Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation

Itonaga, Hidehiro; Ishiyama, Ken; Aoki, Kazunari; Aoki, Jun; Ishikawa, Takayuki; Ohashi, Kazuteru; Fukuda, Takayuki; Ozawa, Yukiyasu; Ota, Shuichi; Uchida, Naoyuki; Eto, Tetsuya; Iwato, Koji; Ohno, Yuju; Takanashi, Minoko; Ichinohe, Tatsuo; Atsuta, Yoshiko; Miyazaki, Yasushi

doi:10.1038/s41409-019-0469-5

Cited by 9 publications

(10 citation statements)

References 63 publications

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“…Recent studies have suggested that der(1;7) patients with myeloid neoplasms may have a favorable prognosis. [14]. In our study, AML patients with der(1;7) had a better OS and LFS than those with -7/del(7q), a trend that was similar to previous studies on MDS patients with der(1;7).…”

Section: Discussionsupporting

confidence: 91%

“…Itonaga et al. reported that MDS patients with isolated der(1;7) had better transplant outcomes than those with isolated ‐7/del(7q), regardless of disease status [ 14 ]. In our study, AML patients with der(1;7) had a better OS and LFS than those with ‐7/del(7q), a trend that was similar to previous studies on MDS patients with der(1;7).…”

Section: Discussionmentioning

confidence: 99%

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Outcomes after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with der(1;7)(q10;p10)

Mizumaki

Ishiyama

Aoki³

et al. 2022

eJHaem

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The prognosis of acute myeloid leukemia (AML) patients with der(1;7)(q10;p10) who underwent allogeneic hematopoietic stem cell transplantation (allo-SCT) is unclear due to its rarity. We retrospectively analyzed 151 AML patients with der(1;7)(q10;p10) and compared the findings with those of 853 AML patients with monosomy 7 or chromosome 7q deletion (-7/del(7q)) using Japanese nationwide registry data.The der(1;7)(q10;p10) group showed significantly better transplant outcomes thanThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Outcomes after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with der(1;7)(q10;p10)

Mizumaki

Ishiyama

Aoki³

et al. 2022

eJHaem

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“…More relevant studies are needed to address differences in OS between sole der(1;7) and sole −7 in MDS. Considering the survival characteristics of −7 may be similar to those of −7/del(7q), as −7 accounted for around 80% of −7/del(7q), 43 we included another study finding that sole der(1;7) had significantly longer OS and relapse time after transplantation than sole −7/del(7q) 31 . Combining data from the three studies, both fixed and random‐effects models corroborate better prognosis for sole der(1;7) compared to sole −7.…”

Section: Discussionmentioning

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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“…Clinical data collected for analyses included patient age at transplantation, patient sex, disease subtype according to the FAB classification, cytogenetic risk classification according to International Prognostic Scoring System (IPSS), 23 the year of allo-HSCT, time from MDS diagnosis to transplantation, PS according to the Eastern Cooperative Oncology Group criteria at allo-HSCT, the type of donor source according to previous studies, [24][25][26][27][28] data at the last follow-up, and the date and cause of death. Conditioning regimens were classified as myeloablative (MAC) and reduced-intensity (RIC) according to the established criteria.…”

Section: Definitionsmentioning

confidence: 99%

“…The diagnosis and clinical grading of acute and chronic GVHD were performed according to standard criteria. 31,32 Due to missing data on IPSS components at allo-HSCT in TRUMP, the disease risk was stratified according to the FAB classification as previously reported 24,26,33,34 ; the early disease status group contained patients whose subtype remained as refractory anemia (RA) or RA with ring sideroblasts (RARS) from diagnosis to transplantation. Patients diagnosed with RAEB or RAEB-t at any time between diagnosis and transplantation were considered to be an advanced disease status.…”

Section: Definitionsmentioning

confidence: 99%

Outcome of therapy‐related myelodysplastic syndrome and oligoblastic acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation: A propensity score matched analysis

Itonaga

Kida

Hamamura

et al. 2022

Hematological Oncology

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Therapy‐related myelodysplastic syndromes (t‐MDS) are generally progressive and associated with poorer outcomes than de novo MDS (d‐MDS). To evaluate the outcome of allogeneic hematopoietic stem cell transplantation (allo‐HSCT) for t‐MDS, we conducted a propensity score matched‐pair analysis of patients with t‐MDS and d‐MDS using a nationwide database. A total of 178 patients with t‐MDS underwent allo‐HSCT between 2001 and 2018, and 178 out of 3123 patients with d‐MDS were selected. The probability of 3‐year overall survival rate was 40.0% and 50.0% in the t‐MDS and d‐MDS groups, respectively (p = 0.032). The 3‐year transplant‐related mortality was 30.9% and 19.0% in the t‐MDS and d‐MDS groups, respectively (p = 0.005). The 3‐year cumulative incidence of relapse was 32.8% and 33.0% in the t‐MDS and d‐MDS groups, respectively (p = 0.983). A multivariate analysis identified four adverse factors for overall survival in the t‐MDS group: age ≥ 55 years (hazard ratio [HR], 2.09; 95% CI, 1.11–3.94; p = 0.023), the poor cytogenetic risk group (HR, 2.19; 95% CI, 1.40–4.19; p = 0.019), performance status at allo‐HSCT 2–4 (HR, 2.14; 95% CI, 1.19–3.86; p = 0.011), and a shorter interval from diagnosis to transplantation (<8 months; HR, 1.61; 95% CI, 1.00–2.57; p = 0.048). The most frequent cause of transplant‐related death was the infectious complications (21.6%) in t‐MDS group and organ failure (12.5%) in d‐MDS group. In conclusion, allo‐HSCT potentially provides long‐term remission in patients with t‐MDS; however, further efforts to reduce transplant‐related death are needed.

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Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation

Abstract: Clinical impact of the loss of chromosome 7q on outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem cell transplantation

Cited by 9 publications

References 63 publications

Outcomes after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with der(1;7)(q10;p10)

Outcomes after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with der(1;7)(q10;p10)

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

Outcome of therapy‐related myelodysplastic syndrome and oligoblastic acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation: A propensity score matched analysis

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