Pub Date : 2025-09-01Epub Date: 2025-07-09DOI: 10.1016/j.phoj.2025.100482
Sarita Verma , Shailaja Mane , Bala Krushna Garud , Aniruddha Bhagwat , Mangesh Londhe , Kala Gnanasekaran Kiruthiga
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 MSH6(+) 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.
{"title":"Ovarian sex cord stromal tumor and malignant mixed germ cell tumor in Constitutional Cancer Mismatch Repair Deficiency Syndrome","authors":"Sarita Verma , Shailaja Mane , Bala Krushna Garud , Aniruddha Bhagwat , Mangesh Londhe , 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":"2025-09-01","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}
Pub Date : 2025-09-01Epub Date: 2025-06-12DOI: 10.1016/j.phoj.2025.100461
Hershavardhini K , Likhitha Bhukya , Abhilasha S
Background
Lineage switch is an uncommon phenomenon at time of relapse and the mechanisms by which this occurs are unclear, but may represent an expanded pre-therapy sub-clone, clonal evolution of the original leukemia, or development of a new clone that may be therapy-related. Here we present two cases which explains the etiology of lineage switch being therapy-related clonal selection.
Case report
Case 1: A 9-year-old male child treated for pre-B ALL at our centre on chemotherapy relapsed with AML in the 8th cycle of the maintenance phase. Case 2: A 6-year-old female diagnosed with pre-B ALL relapsed with AML in the 5th cycle of maintenance therapy. Both of these cases at time of relapse also showed a TP53 gene mutation, confirmed by next generation sequencing.
Conclusion
In this report, we have reported a lineage switch in two patients at time of relapse of pre-B ALL, in association with TP53 mutation with a poor outcome.
{"title":"Lineage switch in B-lineage Acute Lymphoblastic Leukemia at relapse: a report","authors":"Hershavardhini K , Likhitha Bhukya , Abhilasha S","doi":"10.1016/j.phoj.2025.100461","DOIUrl":"10.1016/j.phoj.2025.100461","url":null,"abstract":"<div><h3>Background</h3><div>Lineage switch is an uncommon phenomenon at time of relapse and the mechanisms by which this occurs are unclear, but may represent an expanded pre-therapy sub-clone, clonal evolution of the original leukemia, or development of a new clone that may be therapy-related. Here we present two cases which explains the etiology of lineage switch being therapy-related clonal selection.</div></div><div><h3>Case report</h3><div>Case 1: A 9-year-old male child treated for pre-B ALL at our centre on chemotherapy relapsed with AML in the 8th cycle of the maintenance phase. Case 2: A 6-year-old female diagnosed with pre-B ALL relapsed with AML in the 5th cycle of maintenance therapy. Both of these cases at time of relapse also showed a <em>TP53</em> gene mutation, confirmed by next generation sequencing.</div></div><div><h3>Conclusion</h3><div>In this report, we have reported a lineage switch in two patients at time of relapse of pre-B ALL, in association with <em>T</em><em>P53</em> mutation with a poor outcome.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100461"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144678799","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}
Pub Date : 2025-09-01Epub Date: 2025-06-26DOI: 10.1016/j.phoj.2025.100479
Manjusha Nair
Childhood leukemias are one of the most curable cancers, because of revolutionary developments in the field of pediatric oncology. The diagnosis of leukemia in a child impacts the whole family, with disruption in their routines, behavior, attitudes and relationships, with long-term adverse psychosocial consequences. Comprehensive treatment of cancer involves not only the management of physical symptoms due to cancer but also attention to psychological, socio-cultural and spiritual domains of the child and family as a unit. Pediatric palliative care offers a holistic approach towards supporting the children and families during the entire course of treatment regardless of prognosis, and includes the full spectrum of physical, psychological, social, and spiritual care. Palliative care should go along with active cancer treatment and should be smoothly introduced to patients and their families, so that they do not feel abandoned by their treating teams if curative treatment is unsuccessful and palliative care teams are abruptly involved. Recent evidence proves that integration of palliative care is associated with significant improvements in the quality of life of children affected with cancer and their families, and should begin at diagnosis itself. This review explores the various ways in which palliative care can be incorporated in the treatment of children with haematological malignancies.
