Essential thrombocythemia (ET) is a well-defined entity that is characterized by the presence of splenomegaly, uncontrolled hematopoiesis, and is independent of control of growth factors. The annual incidence of ET in children has been estimated to be around 0.004–0.11 per 100,000 children aged between 0 and 16 years of age.
Case report
A 10-year-old girl child presented with hemetemesis and was found to have extreme thrombocytosis. There was no significant family history, and her parents' hemogram was within normal limits. The child was diagnosed as a case of 'triple negative' (JAK2-V617F, CALR and MPL mutation negative) essential thrombocythemia on whole exome sequencing. Since the child was asymptomatic, no treatment was initiated. The child has been followed up every two weeks for up to six months, and continued to have asymptomatic thrombocytosis.
Conclusion
The case increases awareness amongst pediatric hematologists regarding this rare entity in childhood. This case also reemphasizes the importance of detailed work up in order to reach an accurate diagnosis.
{"title":"Triple – negative essential thrombocythemia in a child: A diagnostic challenge","authors":"Neha Goel, Deepak Kumar Jha, Sanghamitra Ray, Sumit Mehndiratta, Nidhi Chopra, Amitabh Singh","doi":"10.1016/j.phoj.2025.100453","DOIUrl":"10.1016/j.phoj.2025.100453","url":null,"abstract":"<div><h3>Background</h3><div>Essential thrombocythemia (ET) is a well-defined entity that is characterized by the presence of splenomegaly, uncontrolled hematopoiesis, and is independent of control of growth factors. The annual incidence of ET in children has been estimated to be around 0.004–0.11 per 100,000 children aged between 0 and 16 years of age.</div></div><div><h3>Case report</h3><div>A 10-year-old girl child presented with hemetemesis and was found to have extreme thrombocytosis. There was no significant family history, and her parents' hemogram was within normal limits. The child was diagnosed as a case of 'triple negative' (JAK2-V617F, CALR and MPL mutation negative) essential thrombocythemia on whole exome sequencing. Since the child was asymptomatic, no treatment was initiated. The child has been followed up every two weeks for up to six months, and continued to have asymptomatic thrombocytosis.</div></div><div><h3>Conclusion</h3><div>The case increases awareness amongst pediatric hematologists regarding this rare entity in childhood. This case also reemphasizes the importance of detailed work up in order to reach an accurate diagnosis.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100453"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170303","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 : 2025-04-19DOI: 10.1016/j.phoj.2025.04.005
Chean Sophâl, Kim Leanghay, Chin Soey
Background
Hereditary spherocytosis (HS) is a form of congenital hemolytic anemia resulting from red cell membrane protein deficiency. Most cases (75 %) will have a family history of HS, but for those with no family history, there may be a delay in diagnosis.
Case report
Herein, we report a 3 ½ years old boy of Cambodian origin who presented with anemia, jaundice, and hepato-splenogaly with no family history of hemolysis. The blood film showed spherocytosis and polychromasia with a negative direct agglutination test (DAT). Genomic DNA analysis of the SPTB gene (NM_001355436.2) revealed a novel, unreported heterozygous variant, c.1720dup, (p.Glu574GlyfsTer3), confirming as de novo variant and caused HS. Treatment focuses on supportive care, including folic acid supplementation and transfusion as needed.
Conclusion
This is the first case report of HS resulting from a novel heterozygous SPTB variant in Cambodia. HS should be considered in the differential diagnosis of hemolytic anemia, regardless of the patient's ethnic background.
