Pediatric Hematology and Oncology最新文献

{"title":"Psychosocial and mental profile of children with sickle cell disease and their caregivers.","authors":"Fatma S E Ebeid, Galila Mohamed Mokhtar, Eman Ahmed Zaky, Reham Ibrahim Abdelmageed, Nermeen Mohamed Elkamel, Heba G A Ali","doi":"10.1080/08880018.2023.2261975","DOIUrl":"10.1080/08880018.2023.2261975","url":null,"abstract":"<p><p>Sickle cell disease (SCD), a chronic debilitating disorder that may negatively affect health-related quality-of-life (HRQoL). In this observational, case-control study, we aim to assess the prevalence of impaired psychosocial profile and poor HRQoL among SCD patients and their caregivers as well as to determine the association of such impairment with parameters of disease severity. Sixty-five children and adolescents with SCD and 65 age- and sex-matched healthy controls and their caregivers were recruited. Demographic and clinical characteristics were collected, and a thorough clinical and psychiatric assessments and HR QoL were conducted. Recruited children and adolescents with SCD were 34 (52.3%) boys and 31 (47.7%) girls, and their mean age was 11.40 ± 3.55. Most of them (<i>n</i> = 44, 67.7%) had sickle HbSβ+, and vaso-occlusive crises were the most common causes for hospital admission (<i>n</i> = 24, 36.9%). Children with SCD and their caregivers had depression and anxiety symptoms scores higher than reported in the control group. Children with SCD had significantly less self-esteem and less QoL scores with the least scores were in the communication domain. This adverse psychological profile was significantly negatively correlated with the age of the child, duration of illness, number and duration of hospitalizations, disease severity score, and occurrence of complications. We conclude that HRQoL of children suffering from SCD, and their caregivers are adversely affected necessitating implementation of interventions which focus on reducing depressive symptoms, enhancing self-esteem and QoL.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":" ","pages":"15-29"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).","authors":"Victoria Min, Stephanie Coze, Claude D'Ercole, Nicoleta Panait, Sabine Sigaudy, Audrey Aschero, Helene Zattara, Florence Bretelle, Gabriel Revon-Riviere, Carole Coze","doi":"10.1080/08880018.2023.2245853","DOIUrl":"10.1080/08880018.2023.2245853","url":null,"abstract":"<p><p>Solid tumors or predisposition syndromes are increasingly suspected before birth. However optimal management and outcomes remain unclear. We have performed a ten-year retrospective study of oncologic indications of prenatal diagnosis in public hospitals in Marseille. Data were obtained from prenatal diagnosis center and hospital imaging databases and pediatric oncology department files. Fifty-one cases were identified, 40 with mass: adrenal 17, sacrococcygeal 9, cardiac 7, abdominal 4, ovarian 1, cervical 2; 8 with developmental abnormalities (omphalocele 4, macroglossia 4), 3 WITH familial predisposition syndromes (familial rhabdoid 2, Li-Fraumeni 1). Median detection time was 30 week. Termination of pregnancy was decided for 9 fetuses (4 cardiac lesions and suspected tuberous sclerosis, 2 sacrococcygeal tumors, 1 Beckwith-Wiedemann Syndrome, 2 <i>SMARCB1</i> mutations. Preterm birth occurred in 8 cases. Eleven newborns (26,1%) required intensive care (8 for mechanical complications). Of of 17 adrenal mass ES, 4 disappeared before birth and 5 before one year. Seventeen newborns underwent surgery: 13 masses (teratoma 7, myelomeningocele 2, cystic nephroma 1, neuroblastoma 2), 4 omphaloceles, one biopsy. Surgery performed after one year for incomplete regression identified 1 neuroblastoma, 2 bronchogenic cysts and 2 nonmalignant masses. Three newborns received chemotherapy. Except one patient with BWS who died of obstructive apnea, all children are alive disease free with a median follow-up of 60 months [9-131 months]. Twelve have sequelae. Various solid tumors and cancer predisposition syndromes can be detected before birth. A multidisciplinary collaboration is strongly recommended for optimal management before and after birth.