{"title":"Palliative care in pediatric Leukemia: The value added to care","authors":"Manjusha Nair","doi":"10.1016/j.phoj.2025.100479","DOIUrl":"10.1016/j.phoj.2025.100479","url":null,"abstract":"<div><div>Childhood leukemias are one of the most curable cancers, because of revolutionary developments in the field of pediatric oncology. The diagnosis of leukemia in a child impacts the whole family, with disruption in their routines, behavior, attitudes and relationships, with long-term adverse psychosocial consequences. Comprehensive treatment of cancer involves not only the management of physical symptoms due to cancer but also attention to psychological, socio-cultural and spiritual domains of the child and family as a unit. Pediatric palliative care offers a holistic approach towards supporting the children and families during the entire course of treatment regardless of prognosis, and includes the full spectrum of physical, psychological, social, and spiritual care. Palliative care should go along with active cancer treatment and should be smoothly introduced to patients and their families, so that they do not feel abandoned by their treating teams if curative treatment is unsuccessful and palliative care teams are abruptly involved. Recent evidence proves that integration of palliative care is associated with significant improvements in the quality of life of children affected with cancer and their families, and should begin at diagnosis itself. This review explores the various ways in which palliative care can be incorporated in the treatment of children with haematological malignancies.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100479"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144634454","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}
Sickle cell disease (SCD) is a monogenic disorder in which a single gene mutation interacts with variable environmental stimuli to modulate the disease's phenotypic expression. Patients living in the eastern region of Saudi Arabia (SA) have a milder phenotype than those living in the southwestern (SW). This phenotypic variability is thought to be related to the difference in genetic haplotypes between the regions. Little is known about the impact of the environment on the natural history of the disease in this country. The aim of this study is to demonstrate the clinical profiles of eastern and SW children with SCD living in the same environment, the eastern region of SA.
Methods
This is a retrospective cross-sectional study of children with SCD over the period from January 2010 to December 2020, who attended the outpatient clinics and the inpatient Pediatric Department, King Fahad Military Medical Complex, Dhahran, SA. The demographic data and different symptoms and complications of the disease were collected from their files and analyzed statistically.
Results
The study included 340 children with SCD: 191 (56.2 %) males and 149 females (43.8 %). There were two groups of patients: SW (246) and eastern (94). Compared with the eastern group, SW children had lower baseline hemoglobin (HB) and hemoglobin F (HBF) levels (8.6 vs. 9.2 gm/dL and 14.4 % vs. 18.4 %, p < .05), respectively, and a higher hemoglobin S (HBS) and mean corpuscular volume (MCV) (69.7 % vs. 65.6 % and 79.3 vs. 75.0, p<.05), respectively. Stroke occurred exclusively in SW children, who also experienced more acute chest syndrome (ACS) (32.1 % vs. 19.1 %, p<.05) and received more blood transfusions (61.8 % vs. 46.8 %, p < 0.05). The prevalence of gallstones (GS), vaso-occlusive crisis (VOC), splenic sequestration crisis (SSC), and hemolytic crises were higher in SW children, but the difference was not statistically significant (p > 0.05). Avascular necrosis of the femoral head (AVN) occurred more in the eastern group, but this also lacked statistical significance (p > 0.05).
Conclusion
Southwestern children with SCD residing in eastern SA exhibit a more severe disease profile than their eastern counterparts. While they share many environmental factors, apparent genetic differences exist. As not all genetic or environmental factors were examined, we propose that this difference in severity is likely, at least partially, attributable to genetic rather than environmental factors.
