Journal of Pediatric Hematology/Oncology最新文献

Objective: Iron and vitamin B12 deficiencies remain widespread among school-age children, contributing to growth and developmental issues. This study aimed to investigate iron and vitamin B12 levels in school-age children.

Materials and methods: A cross-sectional study was conducted at a Family Medicine Unit in Istanbul. Hemogram, serum iron, total iron-binding capacity, ferritin, and vitamin B12 levels of 6 to 18-year-old children under regular follow-up were retrospectively evaluated.

Results: The study included 234 children (115 boys, 119 girls; mean age: 9.9±3.2 y). Anemia prevalence was 9.4%, significantly higher in girls (13.4%) than boys (5.2%). Iron deficiency anemia was detected in 3.4% without significant gender or age variation. Ferritin levels were below 12 ng/mL in 56.3% of cases, with a significant difference between genders. Mean vitamin B12 level was 261.5±162.9 pg/mL (boys: 217.3±173.9; girls: 275.2±151.1). Vitamin B12 deficiency affected 40.6% of children, particularly boys and those age 12 to 18 years of age (P<0.05). No correlation was found between vitamin B12 levels and other parameters except hemoglobin.

Conclusion: While anemia is more common in school-age girls, vitamin B12 deficiency has been found to be more common in adolescent boys. Regular monitoring of anemia, iron and vitamin B12 levels in school-age children is critical for a healthy future.

Background: Bloom syndrome is an autosomal recessive condition of genomic instability caused by increased sister-chromatid exchange, which results in a predisposition to a variety of cancers at a young age. The molecular alterations in Bloom Syndrome predisposing to chromosomal instability alter the expected response to and toxicities of chemotherapy in patients with this condition.

Observations: We report a 16-year-old patient with previously undiagnosed Bloom syndrome who presented with metastatic mucinous adenocarcinoma and tolerated palliative chemotherapy, initially with modified FOLFOX and subsequently with FOLFIRI, both at 50% dose reduction, without significant toxicity.

Conclusions: Dose modified multiagent chemotherapy was well tolerated in an adolescent patient with Bloom Syndrome and metastatic colorectal cancer.

Objective: In recent years, one of the most significant advancements in hemophilia treatment has been the introduction of extended half-life (EHL) factors. This study aims to identify the 50 most influential articles on EHL factor use in hemophilia treatment and analyze their key characteristics.

Methods: A comprehensive literature search was conducted without restrictions on publication date, country, or language using the Boolean operator "OR." A total of 665 documents published between 2005 and 2024 were identified from the Web of Science (WOS) Core Collection as of December 3, 2024. Articles were ranked in descending order of citation count.

Results: The 50 most-cited articles were published between 2008 and 2020, with the most productive years being 2016 and 2019, contributing 25 articles. These studies accumulated 4130 citations, averaging 82.6 citations per article. The most-cited paper, published in 2014, received 388 citations, and had the highest citation density (35.27 citations per year). The 50 articles encompassed 6 study types: reviews, phase II to III clinical trials, experimental/ex vivo studies, prospective and retrospective observational studies, and questionnaire-based studies. Review articles were the most prevalent (22 articles), while the most-cited study was a phase II to III clinical trial. No systematic reviews, meta-analyses, or randomized controlled trials were among the top-cited papers.

Conclusion: The literature on EHL factors in hemophilia has expanded over the past 2 decades, with notable growth between 2016 and 2019. Haemophilia was the most prominent journal in this field.

Nelarabine is an essential component in the treatment of pediatric T-cell lymphoblastic malignancies. Rare high-grade neurologic toxicities have been reported, but nelarabine discontinuation when early symptoms arise mitigates poor outcomes. Currently, no standard assessment of neurotoxicity exists. Our patient safety initiative implemented a novel 7-question neurologic assessment tool performed daily during nelarabine courses, which prompted early identification of neurotoxicity and allowed for appropriate interventions. Investigating 31 patients over 18 months demonstrated improved documentation from 65.9% to 97.2% (Δ+31.3%). Nine doses were omitted due to discovered neurotoxicity. Tool implementation advanced our ability to optimize patient care during nelarabine administration.

Approved treatments for patients with refractory and/or relapsed (R/R) high-risk (HR) neuroblastoma are limited, and there is a need for new treatment combinations. In this case series, 4 patients were treated with the anti-GD2 monoclonal antibody naxitamab and granulocyte-macrophage colony-stimulating factor (GM-CSF) in combination with cyclophosphamide and topotecan between August 2021 and December 2022. This combined chemoimmunotherapy regimen was well tolerated in these heavily pretreated patients with R/R HR neuroblastoma who had few treatment options and overall poor prognoses.