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":" ","pages":"30-40"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10022443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcome of allogeneic stem cell transplant for Fanconi anemia in India.","authors":"Satya Prakash Yadav, Revathi Raj, Ramya Uppuluri, Dharma Choudhary, Divya Doval, Vikas Dua, Sunil Bhat, Gaurav Kharya, Rajesh Patil, Shweta Bansal, Deendayalan M, Intezar Mehdi, Vikram Mathews, Aby Abraham, Biju George","doi":"10.1080/08880018.2023.2286971","DOIUrl":"10.1080/08880018.2023.2286971","url":null,"abstract":"","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":" ","pages":"169-171"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138445652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare <i>TCF3</i> variants associated with pediatric B cell acute lymphoblastic leukemia.","authors":"Satoshi Miyamoto, Kevin Y Urayama, Yuki Arakawa, Katsuyoshi Koh, Yuki Yuza, Daisuke Hasegawa, Yuichi Taneyama, Yasushi Noguchi, Masakatsu Yanagimachi, Takeshi Inukai, Setsuo Ota, Hiroyuki Takahashi, Dai Keino, Daisuke Toyama, Junko Takita, Daisuke Tomizawa, Tomohiro Morio, Kazutoshi Koike, Koichi Moriwaki, Yuya Sato, Junya Fujimura, Daisuke Morita, Yujin Sekinaka, Kozue Nakamura, Kazuo Sakashita, Hiroaki Goto, Atsushi Manabe, Masatoshi Takagi","doi":"10.1080/08880018.2023.2201302","DOIUrl":"10.1080/08880018.2023.2201302","url":null,"abstract":"<p><p>Germline genetic variants influence development of pediatric B cell acute lymphoblastic leukemia (B-ALL). Genome-wide association studies (GWAS) have identified several pediatric B-ALL susceptibility loci. <i>IKZF1</i> and <i>PAX5</i>, transcription factors involved in B cell development, have been reported as susceptibility genes for B-ALL development. Therefore, we hypothesized that rare variants of genes involved in B cell development would be candidate susceptibility loci for pediatric B-ALL. Thus, we sequenced <i>TCF3</i>, a key transcription factor gene involving in B cell development. Saliva DNA from 527 pediatric patients with pediatric B-ALL in remission who were registered with the Tokyo Children's Cancer Study Group (TCCSG) were examined. As a <i>TCF3</i> gene-based evaluation, the numbers of rare deleterious germline <i>TCF3</i> sequence variants in patients with pediatric B-ALL were compared with those in cancer-free individuals using data in public databases. As a <i>TCF3</i> single-variant evaluation, the frequencies of rare deleterious germline <i>TCF3</i> sequence variants in patients with pediatric B-ALL were also compared with those in control data. <i>TCF3</i> gene-based analysis revealed significant associations between rare deleterious variants and pediatric B-ALL development. In addition, <i>TCF3</i> variant-based analysis showed particularly strong association between variant rs372168347 (three in 521 TCCSG and three in the 15780 gnomAD whole genome analysis cohort, <i>p</i> = 0.0006) and pediatric B-ALL development. <i>TCF3</i> variants are known to influence B cell maturation and may increase the risk of preleukemic clone emergence.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":" ","pages":"81-87"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9395308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of microRNAs in the diagnosis and monitoring of pediatric germ cell tumors: Kazakh experience.","authors":"Symbat Saliyeva, Riza Boranbayeva, Minira Bulegenova, Vyacheslav Beloussov","doi":"10.1080/08880018.2023.2267607","DOIUrl":"10.1080/08880018.2023.2267607","url":null,"abstract":"<p><p>GCT is characterized by specific biochemical markers expression, such as human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP), which are the main tools in the diagnosis and monitoring of GCT treatment. They are expressed in 15-20% of cases of seminoma and in 60-80% of cases of non-seminoma. MicroRNA profiling allows to identify a number of microRNAs that are superior to classical serum tumor markers in the diagnosis of primary tumors, as well as in subsequent monitoring and prediction of recurrence. We analyzed the expression of 9 microRNAs (microRNA clusters 302/367 and 371-373, microRNA375) in the blood serum of 20 children with extracranial GCT at different stages of therapy and showed their usefulness and informativeness in early detection of events. Taking into consideration the high sensitivity and specificity, serum microRNAs 367,371,372,373,302d are of great interest for clinical use in malignant GCT. Significant expression of miR 375-3p was not detected either in malignant GCT or in teratomas.