Catherine R. Hoyt, Erin MacArthur, Hayes Leaver, Ashley L. Wilson, Kandace Davis, Kelly M. Harris, Riley Damiano, Hunter Moore, Ashley J. Housten, Rosemary Britts, Jane Silva Hankins, Allison A. King, Andrew M. Heitzer
Objective
This study characterized caregivers’ beliefs related to early intervention services for children with sickle cell disease (SCD) to gain an indepth understanding of caregivers' experiences and desires for early intervention services.
Methods
Both qualitative and quantitative data were collected from caregivers of children aged 0–4 years with SCD across two sites in the United States. Caregivers completed the Knowledge of Infant Development Inventory, a custom survey about their experiences with early intervention, and a qualitative interview.
Results
A total of 127 caregivers were approached, 47 participated in surveys, and 20 completed interviews. Caregivers expressed varying levels of confidence and understanding of developmental milestones across sites. Interviews highlighted three main themes: fear of SCD-related complications, variable buy-in to early intervention, and the importance of provider–caregiver relationships. While some caregivers appreciated early intervention, others questioned its necessity. Caregivers communicated interest in connecting with other families facing similar challenges, emphasizing the need for increased awareness of available resources.
Conclusions
Fear about their child's well-being was expressed by many caregivers, emphasizing the need for a supportive healthcare team that can help families connect with preventive interventions. While about a quarter of children had been referred to rehabilitation services, caregivers were unaware of the elevated risk for developmental delay, which diminished caregiver interest in participating in programs like early intervention. This study underscores the importance of addressing knowledge gaps and overcoming barriers to enhance care for families affected by SCD.
目的：本研究描述了照顾者对镰状细胞病（SCD）儿童早期干预服务的看法：本研究描述了照顾者对镰状细胞病（SCD）儿童早期干预服务的看法，以深入了解照顾者的经验和对早期干预服务的期望：方法： 在美国的两个地点收集了 0-4 岁 SCD 儿童照护者的定性和定量数据。照护者填写了《婴儿发育知识量表》（Knowledge of Infant Development Inventory）、一份有关其早期干预经验的定制调查表以及一份定性访谈：共接触了 127 名照护者，其中 47 人参与了调查，20 人完成了访谈。不同地点的照护者对发育里程碑的信心和理解程度各不相同。访谈强调了三大主题：对 SCD 相关并发症的恐惧、对早期干预的不同认同度以及医疗服务提供者与照护者关系的重要性。一些照护者对早期干预表示赞赏，而另一些则质疑其必要性。照护者表示有兴趣与其他面临类似挑战的家庭建立联系，强调需要提高对可用资源的认识：结论：许多照顾者表示担心孩子的健康，强调需要一个支持性的医疗团队来帮助家庭联系预防性干预措施。虽然约四分之一的儿童已被转介到康复服务机构，但照护者并不知道发育迟缓的风险会升高，这降低了照护者参与早期干预等项目的兴趣。这项研究强调了解决知识差距和克服障碍以加强对受 SCD 影响的家庭的护理的重要性。
{"title":"“I was very scared when I found out my son had sickle cell”: Caregiver knowledge and attitudes toward early intervention for young children with sickle cell disease: Implications for policy and practice from a multi-site study","authors":"Catherine R. Hoyt, Erin MacArthur, Hayes Leaver, Ashley L. Wilson, Kandace Davis, Kelly M. Harris, Riley Damiano, Hunter Moore, Ashley J. Housten, Rosemary Britts, Jane Silva Hankins, Allison A. King, Andrew M. Heitzer","doi":"10.1002/pbc.31308","DOIUrl":"10.1002/pbc.31308","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study characterized caregivers’ beliefs related to early intervention services for children with sickle cell disease (SCD) to gain an indepth understanding of caregivers' experiences and desires for early intervention services.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Both qualitative and quantitative data were collected from caregivers of children aged 0–4 years with SCD across two sites in the United States. Caregivers completed the Knowledge of Infant Development Inventory, a custom survey about their experiences with early intervention, and a qualitative interview.