背景镰状细胞病（SCD）是一种单基因疾病，其中单个基因突变与可变环境刺激相互作用以调节疾病的表型表达。生活在沙特阿拉伯东部地区（SA）的患者比生活在西南部（SW）的患者表型更温和。这种表型变异被认为与区域间遗传单倍型的差异有关。我们对环境对这个国家疾病的自然历史的影响知之甚少。本研究的目的是证明生活在SA东部地区同一环境下的东部和西南地区SCD儿童的临床概况。方法回顾性横断面研究2010年1月至2020年12月期间在达赫兰法赫德国王军事医疗中心门诊和儿科住院的SCD患儿。从患者档案中收集其人口学资料及不同的疾病症状和并发症，并进行统计分析。结果共纳入340例SCD患儿，其中男性191例（56.2%），女性149例（43.8%）。有两组患者：西南组（246）和东部组（94）。与东部组相比，SW组儿童的基线血红蛋白（HB）和血红蛋白F （HBF）水平较低(8.6 vs. 9.2 gm/dL, 14.4% vs. 18.4%, p <；血红蛋白S （HBS）和平均红细胞体积（MCV）分别升高（69.7% vs. 65.6%和79.3% vs. 75.0, p < 0.05）。中风仅发生在SW儿童中，他们也经历了更多的急性胸综合征（ACS） （32.1% vs. 19.1%, p< 0.05）和更多的输血(61.8% vs. 46.8%, p<；0.05)。胆结石（GS）、血管闭塞危象（VOC）、脾隔离危象（SSC）和溶血危象的发生率在SW患儿中较高，但差异无统计学意义(p >；0.05)。股骨头缺血性坏死（AVN）在东部组发生率更高，但也缺乏统计学意义(p >；0.05)。结论西南地区SCD患儿比东部地区SCD患儿病情更为严重。虽然它们有许多共同的环境因素，但存在明显的遗传差异。由于并非所有的遗传或环境因素都被检查过，我们认为这种严重程度的差异可能至少部分归因于遗传因素而不是环境因素。
{"title":"Clinical profile of children with sickle cell disease in the eastern region of Saudi Arabia","authors":"Abdalla Mohamed Zayed , Sulaiman AL-Muhaimeed , Turki AL-Otaibi , Hossam Aldosari , Tahani Alotaibi , Yasser Awadallah , Basheer Ahmed , Shangrila-Joy Ancheta , Ahmed Hassan , Omer AL-Rasheedi","doi":"10.1016/j.phoj.2025.100463","DOIUrl":"10.1016/j.phoj.2025.100463","url":null,"abstract":"<div><h3>Background</h3><div>Sickle cell disease (SCD) is a monogenic disorder in which a single gene mutation interacts with variable environmental stimuli to modulate the disease's phenotypic expression. Patients living in the eastern region of Saudi Arabia (SA) have a milder phenotype than those living in the southwestern (SW). This phenotypic variability is thought to be related to the difference in genetic haplotypes between the regions. Little is known about the impact of the environment on the natural history of the disease in this country. The aim of this study is to demonstrate the clinical profiles of eastern and SW children with SCD living in the same environment, the eastern region of SA.</div></div><div><h3>Methods</h3><div>This is a retrospective cross-sectional study of children with SCD over the period from January 2010 to December 2020, who attended the outpatient clinics and the inpatient Pediatric Department, King Fahad Military Medical Complex, Dhahran, SA. The demographic data and different symptoms and complications of the disease were collected from their files and analyzed statistically.</div></div><div><h3>Results</h3><div>The study included 340 children with SCD: 191 (56.2 %) males and 149 females (43.8 %). There were two groups of patients: SW (246) and eastern (94). Compared with the eastern group, SW children had lower baseline hemoglobin (HB) and hemoglobin F (HBF) levels (8.6 vs. 9.2 gm/dL and 14.4 % vs. 18.4 %, p < .05), respectively, and a higher hemoglobin S (HBS) and mean corpuscular volume (MCV) (69.7 % vs. 65.6 % and 79.3 vs. 75.0, p<.05), respectively. Stroke occurred exclusively in SW children, who also experienced more acute chest syndrome (ACS) (32.1 % vs. 19.1 %, p<.05) and received more blood transfusions (61.8 % vs. 46.8 %, p < 0.05). The prevalence of gallstones (GS), vaso-occlusive crisis (VOC), splenic sequestration crisis (SSC), and hemolytic crises were higher in SW children, but the difference was not statistically significant (p > 0.05). Avascular necrosis of the femoral head (AVN) occurred more in the eastern group, but this also lacked statistical significance (p > 0.05).</div></div><div><h3>Conclusion</h3><div>Southwestern children with SCD residing in eastern SA exhibit a more severe disease profile than their eastern counterparts. While they share many environmental factors, apparent genetic differences exist. As not all genetic or environmental factors were examined, we propose that this difference in severity is likely, at least partially, attributable to genetic rather than environmental factors.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100463"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144605389","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}
