der(1;7)(q10;p10)

Bruyère, Hélène

doi:10.4267/2042/66075

Cited by 2 publications

(3 citation statements)

References 11 publications

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“…9,45 It is a rare myeloid abnormality usually associated with Shwachman-Diamond syndrome. 46 The der(1;7)(q10;p10) frequently occurs with trisomy 8 in non-GATA2 MDS, 47 and it was present in 3 of 5 cases in our study and in a patient with GATA2 deficiency in another study. 45 It results in a 7q2 genotype, but its inclusion with monosomy 7 did not change survival probability.…”

Section: Discussionsupporting

confidence: 65%

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

et al. 2022

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GATA2 Deficiency patients harbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family members with the same mutation in GATA2. We investigated somatic mutations in 106 patients with GATA2 Deficiency to identify acquired mutations that are associated with myeloid malignancies. Myelodysplastic Syndrome (MDS) was the most common diagnosis (~44%), followed by GATA2 bone marrow immunodeficiency disorder (G2BMID) (~37%). Thirteen percent of the cohort had GATA2 mutations but displayed no disease manifestations. There were no correlations between patient age or sex with disease progression or survival. Cytogenetic analyses showed a high incidence of abnormalities (~43%)- notably trisomy 8 (~23%) and monosomy 7 (~12%), but these changes did not correlate with lower survival. Somatic mutations in ASXL1 and STAG2 were detected in ~25% of patients, though these mutations were rarely concomitant. Mutations in DNMT3A were found in ~10% of patients. These somatic mutations were found similarly in G2BMID and MDS, suggesting clonal hematopoiesis in early stages of disease, before the onset of MDS. ASXL1 mutations conferred a lower survival probability and were more prevalent in female patients. STAG2 mutations also conferred a lower survival probability, but did not show a statistically significant sex bias. There was a conspicuous absence of many commonly mutated genes associated with myeloid malignancies, including TET2, IDH1/2, and the splicing factor genes. Notably, somatic mutations in chromatin-related genes and cohesin genes characterized disease progression in GATA2 Deficiency

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Section: Discussionsupporting

confidence: 65%

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

et al. 2022

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“…The recently identified unbalanced translocation der(1;7)(q10;p10)[der(1;7)], a rare chromosomal abnormality seen in myeloid neoplasms, 6,7 involves fusion of the entire 1q arm to the 7p arm at the centromeric regions, resulting in monosomy 7q and 1q gain 8 . Studies find der(1;7) in 0.58%–2.59% of myelodysplastic syndrome (MDS) cases, 7,9,10 0.2%–2% of acute myeloid leukemia (AML) cases, and about 1% of myeloproliferative neoplasms (MPN) 11 . Most der(1;7) cases are MDS (58%), followed by AML (26%) and MPN (9%).…”

Section: Introductionmentioning

confidence: 99%

“… 8 Studies find der(1;7) in 0.58%–2.59% of myelodysplastic syndrome (MDS) cases, 7 , 9 , 10 0.2%–2% of acute myeloid leukemia (AML) cases, and about 1% of myeloproliferative neoplasms (MPN). 11 Most der(1;7) cases are MDS (58%), followed by AML (26%) and MPN (9%). Furthermore, 80% of AML with der(1;7) are secondary or have myelodysplasia.…”

Section: Introductionmentioning

confidence: 99%

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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der(1;7)(q10;p10)

Abstract: This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.

Cited by 2 publications

References 11 publications

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

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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