Pediatric Hematology and Oncology最新文献

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Access to Methotrexate Monitoring in Latin America: A Multicountry Survey of Supportive Care Capacity. 拉丁美洲接受甲氨蝶呤监测的情况:支持性护理能力的多国调查。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2024-02-10 DOI: 10.1080/08880018.2023.2271013
Gabriela Villanueva, Jennifer Lowe, Nicolás Tentoni, Ankit Taluja, Milena Villarroel, Carlos E Narváez, Sandra Alarcón León, Diana L Valencia Libreros, Natalia Gonzalez Suárez, Torben S Mikkelsen, Scott C Howard
{"title":"Access to Methotrexate Monitoring in Latin America: A Multicountry Survey of Supportive Care Capacity.","authors":"Gabriela Villanueva, Jennifer Lowe, Nicolás Tentoni, Ankit Taluja, Milena Villarroel, Carlos E Narváez, Sandra Alarcón León, Diana L Valencia Libreros, Natalia Gonzalez Suárez, Torben S Mikkelsen, Scott C Howard","doi":"10.1080/08880018.2023.2271013","DOIUrl":"10.1080/08880018.2023.2271013","url":null,"abstract":"<p><p>High-dose methotrexate (HDMTX) is used to treat a broad spectrum of cancers. Methotrexate (MTX) monitoring and adequate supportive care are critical for safe drug administration; however, MTX level timing is not always possible in low- and middle-income countries. The aim of this study was to evaluate HDMTX supportive care capacity and MTX monitoring practices in Latin America (LATAM) to identify gaps and opportunities for improvement. A multicenter survey was conducted among LATAM pediatric oncologists. Twenty healthcare providers from 20 institutions answered the online questionnaire. HDMTX was used to treat acute lymphoblastic leukemia (ALL; 100%), non-Hodgkin lymphoma (84.2%), diffuse large B-cell lymphoma (47.4%), osteosarcoma (78.9%), and medulloblastoma (31.6%). Delays in starting HDMTX infusion were related to bed shortages (47.4%) and MTX shortages (21.1%). MTX monitoring was performed at an in-hospital laboratory in 52%, at an external/nearby laboratory in 31.6%, and was not available in 10.5%. Median interval between sampling and obtaining MTX levels was ≤ 2 h in 45% and ≥ 6 h in 30%, related to laboratory location. Sites without access to MTX monitoring reduced the MTX dose for patients with high-risk ALL or did not include MTX in the treatment of patients with osteosarcoma. Respondents reported that implementation of point-of-care testing of MTX levels is feasible. In LATAM, highly variable supportive care capacity may affect the safe administration of MTX doses. Improving accessibility of MTX monitoring and the speed of obtaining results should be prioritized to allow delivery of full doses of MTX required by the current protocols.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49691823","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}
引用次数: 0
Barriers to Accessing Fertility Preservation in Adolescents with Hodgkin Lymphoma in India. 印度青少年霍奇金淋巴瘤患者获得生育力保护的障碍。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-06-02 DOI: 10.1080/08880018.2023.2218444
Dilpreet Kaur Banwait, Puneet Rana Arora, Amita Mahajan, Veronique Dinand, Sandeep Jain, Manas Kalra, Jagdish Chandra, Ramandeep Singh Arora
{"title":"Barriers to Accessing Fertility Preservation in Adolescents with Hodgkin Lymphoma in India.","authors":"Dilpreet Kaur Banwait, Puneet Rana Arora, Amita Mahajan, Veronique Dinand, Sandeep Jain, Manas Kalra, Jagdish Chandra, Ramandeep Singh Arora","doi":"10.1080/08880018.2023.2218444","DOIUrl":"10.1080/08880018.2023.2218444","url":null,"abstract":"","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9562464","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}
引用次数: 0
Consensus survey on the management of children with chemotherapy-induced febrile neutropenia and at low risk of severe infection. 化疗诱发发热性中性粒细胞减少症且严重感染风险较低的患儿管理共识调查。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-06-09 DOI: 10.1080/08880018.2023.2218406
Aude Givone, Jean Duval-Destin, Mathilde Delebarre, Wadih Abou-Chahla, Cyril Lervat, François Dubos
