Pub 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":"2025-07-09","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}
Pub 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":"2025-06-26","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}
Pub Date : 2025-06-14DOI: 10.1016/j.phoj.2025.100467
Debasish Sahoo, Sonali Mohapatra
Improvement in outcomes of pediatric acute lymphoblastic leukemia (ALL) has been a success story with survival approaching 90% in various studies. However, ALL in infants, though rare, is an exception, with its distinct aggressive disease biology, molecular genetics and poor response to therapy with an excess of relapses. It characteristically presents with hyperleukocytosis, bulky disease and a higher incidence of central nervous system (CNS) and cutaneous involvement. Immunophenotyping is notable for CD10 negativity, and higher co-expression of various myeloid markers indicating a primitive hematopoietic cell of origin. Rearrangement in KMT2A gene i.e. KMTA-r (previously MLL), located on 11q23, is central to disease pathophysiology, playing a key role in epigenetic modification that drives leukemogenesis, and is the strongest negative prognostic marker in this subgroup. Hyperleukocytosis with total leukocyte count exceeding 3,00,000/mm3, younger age group (<6 months age), poor prednisolone response and poor MRD response are other important negative prognostic markers in infant ALL. Despite highly intensive therapy and hematopoietic stem cell transplantation (HSCT), the incidence of relapse remains exceedingly high. Significant treatment related mortality and morbidity remain other barriers to successful outcomes. Recently, the use of blinatumomab has shown promising results in infant ALL and is being integrated into chemotherapy backbones in various trials e.g. Interfant 06. Early integration of immunotherapy including blinatumomab and chimeric antigen receptor (CAR) T cells, and other novel drugs in larger collaborative trials will be key in improving the prognosis in this population.
{"title":"Infant acute lymphoblastic leukemia: a view from India","authors":"Debasish Sahoo, Sonali Mohapatra","doi":"10.1016/j.phoj.2025.100467","DOIUrl":"10.1016/j.phoj.2025.100467","url":null,"abstract":"<div><div>Improvement in outcomes of pediatric acute lymphoblastic leukemia (ALL) has been a success story with survival approaching 90% in various studies. However, ALL in infants, though rare, is an exception, with its distinct aggressive disease biology, molecular genetics and poor response to therapy with an excess of relapses. It characteristically presents with hyperleukocytosis, bulky disease and a higher incidence of central nervous system (CNS) and cutaneous involvement. Immunophenotyping is notable for CD10 negativity, and higher co-expression of various myeloid markers indicating a primitive hematopoietic cell of origin. Rearrangement in <em>KMT2A</em> gene i.e. <em>KMTA</em>-r (previously <em>MLL</em>), located on 11q23, is central to disease pathophysiology, playing a key role in epigenetic modification that drives leukemogenesis, and is the strongest negative prognostic marker in this subgroup. Hyperleukocytosis with total leukocyte count exceeding 3,00,000/mm<sup>3</sup>, younger age group (<6 months age), poor prednisolone response and poor MRD response are other important negative prognostic markers in infant ALL. Despite highly intensive therapy and hematopoietic stem cell transplantation (HSCT), the incidence of relapse remains exceedingly high. Significant treatment related mortality and morbidity remain other barriers to successful outcomes. Recently, the use of blinatumomab has shown promising results in infant ALL and is being integrated into chemotherapy backbones in various trials e.g. Interfant 06. Early integration of immunotherapy including blinatumomab and chimeric antigen receptor (CAR) T cells, and other novel drugs in larger collaborative trials will be key in improving the prognosis in this population.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100467"},"PeriodicalIF":0.0,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522744","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 : 2025-06-12DOI: 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":"2025-06-12","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}
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":"2025-06-12","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 : 2025-06-11DOI: 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":"2025-06-11","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}
Pub Date : 2025-06-06DOI: 10.1016/j.phoj.2025.100458
Sujata Sharma, Lekha Parikh, Prachi Pandhare
Background
Non-transfusion-dependent thalassemia (NTDT) patients can be at risk of iron overload, despite not being transfused frequently. Iron overload is a major risk factor that increases morbidity and mortality in non-transfusion dependent thalassemia patients.
Aim
This study looked at the prevalence of iron overload in NTDT patients and evaluated the relationship between serum ferritin and calculated liver iron concentration (LIC) based on T2∗MRI.
Methods
We conducted an observational and retrospective study in a tertiary care centre of the metropolitan country of India from January 2019 to November 2020. We evaluated the prevalence of iron overload in NTDT patients, the relationship between number of PRC transfusions, serum ferritin levels, hepatic and cardiac iron as measured by validated R2 magnetic resonance imaging with T2∗ MRI values.
