 publications

Role of conventional cytogenetics in sequential karyotype analysis of myelodysplastic syndrome: a patient with der(1;7)(q10;p10)

Role of conventional cytogenetics in sequential karyotype analysis of myelodysplastic syndrome: a patient with der(1;7)(q10;p10)

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

The der(1;7)(q10;p10) defining a distinct profile from −7/del(7q) in myelodysplastic syndromes: A systematic review and meta‐analysis

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