Pub Date : 2025-09-01Epub Date: 2025-06-11DOI: 10.1016/j.phoj.2025.100466
Zaibaish Khan, Nishant Verma
Background
With advances in pediatric oncology care, the outcome of children with neuroblastoma has improved. However, in low and middle-income countries (LMICs), the survival rate remains low. This study was conducted because of the paucity of data regarding the clinico-epidemiological profile and outcome of children with neuroblastoma in India.
Methods
Children (<13 y) with neuroblastoma treated at our centre between 2016 and 2022 were retrospectively analyzed.
Results
Over the 7-year study period, 53 children with neuroblastoma were treated at our centre. The age ranged from 1 month to 13 years (male: female ratio: 2.3:1). Adrenal was the most common primary site (58%). The majority of children had stage 4 disease (58.5%). The projected 2-year overall survival is 30%, whereas the event-free survival is 24.5%.
Conclusions
Children with neuroblastoma in our setting presented late with advanced disease. Even with a multidisciplinary approach, the survival rate for patients with advanced disease were still poor.
{"title":"Clinical profile and outcome of children with Neuroblastoma: A single center retrospective study from North India","authors":"Zaibaish Khan, Nishant Verma","doi":"10.1016/j.phoj.2025.100466","DOIUrl":"10.1016/j.phoj.2025.100466","url":null,"abstract":"<div><h3>Background</h3><div>With advances in pediatric oncology care, the outcome of children with neuroblastoma has improved. However, in low and middle-income countries (LMICs), the survival rate remains low. This study was conducted because of the paucity of data regarding the clinico-epidemiological profile and outcome of children with neuroblastoma in India.</div></div><div><h3>Methods</h3><div>Children (<13 y) with neuroblastoma treated at our centre between 2016 and 2022 were retrospectively analyzed.</div></div><div><h3>Results</h3><div>Over the 7-year study period, 53 children with neuroblastoma were treated at our centre. The age ranged from 1 month to 13 years (male: female ratio: 2.3:1). Adrenal was the most common primary site (58%). The majority of children had stage 4 disease (58.5%). The projected 2-year overall survival is 30%, whereas the event-free survival is 24.5%.</div></div><div><h3>Conclusions</h3><div>Children with neuroblastoma in our setting presented late with advanced disease. Even with a multidisciplinary approach, the survival rate for patients with advanced disease were still poor.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100466"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470687","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}
Blinatumomab is effective in achieving disease remission in children with CD-19 positive relapsed/refractory (R/R) B-lineage acute lymphoblastic leukemia (B-ALL).
Case series
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).
Conclusion
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.
{"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":"2025-06-01","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}
Osteoporosis is a significant cause of morbidity with a prevalence of 12 % –60 % even in well-transfused patients of transfusion-dependent Thalassemia (TDT).
Materials and methods
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.
Result
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.
Conclusion
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.
{"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":"2025-06-01","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}
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