Results & discussion
Total of 56 NTDT patients were 8–12 years old with a mean age of 9.38 years. Majority of our study participants were beta thalassemia intermedia 45 (80.4 %) followed by HbE/β thalassemia 7(12.5 %) and 2 each (3.6 %) as HbH disease and Delta Beta Thalassemia. Magnetic resonance Imaging (T2∗ MRI) was done in 56 patients. Of these 35(62.5 %) had hepatic overload and 9 (16.1 %)) had cardiac overload. The mean serum ferritin level was 556.93 ng/ml. There was a negative correlation between the number of PRC transfusion, and liver T2∗ MRI values (r = −0.209, P = 0.123) as well as cardiac T2∗MRI T2∗ (r = −0.231, P = 0.087). Since T2∗ MRI values are inversely proportional to iron overload, the higher the number of PRC transfusions, the lower were the T2∗ values. We found that liver iron overload was present in half of the participants (n = 17, 53.13 %) even those who were never transfused or received less than 10 units.
Conclusion
Our study shows that there is a high prevalence of liver iron overload in NTDT patients. Serum Ferritin is an unreliable indicator, whereas T2∗ MRI values are better for assessing iron overload in NTDT patients.
{"title":"Iron overload in non-transfusion-dependent thalassemia- experience at a tertiary care center in India","authors":"Sujata Sharma, Lekha Parikh, Prachi Pandhare","doi":"10.1016/j.phoj.2025.100458","DOIUrl":"10.1016/j.phoj.2025.100458","url":null,"abstract":"<div><h3>Background</h3><div>Non-transfusion-dependent thalassemia (NTDT) patients can be at risk of iron overload, despite not being transfused frequently. Iron overload is a major risk factor that increases morbidity and mortality in non-transfusion dependent thalassemia patients.</div></div><div><h3>Aim</h3><div>This study looked at the prevalence of iron overload in NTDT patients and evaluated the relationship between serum ferritin and calculated liver iron concentration (LIC) based on T2∗MRI.</div></div><div><h3>Methods</h3><div>We conducted an observational and retrospective study in a tertiary care centre of the metropolitan country of India from January 2019 to November 2020. We evaluated the prevalence of iron overload in NTDT patients, the relationship between number of PRC transfusions, serum ferritin levels, hepatic and cardiac iron as measured by validated R2 magnetic resonance imaging with T2∗ MRI values.</div></div><div><h3>Results & discussion</h3><div>Total of 56 NTDT patients were 8–12 years old with a mean age of 9.38 years. Majority of our study participants were beta thalassemia intermedia 45 (80.4 %) followed by HbE/β thalassemia 7(12.5 %) and 2 each (3.6 %) as HbH disease and Delta Beta Thalassemia. Magnetic resonance Imaging (T2∗ MRI) was done in 56 patients. Of these 35(62.5 %) had hepatic overload and 9 (16.1 %)) had cardiac overload. The mean serum ferritin level was 556.93 ng/ml. There was a negative correlation between the number of PRC transfusion, and liver T2∗ MRI values (r = −0.209, P = 0.123) as well as cardiac T2∗MRI T2∗ (r = −0.231, P = 0.087). Since T2∗ MRI values are inversely proportional to iron overload, the higher the number of PRC transfusions, the lower were the T2∗ values. We found that liver iron overload was present in half of the participants (n = 17, 53.13 %) even those who were never transfused or received less than 10 units.</div></div><div><h3>Conclusion</h3><div>Our study shows that there is a high prevalence of liver iron overload in NTDT patients. Serum Ferritin is an unreliable indicator, whereas T2∗ MRI values are better for assessing iron overload in NTDT patients.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100458"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470686","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 : 2025-06-04DOI: 10.1016/j.phoj.2025.100464
Yaoping Zhang , Stelios Kasikis , Susannah Vanderpool , Paula Ogrodnik , Nikolaos Spyrou , Margaret R. Hammerschlag
Background
Acute chest syndrome (ACS) is a common sickle cell disease (SCD) complication. Infectious pathogens are the most common causes of ACS followed by pulmonary infarction and fat embolism. Infectious pathogens responsible for ACS include viruses and atypical bacteria (Mycoplasma pneumoniae and Chlamydia pneumoniae). The implementation of the BioFire® FilmArray® Respiratory Pathogen Panel (RPP) at our institution since 2017 provided an opportunity to more accurately investigate the infectious pathogens responsible for ACS in children with SCD.
Material and methods
This study was a single-center retrospective review of electronic medical records of children with SCD, less than 21 years of age, who were admitted with a diagnosis of ACS.