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 127 caregivers were approached, 47 participated in surveys, and 20 completed interviews. Caregivers expressed varying levels of confidence and understanding of developmental milestones across sites. Interviews highlighted three main themes: fear of SCD-related complications, variable buy-in to early intervention, and the importance of provider–caregiver relationships. While some caregivers appreciated early intervention, others questioned its necessity. Caregivers communicated interest in connecting with other families facing similar challenges, emphasizing the need for increased awareness of available resources.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Fear about their child's well-being was expressed by many caregivers, emphasizing the need for a supportive healthcare team that can help families connect with preventive interventions. While about a quarter of children had been referred to rehabilitation services, caregivers were unaware of the elevated risk for developmental delay, which diminished caregiver interest in participating in programs like early intervention. This study underscores the importance of addressing knowledge gaps and overcoming barriers to enhance care for families affected by SCD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126337","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}
Nuttra Suwantarat, Pornchanok Iamsirirak, Jiraporn Chanapai, Samart Pakakasama, Borje S Andersson, Jaap Jan Boelens, Usanarat Anurathapan, Suradej Hongeng
{"title":"Desensitization with daratumumab in a pediatric patient with thalassemia major and high donor-specific antibody prior to haploidentical transplantation","authors":"Nuttra Suwantarat, Pornchanok Iamsirirak, Jiraporn Chanapai, Samart Pakakasama, Borje S Andersson, Jaap Jan Boelens, Usanarat Anurathapan, Suradej Hongeng","doi":"10.1002/pbc.31311","DOIUrl":"10.1002/pbc.31311","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126341","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}
Sameer Farouk Sait, Nancy A. Kernan, Elizabeth Klein, Barbara Spitzer, Carolyn Fein Levy, Jonathan Fish, Onur Yildrim, Sofia Haque, Maria Donzelli, Mauricio Rendon Bernot, David H. Abramson, Jasmine H. Francis, Yasmin Khakoo, Matthias Karajannis, Stephen Sands, Neeta Pandit-Taskar, Suzanne Wolden, Kim Kramer, Ira J. Dunkel
Background
The prognosis for patients with central nervous system (CNS) retinoblastoma (RB) (trilateral or stage 4b metastatic RB) treated with high-dose chemotherapy and autologous stem cell transplant (HDC-ASCT) remains poor. The impact of irradiation when administered as part of upfront therapy post HDC-ASCT on treatment outcomes and survival is unknown.
Methods
We performed a retrospective review of all patients with CNS RB (seven stage 4b, eight trilateral, one pineal lesion belonging to methylation group RB) who underwent induction chemotherapy with an intent to proceed to HDC-ASCT at two institutions.
Results
Twelve of 16 patients (n = 75%) achieved an objective response to induction chemotherapy, while four patients had progressive/refractory disease; two patients responded to subsequent therapy and proceeded to ASCT, and two patients did not. Seven of 14 patients who underwent HDC-ASCT, received radiotherapy as part of upfront therapy post HDC-ASCT in the form of craniospinal irradiation (CSI) (n = 3), intraventricular radioimmunotherapy (n = 3), or both CSI and intraventricular radioimmunotherapy (n = 1). The Kaplan–Meier estimate of overall survival for these patients was 62.5% at 5 years; no patients developed second malignant neoplasms within the radiation fields. For the seven patients who did not receive radiotherapy, the overall survival was 28.6% at 5 years.
Conclusions
CSI (23.4 Gy) alone or in conjunction with intraventricular RIT may have clinical utility in eliminating persistent MRD post HDC-ASCT, contributing to improved disease-free survival in patients with CNS RB. This treatment strategy merits evaluation in a prospective, multicenter clinical trial for patients with CNS metastatic RB.
