{"title":"Iron overload in non-transfusion-dependent thalassemia- experience at a tertiary care center in India","authors":"Sujata Sharma, Lekha Parikh, Prachi Pandhare","doi":"10.1016/j.phoj.2025.100458","DOIUrl":"10.1016/j.phoj.2025.100458","url":null,"abstract":"<div><h3>Background</h3><div>Non-transfusion-dependent thalassemia (NTDT) patients can be at risk of iron overload, despite not being transfused frequently. Iron overload is a major risk factor that increases morbidity and mortality in non-transfusion dependent thalassemia patients.</div></div><div><h3>Aim</h3><div>This study looked at the prevalence of iron overload in NTDT patients and evaluated the relationship between serum ferritin and calculated liver iron concentration (LIC) based on T2∗MRI.</div></div><div><h3>Methods</h3><div>We conducted an observational and retrospective study in a tertiary care centre of the metropolitan country of India from January 2019 to November 2020. We evaluated the prevalence of iron overload in NTDT patients, the relationship between number of PRC transfusions, serum ferritin levels, hepatic and cardiac iron as measured by validated R2 magnetic resonance imaging with T2∗ MRI values.</div></div><div><h3>Results & discussion</h3><div>Total of 56 NTDT patients were 8–12 years old with a mean age of 9.38 years. Majority of our study participants were beta thalassemia intermedia 45 (80.4 %) followed by HbE/β thalassemia 7(12.5 %) and 2 each (3.6 %) as HbH disease and Delta Beta Thalassemia. Magnetic resonance Imaging (T2∗ MRI) was done in 56 patients. Of these 35(62.5 %) had hepatic overload and 9 (16.1 %)) had cardiac overload. The mean serum ferritin level was 556.93 ng/ml. There was a negative correlation between the number of PRC transfusion, and liver T2∗ MRI values (r = −0.209, P = 0.123) as well as cardiac T2∗MRI T2∗ (r = −0.231, P = 0.087). Since T2∗ MRI values are inversely proportional to iron overload, the higher the number of PRC transfusions, the lower were the T2∗ values. We found that liver iron overload was present in half of the participants (n = 17, 53.13 %) even those who were never transfused or received less than 10 units.</div></div><div><h3>Conclusion</h3><div>Our study shows that there is a high prevalence of liver iron overload in NTDT patients. Serum Ferritin is an unreliable indicator, whereas T2∗ MRI values are better for assessing iron overload in NTDT patients.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100458"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470686","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}
Yaoping Zhang , Stelios Kasikis , Susannah Vanderpool , Paula Ogrodnik , Nikolaos Spyrou , Margaret R. Hammerschlag
{"title":"Impact of a respiratory panel on the diagnosis and management of acute chest syndrome in pediatric patients with sickle cell disease: A single-center retrospective study","authors":"Yaoping Zhang , Stelios Kasikis , Susannah Vanderpool , Paula Ogrodnik , Nikolaos Spyrou , Margaret R. Hammerschlag","doi":"10.1016/j.phoj.2025.100464","DOIUrl":"10.1016/j.phoj.2025.100464","url":null,"abstract":"<div><h3>Background</h3><div>Acute chest syndrome (ACS) is a common sickle cell disease (SCD) complication. Infectious pathogens are the most common causes of ACS followed by pulmonary infarction and fat embolism. Infectious pathogens responsible for ACS include viruses and atypical bacteria (<em>Mycoplasma pneumoniae</em> and <em>Chlamydia pneumoniae</em>). The implementation of the BioFire® FilmArray® Respiratory Pathogen Panel (RPP) at our institution since 2017 provided an opportunity to more accurately investigate the infectious pathogens responsible for ACS in children with SCD.</div></div><div><h3>Material and methods</h3><div>This study was a single-center retrospective review of electronic medical records of children with SCD, less than 21 years of age, who were admitted with a diagnosis of ACS.</div></div><div><h3>Results</h3><div>Nighty-five episodes of ACS in 64 patients admitted to our hospital from January 2013 to March 2021 were identified. Episodes were assigned to pre-RPP (n = 50) and RPP (n = 45) cohorts. Within the RPP cohort, an infectious etiology was identified in 44 % (20/45) of episodes compared to 18.75 % (3/16) of the pre-RPP cohort. The two most common pathogens identified were rhino/enterovirus and influenza, found in 11 % of episodes each. <em>M. pneumoniae</em> was identified in only 2 episodes in the RPP cohort.</div></div><div><h3>Conclusion</h3><div>Implementation of the RPP enabled more accurate identification of the causes of ACS. The majority of cases were due to viral infections. Pneumococcal and <em>M. pneumoniae</em> infections were uncommon. Based on these findings we suggest that empiric antibiotic be limited to ceftriaxone. Azithromycin should only be used if the RPP is positive for <em>M. pneumoniae</em> or <em>C. pneumoniae</em>.