{"title":"A novel SPTB variant in a Cambodian child with hereditary spherocytosis without a family history","authors":"Chean Sophâl, Kim Leanghay, Chin Soey","doi":"10.1016/j.phoj.2025.04.005","DOIUrl":"10.1016/j.phoj.2025.04.005","url":null,"abstract":"<div><h3>Background</h3><div>Hereditary spherocytosis (HS) is a form of congenital hemolytic anemia resulting from red cell membrane protein deficiency. Most cases (75 %) will have a family history of HS, but for those with no family history, there may be a delay in diagnosis.</div></div><div><h3>Case report</h3><div>Herein, we report a 3 ½ years old boy of Cambodian origin who presented with anemia, jaundice, and hepato-splenogaly with no family history of hemolysis. The blood film showed spherocytosis and polychromasia with a negative direct agglutination test (DAT). Genomic DNA analysis of the <em>SPTB</em> gene (NM_001355436.2) revealed a novel, unreported heterozygous variant, c.1720dup, (p.Glu574GlyfsTer3), confirming as de novo variant and caused HS. Treatment focuses on supportive care, including folic acid supplementation and transfusion as needed.</div></div><div><h3>Conclusion</h3><div>This is the first case report of HS resulting from a novel heterozygous <em>SPTB</em> variant in Cambodia. HS should be considered in the differential diagnosis of hemolytic anemia, regardless of the patient's ethnic background.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100452"},"PeriodicalIF":0.0,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070208","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}
Familial HLH (FHL), if untreated, has often a fatal outcome.1 Neurological symptoms are seen in about two-thirds of FHL patients as a result of leptomeningeal and parenchymal infiltration by lymphocytes and macrophages, and suggest a poor prognosis.2
Case report
We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of STX11 who was found to have leukoencephalopathy on neuroimaging. She had an unusual finding of low ferritin on initial evaluation that was misleading for the final diagnosis.
Conclusion
CNS involvement portends a poor prognosis in HLH and must be kept in mind early in the diagnosis of FHL. Even in the presence of subtle symptoms, active investigation must be done in such cases as timely treatment is rewarded with good results.
{"title":"Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report","authors":"Vaishnavi Sreenivasan , Kawaldeep Kaur , Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra","doi":"10.1016/j.phoj.2025.04.004","DOIUrl":"10.1016/j.phoj.2025.04.004","url":null,"abstract":"<div><h3>Background</h3><div>Familial HLH (FHL), if untreated, has often a fatal outcome.<sup>1</sup> Neurological symptoms are seen in about two-thirds of FHL patients as a result of leptomeningeal and parenchymal infiltration by lymphocytes and macrophages, and suggest a poor prognosis.<sup>2</sup></div></div><div><h3>Case report</h3><div>We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of <em>STX11</em> who was found to have leukoencephalopathy on neuroimaging. She had an unusual finding of low ferritin on initial evaluation that was misleading for the final diagnosis.</div></div><div><h3>Conclusion</h3><div>CNS involvement portends a poor prognosis in HLH and must be kept in mind early in the diagnosis of FHL. Even in the presence of subtle symptoms, active investigation must be done in such cases as timely treatment is rewarded with good results.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100451"},"PeriodicalIF":0.0,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144068629","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":"2025-04-14","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}
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.
Case presentation
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.
Conclusion
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.
{"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}
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.
Case report
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.
Conclusion
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.
{"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}
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":"2025-03-12","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}
Pub Date : 2025-03-06DOI: 10.1016/j.phoj.2025.03.001
Shruti Kakkar , Priyanka Dewan , Sukhmani Sidhu , Evani Jain , Anirudh Jain , Praveen C. Sobti
Background
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.
Material and methods
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.
Results
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.
Conclusion
Patients with TDT can achieve their personal and professional goals if given appropriate opportunities.
{"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}
Pub Date : 2025-03-01DOI: 10.1016/j.phoj.2024.11.107
Ariadni Neofytou, Anthie Damianaki, Lydia Kossiva
Background
Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare genetic disease caused by a mutation in the ferritin light chain gene (FTL gene). It is characterized by hyperferritinemia without tissue iron overload and bilateral early-onset cataracts.
Case report
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 de novo mutation.
Conclusion
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.
{"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}
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.
{"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}
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