Pediatric Hematology Oncology Journal最新文献

Pseudo-Thrombotic Microangiopathy (Pseudo-TMA): a rare manifestation of vitamin B12 deficiency in a child 假性血栓性微血管病（假性tma）：儿童维生素B12缺乏的一种罕见表现

Pediatric Hematology Oncology Journal Pub Date : 2025-05-20 DOI: 10.1016/j.phoj.2025.100455

Mohd Arif, Nazish Malik

引用次数: 0

Factor X deficiency presenting as an intracranial bleed in a young infant X因子缺乏表现为婴儿颅内出血

Pediatric Hematology Oncology Journal Pub Date : 2025-05-19 DOI: 10.1016/j.phoj.2025.100454

Sanyukta Sandeep Ghodke , Rishab Bhurat , Dhaarani Jayaraman , Sri Gayathri Shanmugam , Febe Renjitha Suman , Ramya Uppuluri , Rajakumar Padur Sivaraman , Julius Xavier Scott

引用次数: 0

Triple – negative essential thrombocythemia in a child: A diagnostic challenge 儿童三阴性原发性血小板增多症：一个诊断挑战

Pediatric Hematology Oncology Journal Pub Date : 2025-05-13 DOI: 10.1016/j.phoj.2025.100453

Neha Goel, Deepak Kumar Jha, Sanghamitra Ray, Sumit Mehndiratta, Nidhi Chopra, Amitabh Singh

{"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}

引用次数: 0

A novel SPTB variant in a Cambodian child with hereditary spherocytosis without a family history 一种新的SPTB变异在柬埔寨儿童遗传性球形红细胞增多症无家族史

Pediatric Hematology Oncology Journal Pub Date : 2025-04-19 DOI: 10.1016/j.phoj.2025.04.005

Chean Sophâl, Kim Leanghay, Chin Soey

{"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}

引用次数: 0

Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report 家族性嗜血球性淋巴组织细胞增多症4型（FHL4）伴罕见STX11遗传变异和白质脑病1例报告

Pediatric Hematology Oncology Journal Pub Date : 2025-04-18 DOI: 10.1016/j.phoj.2025.04.004

Vaishnavi Sreenivasan , Kawaldeep Kaur , Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra

引用次数: 0

Use of novel bone turnover markers to assess bone health in children with transfusion dependent thalassemia and its correlation with bone mineral density 使用新的骨转换标志物评估输血依赖型地中海贫血儿童的骨健康及其与骨矿物质密度的相关性

Pediatric Hematology Oncology Journal Pub Date : 2025-04-14 DOI: 10.1016/j.phoj.2025.04.003

Sana Afsar , Zeeba Zaka-ur-Rab , Sheelu Shafiq Siddiqi , Eeman Naim

{"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}

引用次数: 0

Plasmablastic lymphoma presenting as sino-nasal mass in a child: a case report 儿童浆母细胞淋巴瘤表现为鼻鼻肿块1例

Pediatric Hematology Oncology Journal Pub Date : 2025-04-11 DOI: 10.1016/j.phoj.2025.04.002

Arjun Kachhwaha, Kavya Ronanki, Prisla Maria Dalton, Nikhil Nagpal, Uttam Kumar Nath

{"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}

引用次数: 0

Pelvic mass with isolated supratentorial brain parenchymal metastasis - An unusual presentation of Neuroblastoma: A case report 盆腔肿块伴孤立的幕上脑实质转移-神经母细胞瘤的一种不寻常的表现：1例报告

Pediatric Hematology Oncology Journal Pub Date : 2025-04-11 DOI: 10.1016/j.phoj.2025.04.001

Swetha Palla , Richa Jain , Vivek Premshankar Tiwari , Nandita Kakkar

引用次数: 0

Blinatumomab-based salvage in relapsed/refractory B-cell acute lymphoblastic leukemia: "real world" experience from a single-centre in India 基于布利纳单抗的复发/难治性b细胞急性淋巴母细胞白血病抢救：来自印度单一中心的“真实世界”经验

Pediatric Hematology Oncology Journal Pub Date : 2025-03-12 DOI: 10.1016/j.phoj.2025.03.002

Vaibhav Chadha, Garima Nirmal, Goutomi Chatterjee, Subhasish Paul, Gurpreet Singh, Nikhil Gupta, Gaurav Kharya

{"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}

引用次数: 0

A survey of education and employment status of patients with transfusion-dependent thalassemia from a low-middle-income country 中低收入国家输血依赖型地中海贫血患者教育和就业状况调查

Pediatric Hematology Oncology Journal Pub Date : 2025-03-06 DOI: 10.1016/j.phoj.2025.03.001

Shruti Kakkar , Priyanka Dewan , Sukhmani Sidhu , Evani Jain , Anirudh Jain , Praveen C. Sobti

{"title":"A survey of education and employment status of patients with transfusion-dependent thalassemia from a low-middle-income country","authors":"Shruti Kakkar , Priyanka Dewan , Sukhmani Sidhu , Evani Jain , Anirudh Jain , Praveen C. Sobti","doi":"10.1016/j.phoj.2025.03.001","DOIUrl":"10.1016/j.phoj.2025.03.001","url":null,"abstract":"<div><h3>Background</h3><div>The literacy rate in India is nearly 77 % with a school dropout rate of 16.7 % at the secondary level. Patients with transfusion-dependent thalassemia (TDT) face great difficulties in continuing education due to repeated hospital visits, the presence of co-morbidities, and psychosocial issues. The survey was undertaken to assess the educational and employment status of adult patients with TDT.</div></div><div><h3>Material and methods</h3><div>A survey was conducted amongst patients with TDT >18 years of age registered at the Thalassemia Day Care Centre (TDCC) in our hospital after obtaining informed consent. Demographic details along with education and employment achievements of patients were recorded. The socioeconomic status (SES) of the family was assessed using a modified Kuppuswamy scale for the year 2022. The education and employment status were correlated with age, sex, residence, education level of parents, and SES.</div></div><div><h3>Results</h3><div>A total of 117 patients were enrolled in the study with a mean age of 24.7 ± 6.13 years and M: F ratio of 2.1:1. 19.7 % of participants resided in rural areas. 38.6 % of participants had completed graduation and 19.7 % completed postgraduate/professional degrees in various fields. Nearly half (52.4 %) of patients were employed and financially independent. The education and employment status positively correlated with age, female sex, education of parents, and residence in urban areas.</div></div><div><h3>Conclusion</h3><div>Patients with TDT can achieve their personal and professional goals if given appropriate opportunities.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100446"},"PeriodicalIF":0.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144105886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0