Journal of Pediatric Hematology/Oncology最新文献

Background: Conventional conditioning regimens for children with lymphoid malignancy undergoing allogeneic hematopoietic cell transplantation (HCT) are myeloablative and involve high-dose total body irradiation (TBI). Such regimens are associated with significant late complications.

Observations: Here, we used a reduced-toxicity conditioning regimen comprising fludarabine, cytarabine, melphalan, and low-dose TBI (FLAMEL) to treat 5 patients with lymphoid malignancy before HCT. Four patients maintained complete remission (range, 18 to 63 mo), whereas the remaining patient who had positive minimal residual disease (MRD) before HCT relapsed.

Conclusions: FLAMEL might be a suitable conditioning regimen for children with lymphoid malignancy if pre-HCT MRD is negative.

Background: This study aimed to evaluate the factors associated with diagnosis delay in children with cancer who are treated at a single institution, which caters to most children with cancer in Jordan.

Methods: This was a cross-sectional study with a retrospective chart review of selected patients who were diagnosed from August 2018 to December 2021. Data on patient and household characteristics, medical history, and diagnostic delay were collected through structured interviews. Univariable and multivariable linear and logistic regression models were used to identify predictors of delay.

Results: The study included a cohort of 202 patient-caregiver pairs, with a median total delay from symptom onset to treatment initiation of 47 days (interquartile range [IQR], 21 to 114 d). Notably, 86% of families pursued medical consultation within a month of recognizing symptoms. A regression model revealed CNS tumors as a significant independent predictor of increased total delay ( P =0.002), with affected patients experiencing a median delay markedly longer than those with other cancer types. In addition, older patient age predicted longer total delay ( P =0.025). Symptomatology played a pivotal role in the timeliness of the diagnosis; specifically, visible symptoms such as pallor, bruises, and jaundice were associated with more expedient medical attention, with significantly shorter delays ( P values: 0.011, <0.001, and 0.045, respectively). Furthermore, our investigation disclosed a notable variance in symptom prevalence across different cancer categories, elucidating the complex relationship between clinical presentation and diagnostic timelines.

Conclusions: This study highlights the importance of the diagnosis of CNS tumors, patient age, and symptoms in predicting diagnosis delay in pediatric oncology patients. These findings can inform interventions to reduce delays in diagnosis and improve outcomes for these patients. These insights are crucial for developing targeted educational programs aimed at healthcare professionals and families to accelerate the recognition and referral of pediatric cancer cases.

Outcomes for high-risk neuroblastoma have improved with the addition of antidisialoganglioside (GD2) antibody-mediated immunotherapy to multimodality therapy. Urticaria is an expected side effect of anti-GD2 immunotherapy. Rarely, despite maximal use of antihistamines and H2 receptor antagonists, refractory urticaria can result in impaired quality of life, and delays or discontinuation of immunotherapy. The anti-IgE monoclonal antibody, omalizumab, is approved for the treatment of asthma and chronic spontaneous urticaria. We successfully managed grade 3, naxitamab-related urticaria refractory to standard management in 2 patients using omalizumab, allowing for continued anti-GD2 immunotherapy. Omalizumab did not impact antitumor activity or immunogenicity of naxitamab.

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) is an extremely rare inborn error of immunity (IEI) caused by X-linked recessive inheritance and loss-of-function mutations in the MAGT1 gene, resulting in magnesium ion channel defects. This article reports 2 cases of systemic EBV-positive T-cell Lymphoma of childhood (SETLC) associated with XMEN, which have not been reported before. Whole exome sequencing (WES) in their family revealed previously unreported MAGT1 gene mutations (c.77T>C, p.I26T; c.956-957del: p.Ser319Tyrfs) inherited from their mothers. These mutations expand the spectrum of gene mutations in XMEN disease. The importance of genetic testing for MAGT1 mutations in the initial diagnosis of SETLC was emphasized. We also review the literature on this uncommon IEI.