{"title":"Craniospinal irradiation and/or intraventricular radioimmunotherapy after high-dose chemotherapy and autologous stem cell rescue in patients with CNS retinoblastoma—Safety and outcomes","authors":"Sameer Farouk Sait, Nancy A. Kernan, Elizabeth Klein, Barbara Spitzer, Carolyn Fein Levy, Jonathan Fish, Onur Yildrim, Sofia Haque, Maria Donzelli, Mauricio Rendon Bernot, David H. Abramson, Jasmine H. Francis, Yasmin Khakoo, Matthias Karajannis, Stephen Sands, Neeta Pandit-Taskar, Suzanne Wolden, Kim Kramer, Ira J. Dunkel","doi":"10.1002/pbc.31297","DOIUrl":"10.1002/pbc.31297","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The prognosis for patients with central nervous system (CNS) retinoblastoma (RB) (trilateral or stage 4b metastatic RB) treated with high-dose chemotherapy and autologous stem cell transplant (HDC-ASCT) remains poor. The impact of irradiation when administered as part of upfront therapy post HDC-ASCT on treatment outcomes and survival is unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a retrospective review of all patients with CNS RB (seven stage 4b, eight trilateral, one pineal lesion belonging to methylation group RB) who underwent induction chemotherapy with an intent to proceed to HDC-ASCT at two institutions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Twelve of 16 patients (<i>n</i> = 75%) achieved an objective response to induction chemotherapy, while four patients had progressive/refractory disease; two patients responded to subsequent therapy and proceeded to ASCT, and two patients did not. Seven of 14 patients who underwent HDC-ASCT, received radiotherapy as part of upfront therapy post HDC-ASCT in the form of craniospinal irradiation (CSI) (<i>n</i> = 3), intraventricular radioimmunotherapy (<i>n</i> = 3), or both CSI and intraventricular radioimmunotherapy (<i>n</i> = 1). The Kaplan–Meier estimate of overall survival for these patients was 62.5% at 5 years; no patients developed second malignant neoplasms within the radiation fields. For the seven patients who did not receive radiotherapy, the overall survival was 28.6% at 5 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>CSI (23.4 Gy) alone or in conjunction with intraventricular RIT may have clinical utility in eliminating persistent MRD post HDC-ASCT, contributing to improved disease-free survival in patients with CNS RB. This treatment strategy merits evaluation in a prospective, multicenter clinical trial for patients with CNS metastatic RB.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110708","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}
Diriba Fufa, Cecilia Mdoka, Mulugeta Ayalew, Harriet Khofi, Emmanuel Amankwah, Nester Chokwenda, Esubalew Mezgebu, Annelies M. C. Mavinkurve-Groothuis, Steve Kamiza, Beatrice Chikaphonya-Phiri, Mulugeta Wassie, Barnabas Atwiine, Mushabe Branchard, Maite Gorostegui, Jeannette Parkes, Evaristar Kudowa, Bernice Eklu, Brian Jator, Lorna Awo Renner, Eric Borgstein, Elizabeth Molyneux, Francine Kouya, Kathy Pritchard-Jones, Vivian Paintsil, Inam Chitsike, George Chagaluka, Trijn Israels
Background
Wilms tumour (WT) is one of the cancer types targeted by the Global Initiative for Childhood Cancer (GICC). The objective of this study was to describe the outcomes of Wilms Africa Phase II in sub-Saharan Africa.
Methods
Wilms Africa Phase II used a comprehensive WT treatment protocol in a multi-centre, prospective study conducted in eight hospitals in Ethiopia (2), Ghana (2), Malawi, Cameroon, Zimbabwe and Uganda. Eligibility criteria were: age younger than 16 years, unilateral WT, diagnosed between 1 January 2021 and 31 December 2022.
Results
We included 230 WT patients, median age 3 years, 53% male. Median maximum tumour diameter at diagnosis was 13.6 cm and 33% of patients had metastatic disease. Nephrectomy was performed in 71% of patients, of whom 21% had a tumour rupture. Two-year event-free survival (EFS) was 41.3% ± 3.9% after a median follow-up of 17 months (range: 1–33 months), with treatment abandonment considered an event. Treatment abandonment occurred in 26% and death during treatment in 14%. Disease relapse occurred in 10%. Two-year EFS of the 26 patients who received radiotherapy was 64.5% ± 9.7% with no reported disease relapse.