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":" ","pages":"121-134"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71413403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can N-acetylcysteine reduce red blood cell transfusion burden in patients with transfusion-dependent β-thalassemia?","authors":"Gholamreza Bahoush, Mahdi Rahab, Parnian Ahmadvand","doi":"10.1080/08880018.2023.2292556","DOIUrl":"https://doi.org/10.1080/08880018.2023.2292556","url":null,"abstract":"Patients with beta-thalassemia major require lifelong and frequent red blood cell transfusions for survival, impacting their quality of life and life expectancy. This treatment approach poses risks...","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":"6 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138632114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole genome sequencing and inheritance-based variant filtering as a tool for unraveling missing heritability in pediatric cancer.","authors":"Charlotte Derpoorter,&nbsp;Ruben Van Paemel,&nbsp;Katrien Vandemeulebroecke,&nbsp;Jolien Vanhooren,&nbsp;Bram De Wilde,&nbsp;Geneviève Laureys,&nbsp;Tim Lammens","doi":"10.1080/08880018.2022.2101723","DOIUrl":"https://doi.org/10.1080/08880018.2022.2101723","url":null,"abstract":"<p><p>Survival rates for pediatric cancer have significantly increased the past decades, now exceeding 70-80% for most cancer types. The cause of cancer in children and adolescents remains largely unknown and a genetic susceptibility is considered in up to 10% of the cases, but most likely this is an underestimation. Families with multiple pediatric cancer patients are rare and strongly suggestive for an underlying predisposition to cancer. The absence of identifiable mutations in known cancer predisposing genes in such families could indicate undiscovered heritability. To discover candidate susceptibility variants, whole genome sequencing was performed on germline DNA of a family with two children affected by Burkitt lymphoma. Using an inheritance-based filtering approach, 18 correctly segregating coding variants were prioritized without a biased focus on specific genes or variants. Two variants in <i>FAT4</i> and <i>DCHS2</i> were highlighted, both involved in the Hippo signaling pathway, which controls tissue growth and stem cell activity. Similarly, a set of nine non-coding variants was prioritized, which might contribute, in differing degrees, to the increased cancer risk within this family. In conclusion, inheritance-based whole genome sequencing in selected families or cases is a valuable approach to prioritize variants and, thus, to further unravel genetic predisposition in childhood cancer.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":"40 4","pages":"326-340"},"PeriodicalIF":1.7,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9437132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epigenetic age acceleration among survivors of pediatric medulloblastoma and primitive neuroectodermal tumor.","authors":"Rachel D Harris, Melissa A Richard, Maria Monica J Gramatges, Kevin Wilhelm, Michael E Scheurer, Philip J Lupo, Austin L Brown","doi":"10.1080/08880018.2022.2101722","DOIUrl":"10.1080/08880018.2022.2101722","url":null,"abstract":"<p><p>Survivors of childhood central nervous system (CNS) tumors experience early-onset aging-related phenotypes. DNA methylation (DNAm) age is an emerging epigenetic biomarker of physiologic age and may be predictive of chronic health conditions in long-term survivors. This report describes the course of epigenetic age acceleration using post-diagnosis blood samples (median: 3.9 years post-diagnosis; range: 0.04-15.96) from 83 survivors of pediatric CNS tumors. Epigenetic age acceleration was detected in 72% of patients, with an average difference between chronologic and DNAm age of 2.58 years (95% CI: 1.75-3.41, <i>p</i> < 0.001). Time from diagnosis to sample collection correlated with the magnitude of epigenetic age acceleration.