Pediatric Hematology Oncology Journal最新文献

{"title":"Graft failure post allogeneic hematopoietic stem cell transplant in pediatric and young adults at a single centre in N. India","authors":"Vaibhav Chadha,&nbsp;Garima Nirmal,&nbsp;Nikhil Gupta,&nbsp;Shruti Verma,&nbsp;Eby P. Baby,&nbsp;Gaurav Kharya","doi":"10.1016/j.phoj.2025.100465","DOIUrl":"10.1016/j.phoj.2025.100465","url":null,"abstract":"<div><h3>Background</h3><div>Graft failure (GF) is a rare complication post hematopoietic stem cell transplant (HSCT) and failure to achieve a stable engraftment leads to increased risk of morbidity and mortality.</div></div><div><h3>Procedure</h3><div>We performed a retrospective observational study, on a cohort of patients transplanted from January 2019 to November 2024 to analyse potential risk factors for GF. All consecutive patients from 1 till 21 years of age who underwent allogeneic HSCT during the study period were included. Univariate analysis was done to determine the risk factors for GF. Overall survival (OS) was calculated using the Kaplan-Meier method and the differences in subgroups were assessed by log-rank test.</div></div><div><h3>Results</h3><div>336 patients between 1 and 21 years of age underwent allogeneic HSCT, out of which 16 (4.76 %) experienced GF. Eleven (68.75 %) had primary graft failure (PGF) and 5 (31.25 %) secondary graft failure (SGF). Univariate analysis of risk factors contributing to GF showed that cryopreservation of stem cell product significantly increased the risk of GF, which was 14.63 % (6/41) in cryopreserved infused product vs 3.38 % (10/290) in freshly infused product, P value=0.001. Given the small number of patients suffering graft failure, it was not possible to conclusively establish by multivariate analysis the relevance of other factors. At a median follow up of 794 days (22–2920), overall survival (OS) of patients with GF was significantly lower as compared to non-GF cohort (38.1 % vs 76.1 %, P value = 0.004).</div></div><div><h3>Conclusion</h3><div>We concluded that infusion of cryopreserved stem cell product remains a significant risk factor for GF which subsequently reflects poor OS, it was not possible to clearly define the impact of other variables on GF. Based on this analysis, moving ahead, we intend to change the policy to use freshly harvested stem cell products for all our allogeneic HSCT recipients.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100465"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262187","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":"Challenges in prenatal diagnosis and genetic counselling in compound heterozygosity for beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH)","authors":"Dolat Singh Shekhawat ,&nbsp;Shagufta Anjum ,&nbsp;Nayan Tada ,&nbsp;Charu Sharma ,&nbsp;Pratibha Singh ,&nbsp;Kuldeep Singh","doi":"10.1016/j.phoj.2025.100460","DOIUrl":"10.1016/j.phoj.2025.100460","url":null,"abstract":"<div><h3>Background</h3><div>Elevated levels of Fetal hemoglobin (HbF) in pregnancy can raise significant challenges in diagnosis and approach. We share an interesting clinical scenario to discuss the importance of increased HbF during pregnancy and effective genetic counselling.</div></div><div><h3>Case report</h3><div>A 29 years old primigravida presented at 16 weeks for routine antenatal care. Her HbF levels were elevated at 14.5 % and high performance liquid chromatography (HPLC) of her partner revealed HbA2 levels of 5.6 % and HbF levels of 0.8 %. HPLC findings suggested a possible diagnosis of either heterozygosity for delta-beta thalassemia or hereditary persistence of HbF in the mother and beta thalassemia trait in the father. Hemoglobinopathy gene panel sequencing was performed for the father, mother and fetus, while Multiplex Ligation-Dependent Probe Amplification (MLPA) testing was conducted for the mother and fetus. The <em>HBB</em> gene sequencing revealed a heterozygous c.27_28insG mutation in both the father and fetus. The MLPA test on the mother found a heterozygous deletion of the HBB to HBG1 (HBB, HBD, HBBP, and HBG1) region, also present in the fetus. This indicated that the fetus had both a point mutation and a deletion in a compound heterozygous state, suggesting a high likelihood of being affected by beta thalassemia major or intermedia. Comprehensive genetic counselling was done. After understanding the genetic scenario, the couple chose to terminate the pregnancy.</div></div><div><h3>Conclusion</h3><div>HPLC can efficiently screen for hemoglobinopathies, but comprehensive molecular investigations are essential for precise diagnosis and optimal medical care. Practical genetic counselling aids couples in making informed decisions about future pregnancies.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100460"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270858","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":"Editorial Board Information","authors":"","doi":"10.1016/S2468-1245(25)00039-7","DOIUrl":"10.1016/S2468-1245(25)00039-7","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100471"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366762","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":"Cytokine production patterns in patients with sickle cell disease and avascular necrosis of the femoral head","authors":"Fawaz Azizieh ,&nbsp;Raj Raghupathy ,&nbsp;Renu Gupta ,&nbsp;Akmal Zahra ,&nbsp;Hanan Al-Abboh ,&nbsp;Huda Alsahhaf ,&nbsp;Rubina Fatima ,&nbsp;Adekunle Adekile","doi":"10.1016/j.phoj.2025.100462","DOIUrl":"10.1016/j.phoj.2025.100462","url":null,"abstract":"<div><h3>Background</h3><div>An imbalance in pro- and anti-inflammatory cytokines has been suggested to contribute to tissue damage in sickle disease (SCD) following recurrent ischemia, which leads to several complications including avascular necrosis (AVN) of the femoral head. This study aimed to investigate the profiles of cytokines produced by mitogen-stimulated peripheral blood mononuclear cells (PBMC) in SCD patients with or without AVN.