Pediatric Hematology Oncology Journal最新文献

{"title":"An unusual association of deletion of SMARCB1 in a patient with intracranial yolk sac tumor: A case-report","authors":"A. Gupte ,&nbsp;E. Al-Antary ,&nbsp;K. Regling ,&nbsp;W.J. Kupsky ,&nbsp;D. Altinok ,&nbsp;C. Koschmann ,&nbsp;S. Camelo-Piragua ,&nbsp;K. Bhambhani","doi":"10.1016/j.phoj.2024.03.004","DOIUrl":"10.1016/j.phoj.2024.03.004","url":null,"abstract":"<div><h3>Background</h3><p>Deletion of <em>SMARCB1</em>/loss of INI is a well-known association in atypical rhabdoid teratoid tumors (ATRT) in the brain, rhabdoid tumors in the kidney, and less common tumors, including sinonasal INI1 deficient carcinoma, gastric undifferentiated carcinoma, undifferentiated uterine sarcomas, and poorly differentiated chordomas.</p></div><div><h3>Case report</h3><p>We describe homozygous deletion of the <em>SMARCB1</em> gene in a patient diagnosed with pineal yolk sac tumor, which is a rare entity. The association highlights the importance of INI1 staining when the clinical course is not progressing as expected and raises a critical management question: should this rare entity be treated aggressively, like ATRT, versus the conventional approach to intracranial yolk sac tumor?</p></div><div><h3>Conclusion</h3><p>This case highlights the importance of INI1 staining in pediatric primitive central nervous system tumors as some germ cell markers are expressed in rhabdoid tumors at the stem cell level, implicating the germ cell origin of ATRT, which can complicate the diagnosis.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 82-86"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000160/pdfft?md5=e5ff084ee88c8ecda39db3215871a0a5&pid=1-s2.0-S2468124524000160-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140280739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitapivat: New dawn in pyruvate kinase deficiency and beyond","authors":"Ritika Khurana,&nbsp;Sangeeta Mudaliar","doi":"10.1016/j.phoj.2024.03.003","DOIUrl":"10.1016/j.phoj.2024.03.003","url":null,"abstract":"<div><p>Mitapivat is the first in class oral allosteric activator of pyruvate kinase enzyme, leading to increased ATP production. Since red blood cells (RBC) rely on anaerobic metabolism, converting phosphoenolpyruvate to pyruvate in Embden– Meyerhof glycolytic pathway is the most important step for ATP production. Deficiency of ATP in patients with pyruvate kinase deficiency (PKD) leads to the destruction of RBCs. In hemoglobinopathies, including thalassemia and sickle cell disease, increased stress and utilization leads to rapid depletion of ATP resources.</p><p>Phase II DRIVE PK study was the first randomized controlled trial that showed benefits in adult patients without regular transfusion requirement in regards to a rise in hemoglobin ≥1.0 g/dl and improvement in other parameters of hemolysis even with a low 50 mg twice daily dose. Minor adverse effects, including headache, insomnia, and nausea were reported.</p><p>Subsequent adult studies like ACTIVATE III (non-transfusion-dependent) and ACTIVATE III – T (transfusion-dependent) in patients with PKD showed sustained hemoglobin response in 16/40 (40%) patients. It was tolerated well, and the adverse effect profile was similar to the previous study except for hypertriglyceridemia and hypertension in two patients.</p><p>Phase I/II trials on patients with thalassemia and sickle cell anemia have also shown promising results in reducing transfusion burden and other disease-related co-morbidities, paving the way for further studies.</p><p>Mitapivat appears to be a safe, well-tolerated, and effective drug for PKD and other RBC pathologies in adults. Results of ongoing pediatric studies in these settings are awaited to reveal its safety profile in children.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 101-104"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000159/pdfft?md5=c658ca6de7604bd64b802b581d8c3232&pid=1-s2.0-S2468124524000159-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140281149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare red cell enzymopathies in the Indian population: A comprehensive review","authors":"","doi":"10.1016/j.phoj.2024.03.006","DOIUrl":"10.1016/j.phoj.2024.03.006","url":null,"abstract":"<div><p>Red blood cell enzyme deficiencies are a rare category of hemolytic anaemia that typically present in children with varying degrees of hemolysis, indirect hyperbilirubinemia and splenomegaly. Glucose 6-phosphate dehydrogenase (G6PD) is the most common enzyme deficiency, followed by pyruvate kinase deficiency (PKD). This article aims to understand the pathophysiology of the rare