Conclusion
Patients continue to present late with advanced WT in sub-Saharan Africa, and their survival is below the 60% GICC target. Prevention of treatment abandonment and treatment-related mortality remain important. Earlier diagnosis and access to radiotherapy are expected to decrease disease-related mortality.
{"title":"Effectiveness of a Wilms tumour treatment guideline adapted to local circumstances in sub-Saharan Africa: A report from Wilms Africa Phase II—CANCaRe Africa","authors":"Diriba Fufa, Cecilia Mdoka, Mulugeta Ayalew, Harriet Khofi, Emmanuel Amankwah, Nester Chokwenda, Esubalew Mezgebu, Annelies M. C. Mavinkurve-Groothuis, Steve Kamiza, Beatrice Chikaphonya-Phiri, Mulugeta Wassie, Barnabas Atwiine, Mushabe Branchard, Maite Gorostegui, Jeannette Parkes, Evaristar Kudowa, Bernice Eklu, Brian Jator, Lorna Awo Renner, Eric Borgstein, Elizabeth Molyneux, Francine Kouya, Kathy Pritchard-Jones, Vivian Paintsil, Inam Chitsike, George Chagaluka, Trijn Israels","doi":"10.1002/pbc.31300","DOIUrl":"10.1002/pbc.31300","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Wilms tumour (WT) is one of the cancer types targeted by the Global Initiative for Childhood Cancer (GICC). The objective of this study was to describe the outcomes of Wilms Africa Phase II in sub-Saharan Africa.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Wilms Africa Phase II used a comprehensive WT treatment protocol in a multi-centre, prospective study conducted in eight hospitals in Ethiopia (2), Ghana (2), Malawi, Cameroon, Zimbabwe and Uganda. Eligibility criteria were: age younger than 16 years, unilateral WT, diagnosed between 1 January 2021 and 31 December 2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 230 WT patients, median age 3 years, 53% male. Median maximum tumour diameter at diagnosis was 13.6 cm and 33% of patients had metastatic disease. Nephrectomy was performed in 71% of patients, of whom 21% had a tumour rupture. Two-year event-free survival (EFS) was 41.3% ± 3.9% after a median follow-up of 17 months (range: 1–33 months), with treatment abandonment considered an event. Treatment abandonment occurred in 26% and death during treatment in 14%. Disease relapse occurred in 10%. Two-year EFS of the 26 patients who received radiotherapy was 64.5% ± 9.7% with no reported disease relapse.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Patients continue to present late with advanced WT in sub-Saharan Africa, and their survival is below the 60% GICC target. Prevention of treatment abandonment and treatment-related mortality remain important. Earlier diagnosis and access to radiotherapy are expected to decrease disease-related mortality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142093668","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}
Alison Lehane, Stephanie F. Polites, Ashley Dodd, Seth D. Goldstein, Timothy B. Lautz
A new generation of disease-specific molecular imaging agents is poised to revolutionize fluorescence-guided surgery. Pafolacianine has been approved for adult lung and ovarian cancers. We demonstrate a proof of concept for pediatric surgeons treating young adults with pulmonary metastatic sarcomas. Five successful fluorescence-guided pulmonary metastasectomy operations were performed in young adult patients with metastatic osteosarcoma or Ewing sarcoma following administration of pafolacianine. All osteosarcoma lesions identified using standard techniques were also markedly fluorescent in patients. Novel fluorescent molecular agents targeted to tumor-specific receptors have promise of increased sensitivity and specificity for detecting metastatic nodules and enhancing surgical clearance of disease.