Results
Nighty-five episodes of ACS in 64 patients admitted to our hospital from January 2013 to March 2021 were identified. Episodes were assigned to pre-RPP (n = 50) and RPP (n = 45) cohorts. Within the RPP cohort, an infectious etiology was identified in 44 % (20/45) of episodes compared to 18.75 % (3/16) of the pre-RPP cohort. The two most common pathogens identified were rhino/enterovirus and influenza, found in 11 % of episodes each. M. pneumoniae was identified in only 2 episodes in the RPP cohort.
Conclusion
Implementation of the RPP enabled more accurate identification of the causes of ACS. The majority of cases were due to viral infections. Pneumococcal and M. pneumoniae infections were uncommon. Based on these findings we suggest that empiric antibiotic be limited to ceftriaxone. Azithromycin should only be used if the RPP is positive for M. pneumoniae or C. pneumoniae.
{"title":"Impact of a respiratory panel on the diagnosis and management of acute chest syndrome in pediatric patients with sickle cell disease: A single-center retrospective study","authors":"Yaoping Zhang , Stelios Kasikis , Susannah Vanderpool , Paula Ogrodnik , Nikolaos Spyrou , Margaret R. Hammerschlag","doi":"10.1016/j.phoj.2025.100464","DOIUrl":"10.1016/j.phoj.2025.100464","url":null,"abstract":"<div><h3>Background</h3><div>Acute chest syndrome (ACS) is a common sickle cell disease (SCD) complication. Infectious pathogens are the most common causes of ACS followed by pulmonary infarction and fat embolism. Infectious pathogens responsible for ACS include viruses and atypical bacteria (<em>Mycoplasma pneumoniae</em> and <em>Chlamydia pneumoniae</em>). The implementation of the BioFire® FilmArray® Respiratory Pathogen Panel (RPP) at our institution since 2017 provided an opportunity to more accurately investigate the infectious pathogens responsible for ACS in children with SCD.</div></div><div><h3>Material and methods</h3><div>This study was a single-center retrospective review of electronic medical records of children with SCD, less than 21 years of age, who were admitted with a diagnosis of ACS.</div></div><div><h3>Results</h3><div>Nighty-five episodes of ACS in 64 patients admitted to our hospital from January 2013 to March 2021 were identified. Episodes were assigned to pre-RPP (n = 50) and RPP (n = 45) cohorts. Within the RPP cohort, an infectious etiology was identified in 44 % (20/45) of episodes compared to 18.75 % (3/16) of the pre-RPP cohort. The two most common pathogens identified were rhino/enterovirus and influenza, found in 11 % of episodes each. <em>M. pneumoniae</em> was identified in only 2 episodes in the RPP cohort.</div></div><div><h3>Conclusion</h3><div>Implementation of the RPP enabled more accurate identification of the causes of ACS. The majority of cases were due to viral infections. Pneumococcal and <em>M. pneumoniae</em> infections were uncommon. Based on these findings we suggest that empiric antibiotic be limited to ceftriaxone. Azithromycin should only be used if the RPP is positive for <em>M. pneumoniae</em> or <em>C. pneumoniae</em>.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100464"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144335916","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}
When administering high dose Methotrexate (HD-MTX), in children with high-risk Acute lymphoblastic leukemia (ALL), serial monitoring of serum Methotrexate (MTX) levels till they are less than <0.4 μmol/L at 42 hrs is regarded as standard of care in avoiding HD-MTX toxicity. We studied the feasibility of administering HD-MTX in children with high-risk Acute lymphoblastic leukemia (ALL), with a single monitoring level of serum MTX level at 72 h.
Materials and methods
This is a retrospective study from patients treated at the Department of Paediatric Oncology from January to December 2019 at a regional cancer centre in South India. Patients aged <15 years with diagnosis of B (high risk) or T lineage Acute lymphoblastic leukemia (ALL) and Lymphoblastic Non-Hodgkin lymphoma (NHL) who received HDMTX were included in the study. A solitary serum MTX level was done at 72 h after starting the infusion. The most common side effects of HD-MTX were noted and correlated with age, sex, grade of nutrition, dose of Methotrexate (3g versus 5g) and Methotrexate levels at 72 h (<0.05 versus >/ = 0.05 μmol/L). Data was entered in excel sheet and analyzed by appropriate statistical tests. P < 0.05 was taken as significant.
Results
Children who received higher dose of MTX (5g/m2) were found to have significantly more episodes of diarrhea, thrombocytopenia and hyperbilirubinemia as opposed to 3g/m2 (p = 0.02,0.043 and 0.035 respectively). There was no significant difference in clinical toxicities in those whose 72-h serum MTX levels were </>0.05 μmol/L. However, patients with delayed excretion had significantly higher levels of serum transaminases and increase in creatinine.