</div></div><div><h3>Methods</h3><div>The patients were recruited from the outpatient hematology clinics of Mubarak al-Kabeer Hospital, Kuwait. They were screened for AVN using magnetic resonance imaging (MRI). Levels of peripheral blood mononuclear cell (PBMC)-secreted cytokines were estimated in 31 AVN-negative and 16 AVN-positive SCD patients. Four pro-inflammatory cytokines (IL-1−β, IL-6, IL-17A, and TNF-α) and three anti-inflammatory cytokines (IL-4, IL-10, and TGF-β) were assayed in a multiplex ELISA.</div></div><div><h3>Results</h3><div>Mitogen-activated PBMCs from the patients who were AVN-positive secreted significantly higher levels of the pro-inflammatory cytokines TGF-β, and IL-4 compared to AVN-negative patients. Similarly, three ratios (IL-17A/IL-4, TNF-α/IL-4, and, IL-17/TGF-β) were significantly higher in AVN-negative, compared to AVN-positive patients, thus showing a pro-inflammatory bias in the former. The multivariate pattern plot shows that points of AVN-positive data are clustered closely, separating them from the AVN-negative data.</div></div><div><h3>Conclusion</h3><div>Our data suggest that it may be worthwhile to explore levels and ratios of pro- to anti-inflammatory cytokines produced by mitogen-stimulated PBMC in patients with SCD with regards to prognosis and outcomes. The multivariate pattern analysis of seven cytokines revealed a pattern that can be used as a predictive tool to delineate those patients that may develop AVN.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100462"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270856","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":"Angiomyomatous hamartoma masquerading as lymphoproliferative disease in a teenager","authors":"Kamila Askarova ,&nbsp;Malika Shukurova ,&nbsp;Shaxnoz Mamadjanova","doi":"10.1016/j.phoj.2025.100459","DOIUrl":"10.1016/j.phoj.2025.100459","url":null,"abstract":"<div><h3>Background</h3><div>Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph nodes (LN). [1]</div></div><div><h3>Case report</h3><div>We present a 16-year-old male who initially came to us with bilateral inguinal lymphadenopathy. Histological evaluation suggested a diagnosis of non-Hodgkin lymphoma, while immunohistochemical analysis indicated findings consistent with Castleman disease. However, further comprehensive imaging, repeated histopathological examination, and immunohistochemical studies ultimately revealed an unexpected diagnosis of angiomyomatous hamartoma (AMH) of the lymph nodes.</div></div><div><h3>Conclusion</h3><div>The case underscores the necessity of multidisciplinary approache to avoid misdiagnosis and unnecessary interventions in pediatric and adolescent patients presenting with lymphadenopathy. This rare benign condition highlighted the importance of careful histological evaluation in diagnosing or ruling out malignancies.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100459"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366199","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":"Pseudo-Thrombotic Microangiopathy (Pseudo-TMA): a rare manifestation of vitamin B12 deficiency in a child","authors":"Mohd Arif,&nbsp;Nazish Malik","doi":"10.1016/j.phoj.2025.100455","DOIUrl":"10.1016/j.phoj.2025.100455","url":null,"abstract":"<div><div>Vitamin B12 is vital for physiological functions, and its deficiency is relatively frequent in individuals residing in lower-middle-income countries (LMIC). Vitamin B12 deficiency can manifest with mild or severe symptoms and we report an unusual presentation of Vitamin B12 deficiency in an 11-year-old vegan child. The child presented with pseudo-thrombotic microangiopathy (Pseudo-TMA), marked by hemolytic anemia, thrombocytopenia, and schistocytosis. A thorough history, examination, investigations and peripheral smear review confirmed severe macrocytic anemia with pancytopenia, hypersegmented neutrophils, schistocytes and reticulocytopenia. Management included stabilization with blood transfusion, parenteral vitamin B12, and oral multivitamins. A favorable response highlighted the importance of careful clinical evaluation in correctly diagnosing a rare presentation of a hematologic disorder in a child.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100455"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170305","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":"Factor X deficiency presenting as an intracranial bleed in a young infant","authors":"Sanyukta Sandeep Ghodke ,&nbsp;Rishab Bhurat ,&nbsp;Dhaarani Jayaraman ,&nbsp;Sri Gayathri Shanmugam ,&nbsp;Febe Renjitha Suman ,&nbsp;Ramya Uppuluri ,&nbsp;Rajakumar Padur Sivaraman ,&nbsp;Julius Xavier Scott","doi":"10.1016/j.phoj.2025.100454","DOIUrl":"10.1016/j.phoj.2025.100454","url":null,"abstract":"<div><div>Inherited Factor X deficiency is a rare bleeding disorder. It is inherited in autosomal recessive manner. The genotype and the phenotype are variable. The management is tailored as per individual patient. We hereby report an infant with severe Factor X deficiency who presented with recurrent intracranial bleeding needing prophylactic replacement of Factor X in the form of Fresh Frozen Plasma (FFP). She is currently 18 months of age and is having age-appropriate growth and development.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100454"},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170304","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":"Triple – negative essential thrombocythemia in a child: A diagnostic challenge","authors":"Neha Goel,&nbsp;Deepak Kumar Jha,&nbsp;Sanghamitra Ray,&nbsp;Sumit Mehndiratta,&nbsp;Nidhi Chopra,&nbsp;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}

{"title":"A novel SPTB variant in a Cambodian child with hereditary spherocytosis without a family history","authors":"Chean Sophâl,&nbsp;Kim Leanghay,&nbsp;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}

{"title":"Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report","authors":"Vaishnavi Sreenivasan ,&nbsp;Kawaldeep Kaur ,&nbsp;Sanghamitra Ray,&nbsp;Amitabh Singh,&nbsp;Sumit Mehndiratta,&nbsp;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.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</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}