Pediatric Hematology Oncology Journal最新文献

{"title":"Low-dose everolimus therapy in a neonate with multiple cardiac rhabdomyoma","authors":"Vidya k. Saurabh , Pradeep Jain , Lalit M. Malviya , Shruti Pandey , Monica Lazarus","doi":"10.1016/j.phoj.2025.100483","DOIUrl":"10.1016/j.phoj.2025.100483","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100483"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145094770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical teratoid rhabdoid tumor of lumbar spine in a child, masquerading as ependymoma","authors":"Swagatika Samal , Ajitesh Avinash , Subhasis Mishra , Saroj Prasad Panda , Soubhagya Ranjan Tripathy","doi":"10.1016/j.phoj.2025.100488","DOIUrl":"10.1016/j.phoj.2025.100488","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100488"},"PeriodicalIF":0.0,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144893108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Growth patterns in children and adolescents treated for acute lymphoblastic leukaemia","authors":"Krisha Savla ,&nbsp;Maya Prasad ,&nbsp;Shyam Srinivasan ,&nbsp;Gaurav Narula ,&nbsp;Chetan Dhamne ,&nbsp;Nirmalya Roy Moulik ,&nbsp;Akanksha Chichra ,&nbsp;Shripad Banavali","doi":"10.1016/j.phoj.2025.100491","DOIUrl":"10.1016/j.phoj.2025.100491","url":null,"abstract":"<div><h3>Background</h3><div>Children who have completed treatment for acute lymphoblastic leukaemia (ALL) are known to have impaired growth and nutrition, which in turn leads to chronic cardiometabolic conditions and lower quality of life. This study aimed to assess the prevalence and risk factors for growth impairment and abnormal nutritional status.</div></div><div><h3>Methodology</h3><div>Children 1–15 years with ALL treated on the Indian Collaborative Childhood Leukaemia group (ICiCLe) protocol were enrolled and retrospectively reviewed. Those who were assessed at all four time points: diagnosis, end of induction, start of maintenance, and end of treatment were included in the study. Nutritional status was defined based on weight-for-age, weight-for-height, and body mass index-for-age as per World Health Organization criteria. Short stature was defined as height-for-age less than 5th percentile.</div></div><div><h3>Results and discussion</h3><div>This study included 208 children with a median age of 4.9 years out of a cohort of 1750 children. The prevalence of undernutrition, normal nutrition and overnutrition at diagnosis and end of treatment were 37.5 %, 26.9 %, 2.4 % and 5.3 %, 57.2 %, 6.7 % respectively (p &lt; 0.001). The prevalence of short stature increased from 29.5 % at diagnosis till 45 % at end of treatment (p = 0.02). Predictors for developing obesity at end of treatment were over nourished status at start of maintenance (OR 18.869, 95 % CI 5.0–70.99, p &lt; 0.001), high risk ALL (OR 3.077, 95 % CI 0.78–12.09, p = 0.1) and age &lt;5 years at diagnosis (OR 2.185, 95 % CI 0.77–6.15, p = 0.14). Predictors for short stature at end of treatment were height &lt;5th percentile at start of maintenance (OR 14.230, 95 % CI 2.19–92.20, p = 0.005) and height 5-10th percentile at start of maintenance (OR 7.69, 95 % CI 1.72–34.25, p = 0.007).</div></div><div><h3>Conclusion</h3><div>Children undergoing treatment for acute lymphoblastic leukaemia are at risk for both growth failure, and the development of obesity. Our findings highlight the importance of regular monitoring of height and weight during and after therapy. While we were only able to capture complete data on 12% of eligible patients for a variety of reasons, we feel that all children on treatment for ALL should be strongly encouraged to adopt a healthy and nutritious diet and incorporate physical activity in their daily routine.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 4","pages":"Article 100491"},"PeriodicalIF":0.0,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144893275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approach to central nervous system leukemia in children from low-middle income countries (LMICs)","authors":"Malini Maya ,&nbsp;Swaminathan Keerthivasagam ,&nbsp;Shyam Srinivasan ,&nbsp;Priya Mary Jacob ,&nbsp;Guruprasad Chellappan Sojamani ,&nbsp;Kalasekhar Vijayasekharan","doi":"10.1016/j.phoj.2025.100480","DOIUrl":"10.1016/j.phoj.2025.100480","url":null,"abstract":"<div><div>Central nervous system (CNS) leukemia remains a diagnostic and therapeutic challenge associated with treatment failure in children. CNS-directed therapy intensification to improve survival outcomes results in long-term neurocognitive deficits in many survivors due to the neurologic insult acquired in the developing brain. With the improved outcomes of childhood leukemia in high income countries, attempts are being made to reduce long-term morbidity without compromising survival outcome. In the near future, immunotherapy and targeted agents might play an increased role in improving childhood leukemia survival with lesser long-term morbidity. Due to the paucity of published literature in low and middle income countries (LMIC), there is a need for streamlining the management of CNS leukemia in children in this setting. This review summarises the available evidences in the management of pediatric CNS leukemia, and discusses practical aspects pertaining to diagnosis and treatment in an LMIC setting.