enzymopathies due to deficiencies in the Embden<strong>-</strong>Meyerhoff pathway, glutathione metabolism, hexose monophosphate shunt and nucleotide metabolism pathway, and to study the incidence, clinical symptoms, diagnostic strategy, and management of enzyme deficiencies in the Indian patients. Most red blood cell (RBC) enzyme deficiencies are inherited in an autosomal recessive fashion except for G6PD, and phosphoglycerate kinase deficiency which has X-linked inheritance. Presentation depends on the representation of the enzyme on different tissues of the body, hence some enzyme deficiencies may present with neurological or muscular manifestations. In patients with suspected hemolytic anaemia, complete blood count and peripheral smear help in differentiating from hemoglobinopathies, etc. To clinch the diagnosis enzyme levels and genetic testing may be required. These tests guide antenatal diagnosis in subsequent pregnancies. Management of RBC enzymopathies depends on the predominant symptoms and severity of hemolysis. Patients with marked hemolysis require regular blood transfusions and hence appropriate chelation therapy. Hematopoeitic stem cell transplant is attempted in patients with severe spectrum with variable results. Newer drugs, including mitapivat have proven to be beneficial in adults with PKD and ongoing trials in children are showing promising results.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 235-243"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000184/pdfft?md5=e76d42fbc8beeb1adcf50858df264ab4&pid=1-s2.0-S2468124524000184-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140278347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peg-asparaginase associated toxicities in children with acute lymphoblastic leukemia: A single-center cross-sectional study","authors":"Sameh Awwad ,&nbsp;Rawan Abu Alnasr ,&nbsp;Fahad Almanjomi ,&nbsp;Murtada Al Sultan ,&nbsp;Jude Howaidi ,&nbsp;Mohammed Almotairi ,&nbsp;Issam AlFayyad","doi":"10.1016/j.phoj.2024.03.001","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.03.001","url":null,"abstract":"<div><h3>Background</h3><p>Leukemia is the most prevalent type of cancer affecting children, representing approximately 35% of cancer diagnoses in Saudi Arabia. Notably, significant improvement in the overall survival and cure rates for pediatrics with acute lymphoblastic leukemia (ALL) has been attributed to adding asparaginase to the chemotherapy regimen. However, the administration of these agents may lead to a multifactorial range of toxicities that often alter treatment outcomes.</p></div><div><h3>Objective</h3><p>The study aimed to characterize the prevalence of common toxicities related to polyethylene glycol (PEG) asparaginase in children aged 0–14 years diagnosed with ALL. Additionally, it assessed the types of toxicities associated with intravenous (IV) and intramuscular (IM) administration of Peg-asparaginase.</p></div><div><h3>Method</h3><p>It was an observational retrospective cross-sectional study. Data was extracted from the hospital's electronic health record (EPIC). Using EPIC, we reviewed medical charts of all pediatric patients below 14 years old diagnosed with ALL who received at least one dose of PEG-asparaginase between January 2020 and March 2023. The toxicity grading was based on the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE).</p></div><div><h3>Results</h3><p>One hundred and ninety-one patients with ALL were included in the study. Overall, 79 toxicity episodes were experienced by the study patients. Anaphylaxis/hypersensitivity (36.7%) and hepatotoxicity (31.6%) were the most prevalent toxicities reported, followed by pancreatitis and hyperglycemia (12.7% each). According to the CTCAE grading, approximately 70% of toxicities were categorized as Grade 3 and 4. Notably, 60% of the events occurred during the induction and consolidation phase of therapy. Interestingly, there was no significant difference in rates of toxicities between patients receiving IV or IM PEG-asparaginase.</p></div><div><h3>Conclusion</h3><p>The distribution of toxicities highlighted in our study aligns with findings from previously published studies. Furthermore, multivariate analysis indicated that patients with high-risk ALL and T-ALL were more likely to develop toxicities compared to other forms of ALL.