{"title":"Let it glow: Intraoperative visualization of pulmonary metastases using pafolacianine, a next-generation fluorescent agent, for young adults undergoing pulmonary metastasectomy","authors":"Alison Lehane, Stephanie F. Polites, Ashley Dodd, Seth D. Goldstein, Timothy B. Lautz","doi":"10.1002/pbc.31293","DOIUrl":"10.1002/pbc.31293","url":null,"abstract":"<p>A new generation of disease-specific molecular imaging agents is poised to revolutionize fluorescence-guided surgery. Pafolacianine has been approved for adult lung and ovarian cancers. We demonstrate a proof of concept for pediatric surgeons treating young adults with pulmonary metastatic sarcomas. Five successful fluorescence-guided pulmonary metastasectomy operations were performed in young adult patients with metastatic osteosarcoma or Ewing sarcoma following administration of pafolacianine. All osteosarcoma lesions identified using standard techniques were also markedly fluorescent in patients. Novel fluorescent molecular agents targeted to tumor-specific receptors have promise of increased sensitivity and specificity for detecting metastatic nodules and enhancing surgical clearance of disease.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081182","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}
Daniela Torres Hernández, Kevin Martínez Pérez, Oscar Ramírez, Andrés Portilla, Jorge Buitrago, Juan Manuel Muñoz, Diana M. Líbreros, Eduardo López-Medina
{"title":"Invasive coinfection by rare fungi during the prehematopoietic stem cell transplant period in a child with acute lymphoblastic leukemia","authors":"Daniela Torres Hernández, Kevin Martínez Pérez, Oscar Ramírez, Andrés Portilla, Jorge Buitrago, Juan Manuel Muñoz, Diana M. Líbreros, Eduardo López-Medina","doi":"10.1002/pbc.31296","DOIUrl":"10.1002/pbc.31296","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142073464","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}
Ebuka Miracle Anieto, Precious Madzimbe, Joanne Potterton, Pia Delano, Prince Makupe, Jennifer Geel, Neil Ranasinghe, Julia Challinor, Abu Sidhanee
Childhood cancer treatment in Africa has a dramatically increasing patient population resulting in greater rehabilitation needs. The International Society of Paediatric Oncology (SIOP) mapped childhood cancer services in Africa including access to physiotherapy. Irrespective of income classification, just over two-thirds of countries in Africa reported having access to physiotherapy services in paediatric oncology sites. There is a lack of knowledge about African childhood physiotherapy services. Research is needed to understand the rehabilitation needs of these children/adolescents and how to meet their needs in a globally equitable and sustainable way.
{"title":"Paediatric oncology physiotherapy in Africa: International Society of Paediatric Oncology (SIOP) Global Mapping Programme","authors":"Ebuka Miracle Anieto, Precious Madzimbe, Joanne Potterton, Pia Delano, Prince Makupe, Jennifer Geel, Neil Ranasinghe, Julia Challinor, Abu Sidhanee","doi":"10.1002/pbc.31299","DOIUrl":"10.1002/pbc.31299","url":null,"abstract":"<p>Childhood cancer treatment in Africa has a dramatically increasing patient population resulting in greater rehabilitation needs. The International Society of Paediatric Oncology (SIOP) mapped childhood cancer services in Africa including access to physiotherapy. Irrespective of income classification, just over two-thirds of countries in Africa reported having access to physiotherapy services in paediatric oncology sites. There is a lack of knowledge about African childhood physiotherapy services. Research is needed to understand the rehabilitation needs of these children/adolescents and how to meet their needs in a globally equitable and sustainable way.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31299","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142073466","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}
Accurate molecular and clinical stratification of patients with central nervous system (CNS) non-germinomatous germ cell tumors (NGGCTs) remains challenging, impeding the development of personalized therapeutic approaches. Herein, we investigated the translational significance of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) in pediatric NGGCTs to identify characteristic features of CNS NGGCTs and to identify a subset of patients for whom the presence of residual disease is a risk factor and an indicator of shorter progression-free survival (PFS) and overall survival (OS).
Methods
Medical records of patients with CNS NGGCTs between January 1, 2018 and December 31, 2022 were reviewed retrospectively.