{"title":"Consensus survey on the management of children with chemotherapy-induced febrile neutropenia and at low risk of severe infection.","authors":"Aude Givone, Jean Duval-Destin, Mathilde Delebarre, Wadih Abou-Chahla, Cyril Lervat, François Dubos","doi":"10.1080/08880018.2023.2218406","DOIUrl":"10.1080/08880018.2023.2218406","url":null,"abstract":"<p><p>Our aim was to identify national consensus criteria for the management of children with chemotherapy-induced febrile neutropenia (FN), for evidence-based step-down treatment approaches for patients classified at low risk of severe infection. In 2018, a five-section, 38-item survey was e-mailed to all pediatric hematology and oncology units in France (<i>n</i> = 30). The five sections contained statements on possible consensus criteria for the (i) definition of FN, (ii) initial management of children with FN, (iii) conditions required for initiating step-down therapy in low-risk patients, (iv) management strategy for low-risk patients, and (v) antibiotic treatment on discharge. Consensus was defined by respondents' combined answers (somewhat agree and strongly agree) at 75% or more. Sixty-five physicians (participation rate: 58%), all specialists in pediatric onco-hematology, from 18 centers completed the questionnaire. A consensus was reached on 22 of the 38 statements, including the definition of FN, the criteria for step-down therapy in low-risk children, and the initial care of these patients. There was no consensus on the type and duration of antibiotic therapy on discharge. In conclusion, a consensus has been reached on the criteria for initiating evidence-based step-down treatment of children with FN and a low risk of severe infection but not for the step-down antimicrobial regimen.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9593127","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}
引用次数: 0
An unusual case of primary cold agglutinin-associated lymphoproliferative disease in an adolescent female. 一例罕见的青春期女性原发性冷凝集素相关淋巴组织增生病。
IF 1.2 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-05-11 DOI: 10.1080/08880018.2023.2166633
Panagiotis Tsarouhas, Melissa Stalling, Carmen Julius, Jeffrey Hord
{"title":"An unusual case of primary cold agglutinin-associated lymphoproliferative disease in an adolescent female.","authors":"Panagiotis Tsarouhas, Melissa Stalling, Carmen Julius, Jeffrey Hord","doi":"10.1080/08880018.2023.2166633","DOIUrl":"10.1080/08880018.2023.2166633","url":null,"abstract":"","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9436909","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}
引用次数: 0
Potential role of serum vitamin D as a risk factor in pediatric acute lymphoblastic leukemia. 血清维生素 D 作为小儿急性淋巴细胞白血病风险因素的潜在作用。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-07-21 DOI: 10.1080/08880018.2023.2202687
Pardis Nematollahi, Sina Arabi, Marjan Mansourian, Saeed Yousefian, Alireza Moafi, Sayed Nassereddin Mostafavi, Amirmansour Alavi Naeini, Afshin Ebrahimi, Karim Ebrahimpour, Mohammad Mehdi Amin, Aryan Kavosh, Shirin Mahmoudi Kohi, Roya Kelishadi
{"title":"Potential role of serum vitamin D as a risk factor in pediatric acute lymphoblastic leukemia.","authors":"Pardis Nematollahi, Sina Arabi, Marjan Mansourian, Saeed Yousefian, Alireza Moafi, Sayed Nassereddin Mostafavi, Amirmansour Alavi Naeini, Afshin Ebrahimi, Karim Ebrahimpour, Mohammad Mehdi Amin, Aryan Kavosh, Shirin Mahmoudi Kohi, Roya Kelishadi","doi":"10.1080/08880018.2023.2202687","DOIUrl":"10.1080/08880018.2023.2202687","url":null,"abstract":"<p><p>Vitamin D deficiency/insufficiency (VDD, VDI) is common in children yet limited experience exists on the association of VDD and hematologic malignancies amongst this population. Therefore, this study aimed to compare serum vitamin D levels in children with acute lymphoblastic leukemia (ALL) and controls. Moreover, vitamin D levels is compared in subjects with and without relapse and evaluated as a prognostic factor for relapse-free survival (RFS). Children with newly diagnosed ALL were recruited as case group. Data on demographic