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 1","pages":"Pages 54-62"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000135/pdfft?md5=a3f1f110aeb21e3069f8ad8db17052a8&pid=1-s2.0-S2468124524000135-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140135164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombotic microangiopathy in children: Redefining hemolytic uremic syndrome, thrombotic thrombocytopenic purpura and related disorders","authors":"Mamta Manglani ,&nbsp;Pranoti Kini","doi":"10.1016/j.phoj.2024.01.005","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.01.005","url":null,"abstract":"<div><p>Thrombotic microangiopathy (TMA) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and end-organ ischaemic damage. The primary mechanism involved is the occurrence of microthrombi due to deficient activity of ADAMTS13 (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats, member 13). The most common types of TMA in children are Shiga toxin-producing <em>Escherichia coli</em>-associated hemolytic uremic syndrome (STEC-HUS) followed by complement-mediated (CM) TMA, <em>Streptococcus pneumoniae</em>-associated hemolytic uremic syndrome (Sp-HUS) and hereditary thrombotic thrombocytopenic purpura (hTTP) and other rare causes. Since the outcomes are dismal if appropriate treatment is not promptly initiated, there is a need to have a high clinical suspicion. Additionally, urgently performing ADAMTS13 functional activity and autoantibody levels can help differentiate hTTP, immune thrombotic thrombocytopenic purpura (iTTP), and CM-TMA. The etiological differentiation is crucial as eculizumab is a specific therapy with exceedingly good results in CM-TMA. While plasma exchanges are required for iTTP, besides corticosteroids and/or rituximab, plasma infusions suffice for hTTP. This review focuses on the commonly encountered congenital and acquired types of TMA in children and their varied presentations while briefly touching upon the rarer disorders causing TMA.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 1","pages":"Pages 45-53"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000056/pdfft?md5=4dba7eadeeb54ab07d37de20d02f9f1f&pid=1-s2.0-S2468124524000056-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140123118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Board Information","authors":"","doi":"10.1016/S2468-1245(24)00025-1","DOIUrl":"https://doi.org/10.1016/S2468-1245(24)00025-1","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 1","pages":"Page ii"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000251/pdfft?md5=4720e641c73095d0df5a77644b586856&pid=1-s2.0-S2468124524000251-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140209358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From ‘intuitive’ pragmatic interventions to a systematic approach – Using implementation science to improve childhood cancer survival in low-income settings: The CANCaRe Africa experience","authors":"Trijn Israels ,&nbsp;Barnabas Atwiine ,&nbsp;Caitlyn Duffy ,&nbsp;Junious Sichali ,&nbsp;Glenn Afungchwi ,&nbsp;Kathy Pritchard-Jones ,&nbsp;Deborah Nyirenda ,&nbsp;Victor Mwapasa","doi":"10.1016/j.phoj.2024.02.005","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.02.005","url":null,"abstract":"<div><p>Implementation science is a relatively young field of study and is the science of delivering evidence-based interventions into routine health care. RE-AIM (Reach, Effectiveness, Adoption, Implementation, and Maintenance) is an evaluation-type implementation science framework. CANCaRe Africa is preparing a project to assess the implementation and effectiveness of a cash incentive intervention to support families with out-of-pocket costs to prevent treatment abandonment and increase childhood cancer survival in sub-Saharan Africa. Our strategy is to enhance the dissemination of our research findings to local policymakers who can support the scale-up of evidence-based clinical interventions and locally effective implementation strategies. It can be done best by embedding implementation science into our clinical research approaches.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 1","pages":"Pages 42-44"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S246812452400010X/pdfft?md5=492a582629a6f9191398351a8320d2ed&pid=1-s2.0-S246812452400010X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140031156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gilbert syndrome in patients with inherited hemolytic anemia modifies the clinical phenotype","authors":"Anika Agrawal,&nbsp;Jagdish Chandra","doi":"10.1016/j.phoj.2024.02.007","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.02.007","url":null,"abstract":"<div><p>Gilbert syndrome is a benign condition due to UGT1A1 mutations frequently resulting in mild, indirect hyperbilirubinemia. Inherited hemolytic anemias often present with hyperbilirubinemia and hepatosplenomegaly. Over the years, there have been multiple case reports/series in which the extent of unconjugated hyperbilirubinemia exceeds the extent of anemia. When worked up for the unexplained hyperbilirubinemia, these patients were found to carry mutations corresponding to both immune hemolytic anemia as well as Gilbert syndrome. This article aims to emphasise when to suspect this coexistence and how to approach a patient with inherited hemolytic anemia with unexplained jaundice.