Pediatric Blood & Cancer最新文献

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Alternative way to make good memories out of bad ones: Piercing placement during surgery in children with cancer 用另一种方式让糟糕的记忆变成美好的回忆癌症患儿手术期间的穿刺位置。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-16 DOI: 10.1002/pbc.31406
İdil Rana User, Burak Ardıçlı, Saniye Ekinci
{"title":"Alternative way to make good memories out of bad ones: Piercing placement during surgery in children with cancer","authors":"İdil Rana User, Burak Ardıçlı, Saniye Ekinci","doi":"10.1002/pbc.31406","DOIUrl":"10.1002/pbc.31406","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics of patients with liver tumors deemed ineligible for enrollment on Children's Oncology Group trial AHEP1531: An opportunity to expand inclusion criteria and improve outcome 被认为不符合儿童肿瘤学组 AHEP1531 试验入组条件的肝肿瘤患者的特征:扩大入组标准和改善疗效的机会。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-16 DOI: 10.1002/pbc.31389
Angela D. Trobaugh-Lotrario, Allison F. O'Neill, Katelyn A. Belmonte, Marcio H. Malogolowkin, Greg M. Tiao, James I. Geller
{"title":"Characteristics of patients with liver tumors deemed ineligible for enrollment on Children's Oncology Group trial AHEP1531: An opportunity to expand inclusion criteria and improve outcome","authors":"Angela D. Trobaugh-Lotrario,&nbsp;Allison F. O'Neill,&nbsp;Katelyn A. Belmonte,&nbsp;Marcio H. Malogolowkin,&nbsp;Greg M. Tiao,&nbsp;James I. Geller","doi":"10.1002/pbc.31389","DOIUrl":"10.1002/pbc.31389","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Specific patients with hepatoblastoma (HB) and hepatocellular carcinoma (HCC) do not meet eligibility criteria for Children's Oncology Group (COG) trials, limiting an understanding of how comorbidities affect the outcome. We define such a population for future-focused care improvements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A questionnaire was sent to COG institutional principal investigators to obtain anonymized data regarding patients with a liver tumor diagnosis not enrolled on AHEP1531 due to ineligibility by trial criteria or other reasons (excluding parent/patient preference).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Responses received for 55 patients (38 HB, 4 HCC, and 13 not reported) included 12 excluded from further analysis due to various factors, including lack of additional information. Five patients were eligible but not enrolled due to pandemic-related staffing issues (<i>n</i> = 1) or the best interest of the patient (physician preference, <i>n</i> = 1; risk for poor tolerance of chemotherapy, <i>n</i> = 1; not specified, <i>n</i> = 2). The remaining 38 patients included 1 ineligible due to a prior malignancy, 9 due to performance status, and 4 due to timing requirements. Thirty-five of 38 patients were ineligible due to organ function criteria (pulmonary/oxygen requirement, <i>n</i> = 25; renal, <i>n</i> = 10; liver, <i>n</i> = 4; cardiac, <i>n</i> = 3). Seven patients were ineligible due to two or more organ function criteria. Twenty-five of 38 patients were reported to have a preexisting condition including 4 patients with trisomy 18.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Patients with HB, and potentially HCC, who are ineligible for COG trials are primarily patients with an oxygen requirement and/or renal insufficiency, often associated with preexisting congenital conditions. Such patients would benefit from future studies to improve outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vomiting despite adherence to guidelines: Suboptimal control of vomiting in pediatric cancer patients 尽管遵守指南,仍有呕吐:儿科癌症患者呕吐控制不理想。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-16 DOI: 10.1002/pbc.31372
Rotem Fishel Ben-Kenan, Lily K. Stafford, M'hamed Temkit, Jamie Brown, Alexandra Walsh
{"title":"Vomiting despite adherence to guidelines: Suboptimal control of vomiting in pediatric cancer patients","authors":"Rotem Fishel Ben-Kenan,&nbsp;Lily K. Stafford,&nbsp;M'hamed Temkit,&nbsp;Jamie Brown,&nbsp;Alexandra Walsh","doi":"10.1002/pbc.31372","DOIUrl":"10.1002/pbc.31372","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Vomiting is a common and distressing acute side effect of chemotherapy, negatively impacting quality of life, nutritional status, and the ability of patients to tolerate further treatment. Standardized guidelines have been developed to improve control of nausea and vomiting. We aimed to determine the benefit of adherence to clinical practice guidelines (CPGs) on complete control of acute chemotherapy-induced vomiting in newly diagnosed pediatric patients with cancer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An electronic dashboard of pediatric patients newly diagnosed with cancer at Phoenix Children's Hospital between August 2019 and