Results
The cohort consisted of 11 male and six female patients. Tumor markers were elevated in four of the five people who underwent surgery. The remaining 12 patients were diagnosed with malignant NGGCTs according to elevated tumor markers. Among them, ctDNA before chemotherapy as well as ctDNA clearance were consistently associated with PFS and OS (p < .05). By setting a ctDNA positivity threshold of 6%, patients with high ctDNA (above the threshold) levels, which had limitation due to the selection based on optimal statistic from the survival analysis, had significantly inferior 5-year PFS and OS compared to those with low levels (below the threshold). ctDNA or ctDNA clearance combined with the presence of residual disease predicted significantly worse OS and PFS (p < .05).
Conclusions
CSF ctDNA might allow the study of genomic evolution and the characterization of tumors in pediatric NGGCTs. CSF ctDNA analysis may facilitate the clinical management of pediatric NGGCT patients, and aid in designing personalized therapeutic strategies.
{"title":"Monitoring pediatric CNS non-germinomatous germ cell tumors via cerebrospinal fluid circulating tumor DNA","authors":"Yu-Tong Zhang, Xian-Mei Jin, Xiao-Dan Zhong, Jian Chang","doi":"10.1002/pbc.31288","DOIUrl":"10.1002/pbc.31288","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Accurate molecular and clinical stratification of patients with central nervous system (CNS) non-germinomatous germ cell tumors (NGGCTs) remains challenging, impeding the development of personalized therapeutic approaches. Herein, we investigated the translational significance of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) in pediatric NGGCTs to identify characteristic features of CNS NGGCTs and to identify a subset of patients for whom the presence of residual disease is a risk factor and an indicator of shorter progression-free survival (PFS) and overall survival (OS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Medical records of patients with CNS NGGCTs between January 1, 2018 and December 31, 2022 were reviewed retrospectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The cohort consisted of 11 male and six female patients. Tumor markers were elevated in four of the five people who underwent surgery. The remaining 12 patients were diagnosed with malignant NGGCTs according to elevated tumor markers. Among them, ctDNA before chemotherapy as well as ctDNA clearance were consistently associated with PFS and OS (<i>p </i>< .05). By setting a ctDNA positivity threshold of 6%, patients with high ctDNA (above the threshold) levels, which had limitation due to the selection based on optimal statistic from the survival analysis, had significantly inferior 5-year PFS and OS compared to those with low levels (below the threshold). ctDNA or ctDNA clearance combined with the presence of residual disease predicted significantly worse OS and PFS (<i>p </i>< .05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>CSF ctDNA might allow the study of genomic evolution and the characterization of tumors in pediatric NGGCTs. CSF ctDNA analysis may facilitate the clinical management of pediatric NGGCT patients, and aid in designing personalized therapeutic strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31288","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142073465","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}
Neeraja Swaminathan, Joshua D. Smith, Hemant A. Parmar, Joseph J. Gemmete, Steven W. Pipe, David A. Zopf
{"title":"Experience with trametinib in a pediatric patient with MAP2K1-related cervicofacial arteriovenous malformation","authors":"Neeraja Swaminathan, Joshua D. Smith, Hemant A. Parmar, Joseph J. Gemmete, Steven W. Pipe, David A. Zopf","doi":"10.1002/pbc.31298","DOIUrl":"10.1002/pbc.31298","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142073463","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}
Olha Dorosh, Khrystyna Bodak, Iryna Tsymbalyuk-Voloshyn, Halyna Makukh, Olena Kreminska, Ihor Hrytsiuk, Laura Battisti, Miriam Erlacher, Marcin Wlodarski, Sinead M McGlacken-Byrne, John C Achermann, Charlotte M Niemeyer, Ayami Yoshimi
{"title":"Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case","authors":"Olha Dorosh, Khrystyna Bodak, Iryna Tsymbalyuk-Voloshyn, Halyna Makukh, Olena Kreminska, Ihor Hrytsiuk, Laura Battisti, Miriam Erlacher, Marcin Wlodarski, Sinead M McGlacken-Byrne, John C Achermann, Charlotte M Niemeyer, Ayami Yoshimi","doi":"10.1002/pbc.31294","DOIUrl":"10.1002/pbc.31294","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081181","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}
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