{"title":"Use of novel bone turnover markers to assess bone health in children with transfusion dependent thalassemia and its correlation with bone mineral density","authors":"Sana Afsar , Zeeba Zaka-ur-Rab , Sheelu Shafiq Siddiqi , Eeman Naim","doi":"10.1016/j.phoj.2025.04.003","DOIUrl":"10.1016/j.phoj.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Osteoporosis is a significant cause of morbidity with a prevalence of 12 % –60 % even in well-transfused patients of transfusion-dependent Thalassemia (TDT).</div></div><div><h3>Materials and methods</h3><div>73 TDT patients and 32 age and gender-matched healthy controls of 5–10 years of age were included in the study. Bone mineral concentration and density (BMC and BMD) were estimated using dual energy X-ray absorptiometry (DEXA) in both groups. Biochemical bone markers (serum calcium, vitamin D, phosphate, PTH, sclerostin, osteocalcin, BALP, and C-telopeptide) were also assessed in both groups and correlated with BMC and BMD.</div></div><div><h3>Result</h3><div>Mean BMC and BMD at the lumbar spine in cases were found to be significantly lower as compared to controls (p value < 0.0001). The mean serum calcium, phosphate, Vitamin D and PTH levels were within the normal range and comparable in both groups. BALP, Sclerostin, and C-telopeptide levels were significantly higher in thalassemics (p < 0.05). Except for Osteoclacin, none of the bone markers were found to have a significant correlation with BMC and BMD.</div></div><div><h3>Conclusion</h3><div>Children with TDT have poor bone health as compared to their healthy counterparts as documented by DEXA scan and bone turnover markers (BTM). BTM are more sensitive in monitoring the treatment response to osteoporosis. They could be used in clinical practice by having a better understanding of the biological and preanalytical variables and having access to fast, accurate, standardised, and affordable BTM assays.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100450"},"PeriodicalIF":0.0,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144089845","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":"Plasmablastic lymphoma presenting as sino-nasal mass in a child: a case report","authors":"Arjun Kachhwaha, Kavya Ronanki, Prisla Maria Dalton, Nikhil Nagpal, Uttam Kumar Nath","doi":"10.1016/j.phoj.2025.04.002","DOIUrl":"10.1016/j.phoj.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>Plasmablastic lymphoma (PBL) is a very aggressive non-Hodgkin lymphoma that mostly occurs in immunocompromised individuals, especially those affected with human immunodeficiency virus (HIV) infection, and is rarely reported in children.</div></div><div><h3>Case presentation</h3><div>An 8-year-old female case of HIV on highly active antiretroviral therapy (HAART) for the last 2 years presented with epistaxis, and a left sino-nasal mass for the last 6 months and a rapidly progressing left orbital mass for one month. Endoscopic debulking surgery revealed the diagnosis of PBL. She was managed with CODOX-M (cyclophosphamide, vincristine, doxorubicin, high-dose methotrexate) alternating with IVAC (ifosfamide, etoposide, and high-dose cytarabine) for 2 cycles each. The patient achieved complete morphological remission, confirmed on positron emission tomography-computed tomography (PET/CT) and local radiation was then given. HAART was withheld temporarily during the CODOX-M cycle owing to significant drug interaction and liver toxicity but continued during IVAC. The patient has been in remission for the 13 months following completion of therapy.</div></div><div><h3>Conclusion</h3><div>PBL is an aggressive disease that requires intensive chemotherapy. It is challenging to monitor adverse effects and drug-drug interaction while on chemotherapy and HAART together. Close monitoring and follow-up are needed, as over half of patients will relapse post-remission.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100449"},"PeriodicalIF":0.0,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070209","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":"Pelvic mass with isolated supratentorial brain parenchymal metastasis - An unusual presentation of Neuroblastoma: A case report","authors":"Swetha Palla , Richa Jain , Vivek Premshankar Tiwari , Nandita Kakkar","doi":"10.1016/j.phoj.2025.04.001","DOIUrl":"10.1016/j.phoj.2025.04.001","url":null,"abstract":"<div><h3>Background</h3><div>Central nervous system (CNS) metastasis in neuroblastoma (NBL) is rare, typically occurring at the time of disease progression or relapse. Isolated CNS metastasis at diagnosis is even rarer and can present a diagnostic challenge. It is generally associated with a poor prognosis, necessitating aggressive treatment.</div></div><div><h3>Case report</h3><div>We report a case of neuroblastoma with an unusual presentation, featuring a pelvic primary tumor and a solitary brain parenchymal metastasis—both uncommon sites for NBL.</div></div><div><h3>Conclusion</h3><div>Although CNS metastasis is rare, a high index of suspicion with appropriate diagnostic workup is crucial for early diagnosis. The prognosis in these cases is generally poor, requiring a multidisciplinary treatment approach, including chemotherapy, surgery, and radiotherapy, to improve survival outcomes.