Conclusion
The results of our study showed that prolonged hydration along with extended leucovorin rescue with single level of serum MTX at 72 h is feasible, but the impact on efficacy is unknown and this way of HD-MTX administration needs to be validated in larger studies along with comparisons with levels at other time points.
背景：高风险急性淋巴细胞白血病（ALL）患儿在给予高剂量甲氨蝶呤（HD-MTX）治疗时，连续监测42小时血清甲氨蝶呤（MTX）水平至低于0.4 μmol/L，被视为避免HD-MTX毒性的标准护理。我们研究了在高风险急性淋巴细胞白血病（ALL）儿童中使用HD-MTX的可行性，在72 h时监测血清MTX水平。材料和方法这是一项回顾性研究，研究对象是2019年1月至12月在印度南部地区癌症中心儿科肿瘤科接受治疗的患者。年龄15岁，诊断为B（高风险）或T系急性淋巴母细胞白血病（ALL）和淋巴母细胞非霍奇金淋巴瘤（NHL）并接受HDMTX治疗的患者纳入研究。在开始输注后72小时单独测定血清MTX水平。HD-MTX最常见的副作用与年龄、性别、营养等级、甲氨蝶呤剂量（3g vs 5g）和72 h时甲氨蝶呤水平（0.05 vs 0.05 μmol/L）相关。将数据输入到excel表格中，并通过适当的统计检验进行分析。P & lt;0.05为显著性。结果MTX高剂量组（5g/m2）腹泻、血小板减少和高胆红素血症发生率显著高于3g/m2组（p分别为0.02、0.043和0.035）。72h血清MTX水平为<；/>；0.05 μmol/L组的临床毒性无显著差异。然而，延迟排泄的患者血清转氨酶水平明显升高，肌酐升高。结论我们的研究结果表明，延长水合时间并延长亚叶酸素抢救在72 h时单水平血清MTX是可行的，但对疗效的影响尚不清楚，这种HD-MTX给药方式需要在更大规模的研究中进行验证，并与其他时间点的水平进行比较。
{"title":"Administration of high dose methotrexate monitoring a single serum methotrexate level at 72 hours","authors":"Saksham Singh , Prakruthi Kaushik , A.R. Arun Kumar , Nuthan Kumar , Shalaka Mahajan","doi":"10.1016/j.phoj.2025.100456","DOIUrl":"10.1016/j.phoj.2025.100456","url":null,"abstract":"<div><h3>Background</h3><div>When administering high dose Methotrexate (HD-MTX), in children with high-risk Acute lymphoblastic leukemia (ALL), serial monitoring of serum Methotrexate (MTX) levels till they are less than <0.4 μmol/L at 42 hrs is regarded as standard of care in avoiding HD-MTX toxicity. We studied the feasibility of administering HD-MTX in children with high-risk Acute lymphoblastic leukemia (ALL), with a single monitoring level of serum MTX level at 72 h.</div></div><div><h3>Materials and methods</h3><div>This is a retrospective study from patients treated at the Department of Paediatric Oncology from January to December 2019 at a regional cancer centre in South India. Patients aged <15 years with diagnosis of B (high risk) or T lineage Acute lymphoblastic leukemia (ALL) and Lymphoblastic Non-Hodgkin lymphoma (NHL) who received HDMTX were included in the study. A solitary serum MTX level was done at 72 h after starting the infusion. The most common side effects of HD-MTX were noted and correlated with age, sex, grade of nutrition, dose of Methotrexate (3g versus 5g) and Methotrexate levels at 72 h (<0.05 versus >/ = 0.05 μmol/L). Data was entered in excel sheet and analyzed by appropriate statistical tests. P < 0.05 was taken as significant.</div></div><div><h3>Results</h3><div>Children who received higher dose of MTX (5g/m<sup>2</sup>) were found to have significantly more episodes of diarrhea, thrombocytopenia and hyperbilirubinemia as opposed to 3g/m2 (p = 0.02,0.043 and 0.035 respectively). There was no significant difference in clinical toxicities in those whose 72-h serum MTX levels were </>0.05 μmol/L. However, patients with delayed excretion had significantly higher levels of serum transaminases and increase in creatinine.</div></div><div><h3>Conclusion</h3><div>The results of our study showed that prolonged hydration along with extended leucovorin rescue with single level of serum MTX at 72 h is feasible, but the impact on efficacy is unknown and this way of HD-MTX administration needs to be validated in larger studies along with comparisons with levels at other time points.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100456"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270857","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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