Pediatric Hematology Oncology Journal最新文献

{"title":"Hemolytic anemia in a child with myelodysplastic syndrome t(6;9)(p22;q34.1)/DEK-NUP214: A case report","authors":"Razan Sharaf ,&nbsp;Usra Ghanem ,&nbsp;Tala Sulaiman ,&nbsp;Mohammad Aqel ,&nbsp;Hani Saleh","doi":"10.1016/j.phoj.2025.100486","DOIUrl":"10.1016/j.phoj.2025.100486","url":null,"abstract":"<div><h3>Background</h3><div>Myelodysplastic syndrome (MDS) is a rare childhood syndrome that accounts for less than 5 % of all pediatric hematologic malignancies. MDS is associated with impaired hematopoiesis with resultant thrombocytopenia, cytopenia, and/or anemia. Work-up includes complete blood count, peripheral blood smear, bone marrow study, and cytogenetic studies. Hematopoietic stem cell transplantation is curative for most patients with MDS.</div></div><div><h3>Case report</h3><div>A 3-year-old female presented with three months of anemia and jaundice, and had positive cold agglutinin and a history of hemolytic anemia with no response to steroid and cyclosporine therapy. This prompted further investigation with bone marrow testing that eventually revealed t(6; 9)(p22; q34.1)/<em>DEK-NUP214</em> with MDS.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenges of MDS in children and emphasizes the importance of considering MDS in the differential diagnosis of hemolytic anemia of unusual course. High clinical suspicion can prompt early diagnosis, which can potentially improve survival, and decrease morbidity and mortality.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100486"},"PeriodicalIF":0.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703337","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}

{"title":"A review of cytogenetic and molecular features in pediatric acute myeloid leukemia","authors":"Jun Yen Ng ,&nbsp;Rakhee Kar ,&nbsp;Nalini Pati","doi":"10.1016/j.phoj.2025.100481","DOIUrl":"10.1016/j.phoj.2025.100481","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) accounts for approximately 18 % of pediatric leukemia. While the outcome has improved steadily over the years, various challenges remain pertinent, including a relapse rate of approximately 30 %. The evaluation of cytogenetic and molecular abnormalities is important for the diagnosis and treatment of AML in the modern era. However, there are key differences between pediatric and adult AML that are important to recognise due to their practical implications for patient management. In this review, we discuss the cytogenetic and molecular features of pediatric AML and their relevance to the diagnosis, prognostication, and treatment of the condition.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100481"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144694747","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}

{"title":"Mass spectrometry proteomic profiling and treatment response in pediatric B-cell acute lymphoblastic leukemia: a pilot study","authors":"Jorge Antonio Bermudez Lugo ,&nbsp;Marlet Martínez Archundia ,&nbsp;Jose Correa-Basurto ,&nbsp;Horacio Reyes-Vivas ,&nbsp;Jesús Antonio Oria-Hernández ,&nbsp;Juan Francisco Martínez-Aguilar ,&nbsp;Hilda Sánchez-Vidal ,&nbsp;Marta Margarita Zapata-Tarres","doi":"10.1016/j.phoj.2025.100484","DOIUrl":"10.1016/j.phoj.2025.100484","url":null,"abstract":"<div><h3>Background</h3><div>In Mexico, cancer represents the leading cause of pediatric death by disease, with over half the cases due to acute lymphoblastic leukemia (ALL). Despite the use of clinical, biochemical, immunological, and genetic variables for risk stratification, minimal residual disease (MRD) remains one of the strongest predictor of outcomes. Although Mass spectrometry-based proteomic studies are growing in the oncology field, pediatric ALL is yet to benefit from it. This pilot study aims to describe the lymphoblast's protein expression profile obtained through LC-MS/MS shotgun proteomics from four pediatric patients with treatment-naïve B-cell ALL and compare it according to their response to remission induction treatment measured by MRD.</div></div><div><h3>Material and methods</h3><div>Protein isolates from bone marrow were analyzed using LC-MS/MS, and differentially expressed proteins were analyzed via Ingenuity Pathway Analysis. Patients were grouped according to MRD levels (good response: &lt;0.01, slow-suboptimal response: 0.01–0.99) at the end of induction treatment.</div></div><div><h3>Results</h3><div>Between 880 and 1724 proteins were identified per patient, with 631 common across all cases. Protein expression showed 36 upregulated and 63 downregulated elements in the suboptimal response group; several of these belonging to pathways that drive cell cycle activation through activation of MYC, YAP1, and SRF.</div></div><div><h3>Conclusion</h3><div>The proteomic characterization in these four Mexican pediatric B-ALL patients showed that the expression pattern might be more similar in those with the same type of MRD response. However a large number of subjects would be needed to draw any meaningful conclusion. In addition, MS-proteomic studies could be useful to detect proteins with clinical use as diagnostic biomarkers, and to identify drug targets in the context of precision medicine.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100484"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653759","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}

{"title":"Ovarian sex cord stromal tumor and malignant mixed germ cell tumor in Constitutional Cancer Mismatch Repair Deficiency Syndrome","authors":"Sarita Verma ,&nbsp;Shailaja Mane ,&nbsp;Bala Krushna Garud ,&nbsp;Aniruddha Bhagwat ,&nbsp;Mangesh Londhe ,&nbsp;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}

{"title":"Aberrant antigen expression in children with acute lymphoblastic leukemia","authors":"Likhitha Bhukaya ,&nbsp;Jainish Shukla ,&nbsp;K. Hershavardhini ,&nbsp;S. Abhilasha","doi":"10.1016/j.phoj.2025.100485","DOIUrl":"10.1016/j.phoj.2025.100485","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100485"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144686571","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}

{"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}

{"title":"Infant acute lymphoblastic leukemia: a view from India","authors":"Debasish Sahoo,&nbsp;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/mm³, younger age group (&lt;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}

{"title":"Lineage switch in B-lineage Acute Lymphoblastic Leukemia at relapse: a report","authors":"Hershavardhini K ,&nbsp;Likhitha Bhukya ,&nbsp;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}

{"title":"Clinical profile of children with sickle cell disease in the eastern region of Saudi Arabia","authors":"Abdalla Mohamed Zayed ,&nbsp;Sulaiman AL-Muhaimeed ,&nbsp;Turki AL-Otaibi ,&nbsp;Hossam Aldosari ,&nbsp;Tahani Alotaibi ,&nbsp;Yasser Awadallah ,&nbsp;Basheer Ahmed ,&nbsp;Shangrila-Joy Ancheta ,&nbsp;Ahmed Hassan ,&nbsp;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 &lt; .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&lt;.05), respectively. Stroke occurred exclusively in SW children, who also experienced more acute chest syndrome (ACS) (32.1 % vs. 19.1 %, p&lt;.05) and received more blood transfusions (61.8 % vs. 46.8 %, p &lt; 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 &gt; 0.05). Avascular necrosis of the femoral head (AVN) occurred more in the eastern group, but this also lacked statistical significance (p &gt; 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}

{"title":"Clinical profile and outcome of children with Neuroblastoma: A single center retrospective study from North India","authors":"Zaibaish Khan,&nbsp;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 (&lt;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}