January 2021 and receiving their first cycle of chemotherapy was utilized to monitor chemotherapy regimen, antiemetic medications, and vomiting episodes. Blocks were classified as guideline-inconsistent, guideline-consistent, or guideline-consistent PLUS if additional prophylactic antiemetic medications were utilized. We identified patients with complete control of vomiting, defined as no vomiting and no additional antiemetics needed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 136 patients, 29% received guideline-inconsistent care, 37% received guideline-consistent care, and 34% received guideline-consistent PLUS care. Overall, 48% of patients achieved complete control of vomiting. Older patients (<i>p</i> &lt; 0.0001) and those receiving higher emetogenicity chemotherapy (<i>p</i> = 0.0003) were more likely to receive guideline-consistent or guideline-consistent PLUS therapy. With guideline-consistent and -consistent PLUS grouped together, the diagnosis was also associated with improved adherence to CPGs (<i>p</i> = 0.022). Multivariate analysis showed that patients more likely to receive guideline-consistent prophylaxis were of older age (OR 1.11, <i>p</i> = 0.016) and solid tumor patients (OR 5.59, <i>p</i> = 0.028).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Despite high rates of CPG adherence, complete control of vomiting remains suboptimal, which highlights the need for novel and/or risk-adapted therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Contemporary surgical management of osteosarcoma and Ewing sarcoma. 骨肉瘤和尤文肉瘤的当代外科治疗。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-15 DOI: 10.1002/pbc.31374
Alexandra K Callan, John H Alexander, Nicole I Montgomery, Antoinette W Lindberg, Thomas J Scharschmidt, Odion Binitie
{"title":"Contemporary surgical management of osteosarcoma and Ewing sarcoma.","authors":"Alexandra K Callan, John H Alexander, Nicole I Montgomery, Antoinette W Lindberg, Thomas J Scharschmidt, Odion Binitie","doi":"10.1002/pbc.31374","DOIUrl":"https://doi.org/10.1002/pbc.31374","url":null,"abstract":"<p><p>The incidence of malignant bone tumors has remained relatively stable over the past two decades between 8% and 9% per 1,000,000 in North America. Multidisciplinary treatment is paramount for optimal care combining surgical resection, chemotherapy, and rehabilitation. Surgical treatment aims for a negative margin resection of the sarcoma with a personalized reconstruction plan. Limb salvage surgery (LSS) is possible in the majority of cases; however, amputation (including rotationplasty) may be required or preferred. Reconstruction can be achieved utilizing endoprostheses, allograft, autograft, or a combination of these techniques. Emerging technologies such as 3D printing of implants and cutting guides, and intraoperative navigation have helped to improve options for LSS.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31374"},"PeriodicalIF":2.4,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Global health training opportunities during pediatric hematology/oncology fellowship: Results from a survey of program leaders 儿科血液学/肿瘤学研究期间的全球健康培训机会:对项目负责人的调查结果。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-15 DOI: 10.1002/pbc.31375
Paula R. Hornstein, Ayo S. Falade, Scott A. Triedman, Leslie E. Lehmann, Temidayo A. Fadelu
{"title":"Global health training opportunities during pediatric hematology/oncology fellowship: Results from a survey of program leaders","authors":"Paula R. Hornstein,&nbsp;Ayo S. Falade,&nbsp;Scott A. Triedman,&nbsp;Leslie E. Lehmann,&nbsp;Temidayo A. Fadelu","doi":"10.1002/pbc.31375","DOIUrl":"10.1002/pbc.31375","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is growing interest in global health (GH) among medical trainees in the United States. However, providing GH training opportunities at the fellowship level presents several challenges. Understanding of barriers and facilitators to implementing GH training is essential for addressing these challenges.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We developed a comprehensive survey of 65 Likert-scale multiple-choice and open-ended questions to assess perspectives of pediatric hematology/oncology fellowships leaders on GH training. The survey was electronically distributed to program leaders at all ACGME-accredited pediatric hematology/oncology fellowships programs, and data were summarized using descriptive analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 73 eligible programs, we had a 45.2% response rate with 27 complete and 6 partial responses. Respondents represented programs across the United States, including 19 (57.6%) affiliated with NCI-Designated Cancer Centers. Fourteen programs (43.8%) currently offer GH training opportunities, whereas 18 programs expressed