variables as well as the dietary habits were collected by interview. In addition, serum 25(OH)D3 was measured. The case group was followed up for 36 months to assess RFS. Overall, 358 subjects were included in the study (<i>n</i> = 169 cases, <i>n</i> = 189 controls). The mean levels of 25(OH)D3 were 28.05 ± 18.87 and 28.76 ± 12.99 in cases and controls, respectively (<i>p</i> = .68). VDD was found in 15.4% (<i>n</i> = 26) and 4.2% (<i>n</i> = 8) of the case and control groups, respectively (<i>p</i> < .001). Relapse was seen in 18.34% of patients and vitamin D levels of 20 ng/mL or above were associated with longer RFS (<i>p</i> = .044 by log-rank test). In this study, VDD and VDI amongst children with ALL were significantly higher than controls. In addition, lower levels of Vitamin D were associated with increased risk of relapse.</p>","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847195","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}
引用次数: 0
The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM). 儿科肿瘤学家在产前诊断中的作用:马赛公立医院援助中心(AP-HM)十年回顾性研究。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-08-21 DOI: 10.1080/08880018.2023.2245853
Victoria Min, Stephanie Coze, Claude D'Ercole, Nicoleta Panait, Sabine Sigaudy, Audrey Aschero, Helene Zattara, Florence Bretelle, Gabriel Revon-Riviere, Carole Coze
{"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":null,"pages":null},"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}
引用次数: 0
Psychosocial and mental profile of children with sickle cell disease and their caregivers. 镰状细胞病儿童及其照顾者的心理社会和心理状况。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2024-02-01 DOI: 10.1080/08880018.2023.2261975
Fatma S E Ebeid, Galila Mohamed Mokhtar, Eman Ahmed Zaky, Reham Ibrahim Abdelmageed, Nermeen Mohamed Elkamel, Heba G A Ali
{"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":null,"pages":null},"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}
引用次数: 0
Changing recombinant factor VIII to plasma-derived factor VIII during immune tolerance induction. 在免疫耐受诱导过程中将重组因子 VIII 转换为血浆衍生因子 VIII。
IF 1.2 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-02-24 DOI: 10.1080/08880018.2023.2182853
Maíse Moreira Dias, Ricardo Mesquita Camelo, Laura Peixoto de Magalhães, Letícia Lemos Jardim, Andrea Gonçalves de Oliveira, Rosângela de Albuquerque Ribeiro, Vivian Karla Brognoli Franco, Fábia Michelle Rodrigues de Araújo Callado, Cláudia Santos Lorenzato, Suely Meireles Rezende
{"title":"Changing recombinant factor VIII to plasma-derived factor VIII during immune tolerance induction.","authors":"Maíse Moreira Dias, Ricardo Mesquita Camelo, Laura Peixoto de Magalhães, Letícia Lemos Jardim, Andrea Gonçalves de Oliveira, Rosângela de Albuquerque Ribeiro, Vivian Karla Brognoli Franco, Fábia Michelle Rodrigues de Araújo Callado, Cláudia Santos Lorenzato, Suely Meireles Rezende","doi":"10.1080/08880018.2023.2182853","DOIUrl":"10.1080/08880018.2023.2182853","url":null,"abstract":"","PeriodicalId":19746,"journal":{"name":"Pediatric Hematology and Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10769609","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}
引用次数: 0
Outcome of allogeneic stem cell transplant for Fanconi anemia in India. 印度同种异体干细胞移植治疗范可尼贫血的疗效。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2024-02-10 DOI: 10.1080/08880018.2023.2286971
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
{"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":null,"pages":null},"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}
引用次数: 0
Rare TCF3 variants associated with pediatric B cell acute lymphoblastic leukemia. 与小儿 B 细胞急性淋巴细胞白血病有关的罕见 TCF3 变异。
IF 1.7 4区 医学
Pediatric Hematology and Oncology Pub Date : 2024-01-01 Epub Date: 2023-05-02 DOI: 10.1080/08880018.2023.2201302
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
{"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":null,"pages":null},"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}
引用次数: 0
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