Pediatric rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. In low- and middle-income countries (LMIC) such as Pakistan, several challenges in the diagnosis and treatment of RMS may lead to poor outcomes. A retrospective chart review was conducted from January 1, 2017 to January 1, 2022, to identify patients with low-risk and intermediate-risk RMS at a tertiary cancer center in Pakistan. Curative treatment was given per the standard arms of the Children's Oncology Group (COG) studies ARST0331 and ARST1431 without maintenance chemotherapy. Forty-eight patients were eligible for survival analysis. The most common tumor region was parameningeal (31.3%). The 3-year overall survival (OS) was 92.9% for the 14 low-risk patients and 70.6% for the 34 intermediate-risk patients. Eleven patients died (~23%; 3 due to sepsis, 8 due to disease progression/relapse), 11 (23%) abandoned treatment, 16 (33%) had disease progression, and 3 had relapse. There was a preponderance of intermediate-risk RMS in this cohort, with 3-year OS approaching that of high-income countries but with a lower PFS and EFS. Sepsis-related deaths, treatment abandonment, and malnutrition remain significant challenges.

Cord blood units are seldom used for autologous transplantation and selection criteria have not been defined. A 6-year-old male with severe aplastic anemia received an autologous cord blood transplantation containing total nucleated cells (TNC) 2.0×107/kg and CD34+0.32×105/kg. However, he lost the graft and was rescued with a second, haploidentical donor graft. Together with those reported in the literature, 15 children with aplastic anemia received autologous cord blood transplantation. Thirteen children succeeded but 2 failed. Successful transplantation can be predicted by TNC doses of >2.5×107/kg (12/12 vs. 1/3; P=0.029), but not by CD34+ dose or patient's age. Cord blood units with adequate TNC are valid products for autologous transplantation.

Variability of sirolimus pharmacokinetics, often compounded by interactions with azole antifungal therapy, leads to concentrations outside the goal range and increased risk of related complications. We assessed the time to initial attainment of stable goal sirolimus concentrations in patients who either concomitantly initiated azole therapy and sirolimus (concomitant group) or initiated an azole after sirolimus initiation (delayed group). The median time to attainment of stable goal sirolimus concentrations was 8.0 days in the delayed group versus 6.0 days in the concomitant group. Patients in the concomitant group reached stable goal concentrations earlier than those in the delayed group (hazard ratio: 0.27, 95% CI: 0.14-0.5, P<0.001), after adjusting for age, sex, and race. The delayed group was estimated to have concentrations outside of goal range at almost 2 times the rate in the concomitant group (P<0.001), after adjusting for age, sex, and race. Thus, we conclude that concomitant initiation of sirolimus and azoles may facilitate the achievement of stable goal sirolimus concentrations sooner after allogeneic cell transplant.

We report on a 10-year-old female diagnosed with severe congenital FV deficiency who developed anti-FV inhibitory antibody 3 weeks following dental procedure hemorrhage treated with FFP. The patient presented a large spontaneous gluteal hematoma. Despite multiple FFP transfusions, FV levels remained critically low, prompting suspicion of FV inhibitor development, confirmed by ELISA. Bleeding control was achieved with recombinant factor VIIa. An immune tolerance induction protocol was initiated, and administration of FFP was continued. Factor V inhibitors became undetectable after 1 year and the patient had a favorable clinical evolution without further bleeding episodes. This case reports the successful eradication of FV inhibitor using FFP exposure and immunosuppressive therapy.

t(8;12)(q13;p13)(ETV6::NCOA2) is a rare but recurrent cytogenetic abnormality in childhood leukemia with mixed myeloid/T-cell lineage. We hereby present the first pediatric B-ALL with ETV6::NCOA2. A 5-year-old boy presented with B-ALL residual disease at end-of-induction. He achieved complete remission after therapy intensification, but relapsed 2 months later. Karyotype at relapse showed 46,XY,del(6)(q21q23),t(8;12)(q13;p13),-9,+mar[17]. ETV6::NCOA2 was confirmed by FISH and RT-PCR. Next-generation sequencing revealed a pathogenic NRAS variant. The patient developed severe neutropenia, complicated by bacterial sepsis and death 10 months later. Unlike cases with mixed myeloid/T-cell phenotype, no NOTCH1 mutations were detected. Review of published cases suggests that the presence of additional cytogenetic abnormalities dictates adverse prognosis.