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100448"},"PeriodicalIF":0.0,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144068628","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":"Blinatumomab-based salvage in relapsed/refractory B-cell acute lymphoblastic leukemia: \"real world\" experience from a single-centre in India","authors":"Vaibhav Chadha, Garima Nirmal, Goutomi Chatterjee, Subhasish Paul, Gurpreet Singh, Nikhil Gupta, Gaurav Kharya","doi":"10.1016/j.phoj.2025.03.002","DOIUrl":"10.1016/j.phoj.2025.03.002","url":null,"abstract":"<div><h3>Background</h3><div>Blinatumomab is effective in achieving disease remission in children with CD-19 positive relapsed/refractory (R/R) B-lineage acute lymphoblastic leukemia (B-ALL).</div></div><div><h3>Case series</h3><div>Blinatumomab was administered to nine patients with R/R B-ALL, of which 8 (88 %) were not in remission post-salvage chemotherapy. Seven of eight (87.5 %) patients attained morphological remission, and 5/8 (62.5 %) had measurable residual disease response following the first cycle. Three received a second cycle; 2 were non-responsive, and 1 had progressive disease during therapy. Cytokine release syndrome Grade 3 was seen in 2/9 (22 %) patients. Seven (78 %) underwent hematopoietic stem cell transplant. At a median follow-up of 650 days, the overall survival and progression-free survival of the cohort was 55.6 % (±16.6).</div></div><div><h3>Conclusion</h3><div>Our case series emphasizes the feasibility and ease of administration of blinatumomab with minimal toxicity, and efficacy similar to international reports in a resource-limited setting.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100447"},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105887","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}
Shruti Kakkar , Priyanka Dewan , Sukhmani Sidhu , Evani Jain , Anirudh Jain , Praveen C. Sobti
{"title":"A survey of education and employment status of patients with transfusion-dependent thalassemia from a low-middle-income country","authors":"Shruti Kakkar , Priyanka Dewan , Sukhmani Sidhu , Evani Jain , Anirudh Jain , Praveen C. Sobti","doi":"10.1016/j.phoj.2025.03.001","DOIUrl":"10.1016/j.phoj.2025.03.001","url":null,"abstract":"<div><h3>Background</h3><div>The literacy rate in India is nearly 77 % with a school dropout rate of 16.7 % at the secondary level. Patients with transfusion-dependent thalassemia (TDT) face great difficulties in continuing education due to repeated hospital visits, the presence of co-morbidities, and psychosocial issues. The survey was undertaken to assess the educational and employment status of adult patients with TDT.</div></div><div><h3>Material and methods</h3><div>A survey was conducted amongst patients with TDT >18 years of age registered at the Thalassemia Day Care Centre (TDCC) in our hospital after obtaining informed consent. Demographic details along with education and employment achievements of patients were recorded. The socioeconomic status (SES) of the family was assessed using a modified Kuppuswamy scale for the year 2022. The education and employment status were correlated with age, sex, residence, education level of parents, and SES.</div></div><div><h3>Results</h3><div>A total of 117 patients were enrolled in the study with a mean age of 24.7 ± 6.13 years and M: F ratio of 2.1:1. 19.7 % of participants resided in rural areas. 38.6 % of participants had completed graduation and 19.7 % completed postgraduate/professional degrees in various fields. Nearly half (52.4 %) of patients were employed and financially independent. The education and employment status positively correlated with age, female sex, education of parents, and residence in urban areas.</div></div><div><h3>Conclusion</h3><div>Patients with TDT can achieve their personal and professional goals if given appropriate opportunities.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100446"},"PeriodicalIF":0.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105886","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 rare case report of hereditary hyperferritinemia cataract syndrome","authors":"Ariadni Neofytou, Anthie Damianaki, Lydia Kossiva","doi":"10.1016/j.phoj.2024.11.107","DOIUrl":"10.1016/j.phoj.2024.11.107","url":null,"abstract":"<div><h3>Background</h3><div>Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare genetic disease caused by a mutation in the ferritin light chain gene (<em>FTL</em> gene). It is characterized by hyperferritinemia without tissue iron overload and bilateral early-onset cataracts.</div></div><div><h3>Case report</h3><div>An otherwise healthy 13-year-old girl was evaluated for persistent hyperferritinemia (1437 ng/ml). Her medical history and clinical examination were normal. The transferrin saturation was normal (28.5 %, normal range: 20–40 %), and secondary causes of hyperferritinemia were excluded. An ophthalmological assessment revealed mild opacity of both lenses. Targeted molecular testing revealed a c.-161C > G mutation of the FTL gene in heterozygosity, confirming the diagnosis of HHCS. Considering the patient's negative family history, this may be a <em>de novo</em> mutation.