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100464"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144335916","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":"Administration of high dose methotrexate monitoring a single serum methotrexate level at 72 hours","authors":"Saksham Singh , Prakruthi Kaushik , A.R. Arun Kumar , Nuthan Kumar , Shalaka Mahajan","doi":"10.1016/j.phoj.2025.100456","DOIUrl":"10.1016/j.phoj.2025.100456","url":null,"abstract":"<div><h3>Background</h3><div>When administering high dose Methotrexate (HD-MTX), in children with high-risk Acute lymphoblastic leukemia (ALL), serial monitoring of serum Methotrexate (MTX) levels till they are less than <0.4 μmol/L at 42 hrs is regarded as standard of care in avoiding HD-MTX toxicity. We studied the feasibility of administering HD-MTX in children with high-risk Acute lymphoblastic leukemia (ALL), with a single monitoring level of serum MTX level at 72 h.</div></div><div><h3>Materials and methods</h3><div>This is a retrospective study from patients treated at the Department of Paediatric Oncology from January to December 2019 at a regional cancer centre in South India. Patients aged <15 years with diagnosis of B (high risk) or T lineage Acute lymphoblastic leukemia (ALL) and Lymphoblastic Non-Hodgkin lymphoma (NHL) who received HDMTX were included in the study. A solitary serum MTX level was done at 72 h after starting the infusion. The most common side effects of HD-MTX were noted and correlated with age, sex, grade of nutrition, dose of Methotrexate (3g versus 5g) and Methotrexate levels at 72 h (<0.05 versus >/ = 0.05 μmol/L). Data was entered in excel sheet and analyzed by appropriate statistical tests. P < 0.05 was taken as significant.</div></div><div><h3>Results</h3><div>Children who received higher dose of MTX (5g/m<sup>2</sup>) were found to have significantly more episodes of diarrhea, thrombocytopenia and hyperbilirubinemia as opposed to 3g/m2 (p = 0.02,0.043 and 0.035 respectively). There was no significant difference in clinical toxicities in those whose 72-h serum MTX levels were </>0.05 μmol/L. However, patients with delayed excretion had significantly higher levels of serum transaminases and increase in creatinine.</div></div><div><h3>Conclusion</h3><div>The results of our study showed that prolonged hydration along with extended leucovorin rescue with single level of serum MTX at 72 h is feasible, but the impact on efficacy is unknown and this way of HD-MTX administration needs to be validated in larger studies along with comparisons with levels at other time points.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100456"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270857","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}
A. Roggero , L. Piro , D. Paoloni , F. Palo , S. Avanzini , V. Capra , P. De Marco , S. Sorrentino , E. Arkhangelskaya , J. Ferro , V.G. Vellone , M. Conte
{"title":"Co-occurrence of ovarian Yolk Sac Tumor and pancreatic solid pseudopapillary neoplasm in a pediatric patient: A case report","authors":"A. Roggero , L. Piro , D. Paoloni , F. Palo , S. Avanzini , V. Capra , P. De Marco , S. Sorrentino , E. Arkhangelskaya , J. Ferro , V.G. Vellone , M. Conte","doi":"10.1016/j.phoj.2025.100457","DOIUrl":"10.1016/j.phoj.2025.100457","url":null,"abstract":"<div><h3>Background</h3><div>Multiple malignant neoplasms in pediatric patients are rare, posing diagnostic and therapeutic challenges. This case report details a 12-year-old girl with a Yolk Sac Tumor (YST) found to have a Solid Pseudopapillary Neoplasm (SPN) of the pancreas, highlighting management complexities.</div></div><div><h3>Case report</h3><div>A 12-year-old girl presented with pelvic pain and dysuria. Imaging revealed a right ovarian mass, confirmed as YST. A partial ovariectomy was performed. Persistent abdominal pain led to further investigation, revealing a pancreatic lesion and residual ovarian mass. Multidisciplinary management included salpingo-oophorectomy and distal pancreatectomy, achieving complete tumor resection. Genetic testing, including Whole Exome Sequencing of 400 cancer predisposition genes, found no significant variants.</div></div><div><h3>Conclusion</h3><div>The synchronous occurrence of YST and SPN in pediatric patients, without pathogenic variants, is extremely rare. Management involved surgery, chemotherapy for YST, and individualized SPN treatment. Long-term follow-up is essential due to the malignancy potential of both tumors.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100457"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270859","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":"Graft failure post allogeneic hematopoietic stem cell transplant in pediatric and young adults at a single centre in N. India","authors":"Vaibhav Chadha, Garima Nirmal, Nikhil Gupta, Shruti Verma, Eby P. Baby, 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 , Shagufta Anjum , Nayan Tada , Charu Sharma , Pratibha Singh , 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":"Cytokine production patterns in patients with sickle cell disease and avascular necrosis of the femoral head","authors":"Fawaz Azizieh , Raj Raghupathy , Renu Gupta , Akmal Zahra , Hanan Al-Abboh , Huda Alsahhaf , Rubina Fatima , 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 , Malika Shukurova , 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}