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 62-64"},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000123/pdfft?md5=09e8e3da5ab9113e02bdb6a4039496db&pid=1-s2.0-S2468124524000123-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140180613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red cell membranopathies: Case series and review of literature","authors":"Ratna Sharma,&nbsp;Amit Jain","doi":"10.1016/j.phoj.2024.02.003","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.02.003","url":null,"abstract":"<div><p>Inherited disorders affecting the red blood cell (RBC) membrane result from mutations in membrane or skeletal proteins. Such mutations can impede red cell deformability, leading to a shortened lifespan and early removal of erythrocytes from circulation. This, in turn, results in anemia and jaundice. Hereditary spherocytosis (HS), hereditary elliptocytosis, hereditary ovalocytosis, and hereditary stomatocytosis are examples of these disorders, with HS being the most prevalent form of inherited hemolytic anemia. Disorders of the RBC membrane may stem from structural or transport functional changes, but they inevitably lead to clinical symptoms of hemolytic anemia. Accurate diagnosis is crucial to avoid complications or inappropriate treatment as management varies depending on pathophysiology. In this review, we describe few cases of different types of RBC membrane disorders with variable age of presentation, emphasizing the significance of correct approach, limitations of certain investigations and the need for genetic test to reach a precise diagnosis.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 65-73"},"PeriodicalIF":0.0,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000081/pdfft?md5=d32467f531be9caf2e35976d52bb71f6&pid=1-s2.0-S2468124524000081-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140187100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishing childhood cancer survivorship clinics in India: A consensus statement","authors":"Rachna Seth ,&nbsp;Maya Prasad ,&nbsp;Gauri Kapoor ,&nbsp;Gargi Das ,&nbsp;Srinivasan Prasanth ,&nbsp;Vandana Dhamankar ,&nbsp;Purna Kurkure ,&nbsp;M Melissa Hudson","doi":"10.1016/j.phoj.2024.02.002","DOIUrl":"10.1016/j.phoj.2024.02.002","url":null,"abstract":"<div><h3>Objectives</h3><p>To provide a consensus statement describing best practices and evidence regarding the setting up Childhood Cancer Survivor Clinics in India.</p></div><div><h3>Methods</h3><p>Key topics regarding childhood cancer survivorship clinics were identified during a workshop conducted during the annual Pediatric Hematology Oncology conference (PHOCON) in New Delhi in November 2022. Workshop participants included oncologists, hematologists, medical social workers, representatives of non-government organizations, and childhood cancer survivors. Consensus was generated by combining expert opinion and a review of the literature.</p></div><div><h3>Results</h3><p>Several components regarding survivorship clinics, including the setting up of survivor clinics separate from the oncology clinic, the leading role of the treating oncologist in survivor clinics, the composition of survivor clinics and the patient pathways in the clinic, the frequency of follow-up for different survivors based on risk stratification, plans in adult survivors and the role of allied specialties like cardiologists, neurologists etc. were discussed.</p></div><div><h3>Conclusion</h3><p>Care of childhood cancer survivors is complex and requires a multidisciplinary approach centred around patients and their caregivers. Addressing post-treatment concerns is critical to our patient's quality of life as survival improves. There continues to be a need to define effective and efficient programs that can coordinate this multidisciplinary effort toward survivorship.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 3","pages":"Pages 138-142"},"PeriodicalIF":0.0,"publicationDate":"2024-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S246812452400007X/pdfft?md5=6be4cf98b4706f315c914efcb601fa00&pid=1-s2.0-S246812452400007X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139876744","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}