</div></div><div><h3>Conclusion</h3><div>In patients with early onset cataracts, ferritin levels should be checked and vice versa. An ophthalmological evaluation should be done for unexplained hyperferritinemia. Timely diagnosis prevents unnecessary tests and inappropriate therapeutic intervention.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 1","pages":"Pages 17-19"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143683015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Outcome and recurrence patterns of low-risk gonadal germ cell tumors in children and adolescents","authors":"Tiphaine Courtel , Sylvie Chabaud , Daniel Orbach , Hélène Sudour-Bonnange , Cecile Verité , Angelique Rome , Cecile Dumesnil , Brice Fresneau , Estelle Thebaud , Marleen Renard , Aissatou Barry , Frederic Hameury , Frederique Dijoud , Cecile Faure Conter","doi":"10.1016/j.phoj.2025.02.002","DOIUrl":"10.1016/j.phoj.2025.02.002","url":null,"abstract":"<div><div>Pediatric low-risk gonadal germ cell tumors (LR-GCTs) are typically managed with close surveillance following surgery alone. However, the patterns of relapse and prognostic factors for relapse remain insufficiently understood. We reviewed 72 patients under 19 years old diagnosed with low-risk ovarian (OGCT) or testicular (TGCT) GCT between May 27, 2014, and December 31, 2022, from the TGM13-observatory (EudraCT 2013-004039-60). Among 30 OGCT (median age 13 years), 15 were dysgerminomas and 15 were non-dysgerminomatous OGCT (NDOGCT), with 10 patients having incomplete abdominal staging. Eleven relapses were observed, nine of which were locoregional. The three-year progression-free survival (PFS) was 73 % (95 % CI: 44–89) for dysgerminomas and 53 % (95 % CI: 26–74) for NDOGCT (p = 0.22). Among the 42 testicular tumors (median age 3 years), all but one were NSGCTs. Ten relapses occurred, resulting in one death. The three-year PFS for testicular GCTs was 76 % (95 % CI:59–86). Relapse patterns differed by age: in toddlers, relapses predominantly occurred in the lungs, while in adolescents, relapses were primarily in the para-aortic lymph nodes. The median time to relapse was six months. No significant prognostic factors for relapse were identified, including older age (>11 years), incomplete staging for OGCT, and the presence of lymphovascular invasion or embryonal carcinoma for TGCT. Survival after relapse remains excellent, and further research with a larger sample of children is needed to better identify risk factors for relapse in pediatric LR-GCTs.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 1","pages":"Pages 51-56"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143869655","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":"Pediatric mature B-cell non-hodgkin lymphoma in India: A retrospective multicenter pooled analysis of treatment approaches and outcomes","authors":"Nirmalya Roy Moulik , Sameer Bakhshi , Shripad Banavali , Venkatraman Radhakrishnan , Amita Trehan , Anshul Gupta , Niharendu Ghara , Rachna Seth , Ramandeep Singh Arora","doi":"10.1016/j.phoj.2024.11.104","DOIUrl":"10.1016/j.phoj.2024.11.104","url":null,"abstract":"<div><h3>Background</h3><div>Published data on outcomes of pediatric mature B-cell non-Hodgkin lymphoma (B-NHL) from India is limited and difficult to interpret due to small sample size and non-uniform treatment protocols. This study aims to do a pooled analysis of published patient data from multiple centers across India to provide a clearer understanding of survival rates and treatment-related toxicities with respect to the treatment protocols in this population.</div></div><div><h3>Methods</h3><div>A pooled analysis was conducted of patient data from 505 children with mature B-NHL, including Burkitt lymphoma (n = 395), diffuse large B-cell lymphoma (DLBCL, n = 52), and other subtypes (n = 58), treated from 2000 to 2022 at seven major cancer centers in India. Outcomes assessed were grade 3/4 toxicities, toxic deaths, relapse/progression, and survival rates.</div></div><div><h3>Results</h3><div>Most patients (401/505) presented with advanced disease; bone marrow and CNS involvement were observed in 13.9 % and 6.9 % of cases, respectively. Treatment protocols primarily included LMB (n = 208), BFM (n = 191), and MCP (n = 61). Grade 3/4 toxicities were reported in 79.2 % of patients, with higher rates observed with LMB protocol (92.1 %) compared to BFM (70.8 %) and MCP (70.1 %) (p < 0.001). Toxic death rates were similar across protocols. Overall survival (OS) and event-free survival (EFS) at a median follow-up of 17 months were 69.4 ± 2.2 % and 64.9 ± 2.2 %, respectively, with no significant differences in relapse/progression rates or stage-specific OS between protocols (p = 0.28 and 0.51).</div></div><div><h3>Conclusions</h3><div>This pooled analysis shows that although treatment-related toxicities differ by protocol, overall survival outcomes were similar across the LMB, BFM, and MCP regimens, despite being much lower than those reported from high income countries. Uniform standardized protocols may further improve outcomes for pediatric B-NHL in India.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 1","pages":"Pages 33-40"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}