interest in future opportunities (15, 83.3%) or plan to offer them soon (3, 16.7%). Major barriers identified include competing training priorities (23, 82.1%), lack of faculty mentors in the division (23, 82.1%), and lack of dedicated institutional funding (20, 71.4%). Key facilitators include the interest and initiative of current fellows (27, 96.4%), dedicated institutional funding (26, 92.8%), and having established international partnerships (26, 92.8%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The study reveals strong interest in GH training in pediatric hematology/oncology fellowships. Despite challenges such as competing priorities and a lack of mentors, significant facilitators include current fellows’ initiatives, dedicated funding, and established international partnerships. These insights can help shape future initiatives to incorporate GH into pediatric oncology/hematology fellowship training.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31375","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rationale for irradiation of persisting oligo-skeletal metastases to improve survival of metastatic neuroblastoma patients with a poor response to chemotherapy: A retrospective study 对化疗反应不佳的转移性神经母细胞瘤患者进行持续性少骨转移灶照射以提高生存率的理由:一项回顾性研究。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-14 DOI: 10.1002/pbc.31350
Lea Rossillon, Véronique Edeline, Laurentiu Agrigoroaie, Claudia Pasqualini, Pablo Berlanga, Stephanie Bolle, Christelle Dufour, Dominique Valteau-Couanet
{"title":"Rationale for irradiation of persisting oligo-skeletal metastases to improve survival of metastatic neuroblastoma patients with a poor response to chemotherapy: A retrospective study","authors":"Lea Rossillon,&nbsp;Véronique Edeline,&nbsp;Laurentiu Agrigoroaie,&nbsp;Claudia Pasqualini,&nbsp;Pablo Berlanga,&nbsp;Stephanie Bolle,&nbsp;Christelle Dufour,&nbsp;Dominique Valteau-Couanet","doi":"10.1002/pbc.31350","DOIUrl":"10.1002/pbc.31350","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Persistent metaiodobenzylguanidine (mIBG)-positive skeletal metastases post induction in high-risk neuroblastoma correlate with a poor outcome. The aim of this study was to investigate the potential rationale for a prospective randomized study evaluating the impact on event-free survival of the irradiation of residual oligo-skeletal metastases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Procedure</h3>\u0000 \u0000 <p>Patients over 1 year with a stage M neuroblastoma treated between 2000 and 2020 at Gustave Roussy were identified. Patients with a positive mIBG scan at diagnosis and persistent skeletal metastases after high-dose chemotherapy (HDC) were included. Data were retrospectively collected and mIBG scans reviewed by two nuclear medicine physicians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Persistent skeletal uptake after HDC was observed in 30/201 patients (15%). Four patients reached a complete response at the end of maintenance treatment and did not relapse (median follow-up [FU] 8 years [1.8–11.8]), while two patients had progressive disease during maintenance. Among the 24 patients with persistent skeletal uptakes at the end of treatment, seven had a persistent response (median FU 8.2 years [4–15.6]). Median SIOPEN (International Society of Paediatric Oncology European Neuroblastoma) scores post consolidation and at the end of treatment were, respectively, 2 [1–6] and 2 [0–4] for patients with persistent responses compared to 4 [1–28] and 2 [1–17] for patients with progressive diseases. Median SIOPEN score at progression was 34 [2–56].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our study underlines that only a minority of patients had persistent skeletal mIBG-positive scans after HDC. Recurrence mainly occurred in disease sites present at diagnosis that cleared with chemotherapy. On-therapy control of the disease is the main challenge. These results highlight the complexity of conducting a randomized study exploring this strategy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31350","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reflections on 20 years of the Wilms Africa project: Lessons learned and the way forward 非洲威姆斯项目 20 年的反思:经验教训与前进方向。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-13 DOI: 10.1002/pbc.31386
Trijn Israels, Eric Borgstein, Steve Kamiza, Brenda Mallon, Annelies M. C. Mavinkurve-Groothuis, Francine Kouya, Joyce Balagadde, Nickhill Bhakta, Lorna Awo Renner, André Ilbawi, Leo Masamba, Kathy Pritchard-Jones, Vivian Paintsil, George Chagaluka, Elizabeth Molyneux