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":"40 4","pages":"407-411"},"PeriodicalIF":1.7,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10702578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9747392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How do you tell parents whose child has cancer that the treatment has failed: A qualitative study on pediatric oncologists' practices.","authors":"Johanna Terrasson,&nbsp;Aude Rault,&nbsp;Étienne Seigneur,&nbsp;Leïla El Mellah,&nbsp;Sylvie Dolbeault,&nbsp;Anne Brédart","doi":"10.1080/08880018.2022.2120936","DOIUrl":"https://doi.org/10.1080/08880018.2022.2120936","url":null,"abstract":"<p><p>Announcing drug resistance is complex for pediatric oncologists because they have to provide a substantial amount of medical information while taking a major emotional impact on the parents into account. This study aimed to understand how these announcements are currently conducted and how pediatric oncologists adapt the information given to each family in situations where there is resistance to treatment. Semi-structured interviews were conducted with 15 pediatric oncologists (66.7% women, aged 44.7 years on average). Interviews were audio-recorded and a thematic content analysis was conducted. Announcements of drug resistance are stressful, as they are not well codified, difficult to anticipate, and pediatric oncologists have many issues about how best to behave and which words to choose. The majority of them believe that the severity, or even the incurability of the disease, and the offer of a therapeutic alternative are essential components of the information to pass on. Pediatric oncologists describe how they adapt their communication to each family, particularly in relation to parents' questions, and also to their reactions during the announcement. They also need to adapt to the prior acquaintance they may have with the families, and to previous exchanges. Finally, pediatric oncologists acknowledge their subjectivity when estimating the parents need in terms of information. Understanding the course of these announcements gives us another point of view at the issues involved in this announcement. Proposals to support pediatric oncologists in this difficult moment can be suggested: communication support tool, work in pairs and discussion group.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":"40 4","pages":"382-394"},"PeriodicalIF":1.7,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of pharmacological efficacy and safety of hydroxyurea in sickle cell disease: Study of a pediatric cohort from Chhattisgarh, India.","authors":"Harsha Lad,&nbsp;Shoma Naskar,&nbsp;S K D B Punyasri Pasupuleti,&nbsp;Rakesh Nahrel,&nbsp;Pradeep Sihare,&nbsp;Giriraj R Chandak,&nbsp;Pradeep K Patra","doi":"10.1080/08880018.2022.2126042","DOIUrl":"https://doi.org/10.1080/08880018.2022.2126042","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a disease of abnormal hemoglobin associated with severe clinical phenotype and recurrent complications. Hydroxyurea (HU) is one of the US-FDA approved and commonly used drug for the treatment of adult SCD patients with clinical -severity. However, its use in the pediatric groups remains atypical. Despite a high prevalence of the disease in the state Chhattisgarh, there is a lack of evidence supporting its use in pediatric patients. This study aimed to evaluate the pharmacological and clinical efficacy and safety of HU in a large pediatric cohort with SCD from Central India. The study cohort consisted of 164 SCD (138 Hb SS and 26 Hb S beta-thalassemia) children (≤14 years of age) on HU therapy, who were monitored for toxicity, hematological and clinical efficacy at baseline (Pre-HU) and after 24 months (Post-HU). The results highlight the beneficial effects of HU at a mean dose of 18.7 ± 7.0 mg/kg/day. A significant improvement was observed, not only in physical and clinical parameters but also in hematological parameters which include fetal hemoglobin (Hb F), total hemoglobin, hematocrit, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels, when evaluated against the baseline. We did not observe any significant adverse effects during the treatment period. Similar results were obtained on independent analysis of Hb SS and Hb Sβ patients. These findings strengthen the beneficial effect of hydroxyurea in pediatric population also without any serious adverse effects and builds up ground for expanding its use under regular monitoring.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":"40 4","pages":"395-406"},"PeriodicalIF":1.7,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}