To identify childhood cancer patients and their families at the greatest risk for psychosocial difficulties, this study examined the predictive validity of the Psychosocial Assessment Tool 2.0 (PAT2.0) on caregiver and patient-reported mental health outcomes at 1-year follow-up. The PAT2.0 was administered to caregivers a median of 0.08 years after cancer diagnosis. A brief psychosocial screening battery (Family Symptom Inventory and PROMIS v1.0 Pediatric Profile-25) was administered to patient-caregiver dyads (n=53) ∼1-year later. Linear regressions support the longitudinal predictive validity of the PAT2.0 for caregiver-reported child and caregiver mental health symptoms and child-reported peer relationships difficulties.

Background: BK virus (BKV) is one of the most common causes of hemorrhagic cystitis (HC) in children undergoing hematopoietic stem cell transplantation (HSCT). Viruses can be found in urine and serum of immunocompromised patients.

Objective: This study aimed to evaluate the incidence, clinical course, and risk factors for BKV infection in children undergoing HSCT.

Methods: Retrospectively analyzed children who underwent HSCT at Beijing Children's Hospital, Capital Medical University from June 2020 to June 2022. Data related to the clinical manifestations, engraftment, and prognosis were extracted from medical records. Patients were divided into the case group and the control group, according to the BKV infection or not after HSCT.

Results: A total of 149 patients were enrolled in this study, and 61 (40.9%) patients developed BKV infection after HSCT. Among the 61 patients, BKV load was detected in all patients in urine samples and 22 patients in blood samples. The median value of BKV DNA copies in urine and plasma were 9.50×10 7 (5.37×10 2 to 6.84×10 9 ) copies/mL and 2.97×10 3 (9.96×10 2 to 3.58×10 8 ) copies/mL, respectively. The median time from beginning of the conditioning regimen to BKV infection was 23 (0 to 273) days, and the first positive time of urinary BKV was earlier than that of blood (13.5 d [0.0 to 123.0 d] vs. 30.5 d [7.0 to 165.0 d], P =0.003). Among the patients with BKV infection, 36 (59.0%) patients met the diagnosis of hemorrhagic cystitis (HC), and the incidence was higher than that in the control group ( P <0.001). Similarly, 15 (24.6%) patients developed renal function damage in the case group and the proportion was higher than that in the control group. The median follow-up was 5.67 (0.03 to 24.90) months, and there was no significant difference in 1-year overall survival rate between the case group and the control group (84.2%±5.7% vs. 95.3%±2.3%, P =0.688), but the incidence of TA-TMA/VOD (31.1%) and diffuse alveolar hemorrhage (9.8%) in the case group was higher than that in the control group ( P =0.002 and 0.038, respectively). Multivariate analysis showed that age above 5 years old (OR=9.039, 95% CI: 3.561-24.333, P <0.001) and use of MMF (OR=2.708, 95% CI: 1.041-7.044, P <0.05) were independent risk factors for BKV infection after HSCT.

Conclusion: Among children after HSCT, the incidence of BKV infection was high and BKV infection was associated with an increased incidence of TA-TMA/VOD and diffuse alveolar hemorrhage. Patients older than 5 years of age at the time of HSCT and treated with MMF were more likely to develop BKV infection.

Background: Infantile myofibromatosis (IM) is a rare disorder characterized by benign tumors in the skin, subcutaneous tissue, muscle, and occasionally viscera. IM can be hereditary due to PDGFRB or NOTCH3 variants. Treatment is mainly conservative or surgical. Combination regimens have been used in case of disseminated disease.

Observation: We present relapsed disease of IM 11 years after diagnosis in a 2-year-old child initially treated by microscopically complete resection. A new heterozygous c.1687G>A (p.Glu563Lys) mutation in the PDGFRB gene was identified (considered likely pathogenic).

Conclusions: In association with initial treatment, genetic testing is crucial for tailored clinical practice and follow-up in patients diagnosed with IM.

Acute intermittent porphyria (AIP) causes neurovisceral symptoms and organ toxicity resulting in acute and chronic health conditions. Treatment has traditionally involved avoiding triggers and utilizing carbohydrates and hemin infusions for acute attacks. Givosiran, an FDA-approved small interfering RNA, has shown benefit in adults in reducing attacks. However, its usage in pediatrics is extremely limited. We present a pediatric patient with AIP, requiring frequent hemin infusions for severe attacks, which have a resolution of her disease state and symptoms with the initiation of givosiran therapy.