{"title":"Reflections on 20 years of the Wilms Africa project: Lessons learned and the way forward","authors":"Trijn Israels,&nbsp;Eric Borgstein,&nbsp;Steve Kamiza,&nbsp;Brenda Mallon,&nbsp;Annelies M. C. Mavinkurve-Groothuis,&nbsp;Francine Kouya,&nbsp;Joyce Balagadde,&nbsp;Nickhill Bhakta,&nbsp;Lorna Awo Renner,&nbsp;André Ilbawi,&nbsp;Leo Masamba,&nbsp;Kathy Pritchard-Jones,&nbsp;Vivian Paintsil,&nbsp;George Chagaluka,&nbsp;Elizabeth Molyneux","doi":"10.1002/pbc.31386","DOIUrl":"10.1002/pbc.31386","url":null,"abstract":"<p>Wilms tumour (WT) is one of the common and curable childhood cancer types included in the Global Initiative for Childhood Cancer (GICC) to monitor progress. Local evidence is key to finding effective and sustainable solutions to local challenges to improve care and survival. Local evidence generated by the Wilms Africa project is summarised with recommendations for the future.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successful haploidentical allogeneic stem cell transplantation for a pediatric chronic neutrophilic leukemia 成功为一名小儿慢性中性粒细胞白血病患者进行了单倍体异基因干细胞移植。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-13 DOI: 10.1002/pbc.31390
Yanhui Luo, Ang Wei, Jie Zheng, Chenguang Jia, Jun Yang, Bin Wang, Yuanfang Jing, Jiafeng Yao, Maoquan Qin, Guanghua Zhu
{"title":"Successful haploidentical allogeneic stem cell transplantation for a pediatric chronic neutrophilic leukemia","authors":"Yanhui Luo,&nbsp;Ang Wei,&nbsp;Jie Zheng,&nbsp;Chenguang Jia,&nbsp;Jun Yang,&nbsp;Bin Wang,&nbsp;Yuanfang Jing,&nbsp;Jiafeng Yao,&nbsp;Maoquan Qin,&nbsp;Guanghua Zhu","doi":"10.1002/pbc.31390","DOIUrl":"10.1002/pbc.31390","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The cancer may be gone, but does the iron remain? 癌症可能消失了,但铁还在吗?
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-13 DOI: 10.1002/pbc.31380
Lawrence Wolfe
{"title":"The cancer may be gone, but does the iron remain?","authors":"Lawrence Wolfe","doi":"10.1002/pbc.31380","DOIUrl":"10.1002/pbc.31380","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes 大规模线粒体 DNA 缺失综合征患者的长期造血功能障碍。
IF 2.4 3区 医学
Pediatric Blood & Cancer Pub Date : 2024-10-13 DOI: 10.1002/pbc.31383
Noa Greenberg-Kushnir, Liron D. Grossmann, Assaf Arie Barg, Ginnete Schiby, Corine Mardoukh, Nira Varda-Bloom, Victoria Marcu-Malina, Yair Anikster, Noah Gruber, Einat Lahav, Yoav Bolkier, Diana Bar, Bella Bielorai, Amos Toren, Elad Jacoby
{"title":"Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes","authors":"Noa Greenberg-Kushnir,&nbsp;Liron D. Grossmann,&nbsp;Assaf Arie Barg,&nbsp;Ginnete Schiby,&nbsp;Corine Mardoukh,&nbsp;Nira Varda-Bloom,&nbsp;Victoria Marcu-Malina,&nbsp;Yair Anikster,&nbsp;Noah Gruber,&nbsp;Einat Lahav,&nbsp;Yoav Bolkier,&nbsp;Diana Bar,&nbsp;Bella Bielorai,&nbsp;Amos Toren,&nbsp;Elad Jacoby","doi":"10.1002/pbc.31383","DOIUrl":"10.1002/pbc.31383","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pearson syndrome (PS) and Kearns-Sayre syndrome (KSS) are single large-scale mitochondrial DNA deletion (SLSMD) syndromes. PS is characterized by severe, transient childhood cytopenia, whereas KSS typically manifests later in life without hematologic abnormalities. Despite distinct clinical presentations, both share a common mitochondrial DNA deletion. Recent observations suggest a potential link between PS progression and myeloid malignancy development, indicating that bone marrow failure (BMF) may be a key aspect of PS pathology and potentially universal across SLSMDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study explores longitudinal hematological manifestations of SLSMD syndromes, focusing on bone marrow (BM) dysfunction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sixteen patients with SLSMDs (13 PS and 3 KSS) were followed, of whom 75% experienced cytopenia, necessitating blood transfusions in 56%. Despite achieving transfusion independence at a median age of 24 months, persistent hematological abnormalities were noted. Comprehensive longitudinal BM studies were conducted in 62% of subjects and consistently revealed signs of marrow dysfunction, even without concurrent cytopenia. Median BM cellularity at a median age of four years and eight months was 50%, with histological signs of dyserythropoiesis, abnormal megakaryocytes, and signs suggesting myelodysplasia. Reduced CD34<sup>+</sup> counts and BM colony-forming unit capacity were noted, alongside chromosome 7 aberrations in 16% of patients on cytogenetic studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings establish BM dysfunction as a persistent hallmark of SLSMD syndromes, posing a risk of clonal evolution and acquisition of chromosome 7 aberrations. This aligns with recent literature, emphasizing enduring BMF in SLSMD syndromes and advocating for tailored hematological monitoring guidelines for this unique patient cohort.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31383","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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