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 4","pages":"Article 100480"},"PeriodicalIF":0.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144826398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthcare perceptions on surgical management for children diagnosed with neuroblastoma in South Africa","authors":"Jaques van Heerden ,&nbsp;Mariana Kruger ,&nbsp;Tonya Marianne Esterhuizen ,&nbsp;Gita Naidu ,&nbsp;Derek Stanley Harrison","doi":"10.1016/j.phoj.2025.100487","DOIUrl":"10.1016/j.phoj.2025.100487","url":null,"abstract":"<div><h3>Background</h3><div>Surgical management in neuroblastoma predicts survival and determines morbidity globally but is not standardized in South Africa. We evaluated South African healthcare workers’ perceptions of surgical management of neuroblastoma.</div></div><div><h3>Methods</h3><div>A national survey on neuroblastoma surgical practices were developed by Delphi method and distributed to medical and surgical healthcare workers managing children diagnosed with neuroblastoma.</div></div><div><h3>Results</h3><div>Thirty-five surveys were completed: 17 (49 %) were medical and 18 (51 %) were surgical disciplines. The median experience was 7.5 years (range 1–22 years). Twenty (57 %) respondents managed less than 5 cases/year. Twenty-seven (77 %) dealt with mainly metastasized tumours. The majority of tumours had more than one image-defined risk factor at presentation. Sixteen (46 %) stated that their decision to perform surgery was influenced by gaining metastatic complete remission , next followed by vascular encasement (25 %).</div><div>Barriers to surgery were a lack of neuroblastoma-specific surgical skills (77 %), tumour operability (50 %) and operating time (21 %). Roughly half i.e. 49 % (n = 17) of respondents were in favour of centralizing neuroblastoma surgical management. Twenty-six (74 %) reported surgical management as part of a multi-disciplinary team until patients were discharged from intensive care. The number of years of a respondent's experience influenced the degree of resection achieved in HR tumours (<em>p</em> = 0.021).</div></div><div><h3>Conclusions</h3><div>Non-standardized surgical practice in neuroblastoma management exists in South Africa. Optimizing surgical resources, management and skills may improve surgical outcomes.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100487"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemolytic anemia in a child with myelodysplastic syndrome t(6;9)(p22;q34.1)/DEK-NUP214: A case report","authors":"Razan Sharaf ,&nbsp;Usra Ghanem ,&nbsp;Tala Sulaiman ,&nbsp;Mohammad Aqel ,&nbsp;Hani Saleh","doi":"10.1016/j.phoj.2025.100486","DOIUrl":"10.1016/j.phoj.2025.100486","url":null,"abstract":"<div><h3>Background</h3><div>Myelodysplastic syndrome (MDS) is a rare childhood syndrome that accounts for less than 5 % of all pediatric hematologic malignancies. MDS is associated with impaired hematopoiesis with resultant thrombocytopenia, cytopenia, and/or anemia. Work-up includes complete blood count, peripheral blood smear, bone marrow study, and cytogenetic studies. Hematopoietic stem cell transplantation is curative for most patients with MDS.</div></div><div><h3>Case report</h3><div>A 3-year-old female presented with three months of anemia and jaundice, and had positive cold agglutinin and a history of hemolytic anemia with no response to steroid and cyclosporine therapy. This prompted further investigation with bone marrow testing that eventually revealed t(6; 9)(p22; q34.1)/<em>DEK-NUP214</em> with MDS.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenges of MDS in children and emphasizes the importance of considering MDS in the differential diagnosis of hemolytic anemia of unusual course. High clinical suspicion can prompt early diagnosis, which can potentially improve survival, and decrease morbidity and mortality.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100486"},"PeriodicalIF":0.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A review of cytogenetic and molecular features in pediatric acute myeloid leukemia","authors":"Jun Yen Ng ,&nbsp;Rakhee Kar ,&nbsp;Nalini Pati","doi":"10.1016/j.phoj.2025.100481","DOIUrl":"10.1016/j.phoj.2025.100481","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) accounts for approximately 18 % of pediatric leukemia. While the outcome has improved steadily over the years, various challenges remain pertinent, including a relapse rate of approximately 30 %. The evaluation of cytogenetic and molecular abnormalities is important for the diagnosis and treatment of AML in the modern era. However, there are key differences between pediatric and adult AML that are important to recognise due to their practical implications for patient management. In this review, we discuss the cytogenetic and molecular features of pediatric AML and their relevance to the diagnosis, prognostication, and treatment of the condition.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100481"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144694747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mass spectrometry proteomic profiling and treatment response in pediatric B-cell acute lymphoblastic leukemia: a pilot study","authors":"Jorge Antonio Bermudez Lugo ,&nbsp;Marlet Martínez Archundia ,&nbsp;Jose Correa-Basurto ,&nbsp;Horacio Reyes-Vivas ,&nbsp;Jesús Antonio Oria-Hernández ,&nbsp;Juan Francisco Martínez-Aguilar ,&nbsp;Hilda Sánchez-Vidal ,&nbsp;Marta Margarita Zapata-Tarres","doi":"10.1016/j.phoj.2025.100484","DOIUrl":"10.1016/j.phoj.2025.100484","url":null,"abstract":"<div><h3>Background</h3><div>In Mexico, cancer represents the leading cause of pediatric death by disease, with over half the cases due to acute lymphoblastic leukemia (ALL). Despite the use of clinical, biochemical, immunological, and genetic variables for risk stratification, minimal residual disease (MRD) remains one of the strongest predictor of outcomes. Although Mass spectrometry-based proteomic studies are growing in the oncology field, pediatric ALL is yet to benefit from it. This pilot study aims to describe the lymphoblast's protein expression profile obtained through LC-MS/MS shotgun proteomics from four pediatric patients with treatment-naïve B-cell ALL and compare it according to their response to remission induction treatment measured by MRD.</div></div><div><h3>Material and methods</h3><div>Protein isolates from bone marrow were analyzed using LC-MS/MS, and differentially expressed proteins were analyzed via Ingenuity Pathway Analysis. Patients were grouped according to MRD levels (good response: &lt;0.01, slow-suboptimal response: 0.01–0.99) at the end of induction treatment.</div></div><div><h3>Results</h3><div>Between 880 and 1724 proteins were identified per patient, with 631 common across all cases. Protein expression showed 36 upregulated and 63 downregulated elements in the suboptimal response group; several of these belonging to pathways that drive cell cycle activation through activation of MYC, YAP1, and SRF.</div></div><div><h3>Conclusion</h3><div>The proteomic characterization in these four Mexican pediatric B-ALL patients showed that the expression pattern might be more similar in those with the same type of MRD response. However a large number of subjects would be needed to draw any meaningful conclusion. In addition, MS-proteomic studies could be useful to detect proteins with clinical use as diagnostic biomarkers, and to identify drug targets in the context of precision medicine.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100484"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ovarian sex cord stromal tumor and malignant mixed germ cell tumor in Constitutional Cancer Mismatch Repair Deficiency Syndrome","authors":"Sarita Verma ,&nbsp;Shailaja Mane ,&nbsp;Bala Krushna Garud ,&nbsp;Aniruddha Bhagwat ,&nbsp;Mangesh Londhe ,&nbsp;Kala Gnanasekaran Kiruthiga","doi":"10.1016/j.phoj.2025.100482","DOIUrl":"10.1016/j.phoj.2025.100482","url":null,"abstract":"<div><div>Ovarian tumours in children may be associated with cancer predisposition syndromes. We report the case of a 10-year-old girl presenting with acute abdominal pain and hypovolemic shock. She exhibited multiple café-au-lait spots, a tuft of hair on her sacrum, convergent strabismus, microcephaly, and low-set ears with both sensorineural and conductive hearing loss. Diagnosis revealed a large ruptured malignant-mixed germ cell tumour of the left ovary with predominance of yolk sac components and a small sex cord-stromal tumour in the right ovary. Whole exome sequencing detected an <em>MSH6(+)</em> mutation consistent with constitutional-cancer-mismatch-repair-deficiency syndrome. Immunohistochemical analysis showed loss of MSH6 protein expression, indicating presence of both germline and somatic mutations in MSH6. Deficiency of Mismatch Repair (MMR) proteins is known to lead to resistance to conventional chemotherapy, while remaining vulnerable to immunotherapy, as documented in adult studies. However, our patient was treated as per a standard Childrens Oncology Group (COG) protocol with chemotherapy, and has been well till date, 2 years post-completion of treatment. Prevalence of microsatellite instability (MSI) in paediatric germ cell tumours has not been extensively researched and its treatment implications remain unclear.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100482"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aberrant antigen expression in children with acute lymphoblastic leukemia","authors":"Likhitha Bhukaya ,&nbsp;Jainish Shukla ,&nbsp;K. Hershavardhini ,&nbsp;S. Abhilasha","doi":"10.1016/j.phoj.2025.100485","DOIUrl":"10.1016/j.phoj.2025.100485","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100485"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144686571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}