Journal of Pediatric Hematology/Oncology最新文献

Hypertension is a significant morbidity among childhood cancer survivors (CCS). Ambulatory blood pressure monitoring (ABPM) allows for continuous 24-hour blood pressure assessment and provides valuable insights into abnormal nocturnal dipping (aND) and ambulatory arterial stiffness index (AASI). This study aimed to evaluate the prevalence of hypertension and prehypertension, as well as, the rates of aND, and AASI in CCS. Ambulatory blood pressure monitoring was performed in 49 patients who had completed cancer treatment at least 1 year prior. Among all patients, the prevalence of hypertension and prehypertension was 10% and 16%, respectively. The solid tumor group demonstrated a significantly higher prevalence of prehypertension, nephrotoxic drug exposure, and cumulative doses of endothelium-toxic agents compared with the hematologic malignancy group. However, no significant difference in hypertension prevalence was observed between the 2 groups. Notably, a diagnosis of Wilms tumor was significantly associated with prehypertension. According to ABPM findings, aND was observed in 61% of patients. The higher prevalence of prehypertension and aND in CCS compared with healthy children, along with the observed association between hypertension and AASI, highlights the importance of ABPM in the long-term cardiovascular monitoring of this population. The increased prevalence of prehypertension in patients with solid tumors may be attributed to the cumulative dosage of drugs used during treatment.

Primary diffuse leptomeningeal melanomatosis (PDLM) is a rare malignant disorder of the central nervous system (CNS) arising from melanocytic cells. Diagnosing PDLM is challenging due to its nonspecific symptoms and overlapping presentation with other CNS pathologies. We describe a rare pediatric patient with PDLM and present a literature review, which identified only 14 pediatric PDLM cases with varied therapeutic approaches and generally poor outcomes. While limited by small numbers and inconsistent reporting, cases treated with combination cranial/spinal radiotherapy and systemic immunotherapy appeared to demonstrate relatively prolonged survival or clinical stability compared with other therapies. Further research and collaboration are essential to establish evidence-based treatment guidelines and improve prognosis in this patient population.

Pediatric pancreatic neuroblastoma is a rare cancer in children, with only limited cases available in the literature. We report a case of a 4-year-old girl diagnosed with high-risk pancreatic neuroblastoma. The girl was treated with induction chemotherapy followed by autologous stem cell transplant and maintenance with 13-cis-retinoic acid. Surgery and radiotherapy were not feasible due to the very small size of the mass postinduction, the location of the tumor, and the expected toxicities. The girl completed treatment successfully and is now 1 and a half years postautologous stem cell transplant without any evidence of disease.

Introduction: Platelet function disorders (PFDs) are caused by abnormalities in platelet receptors, granules, and signaling pathways. While severe conditions like Glanzmann Thrombasthenia (GT) and Bernard-Soulier Syndrome (BSS) have well-characterized bleeding phenotypes, other PFDs remain less defined. This study aimed to describe the bleeding phenotype in different PFDs at the time of diagnosis and during longitudinal follow-up and compare bleeding symptoms and health care utilization for bleed management.

Methods: This retrospective multicenter study analyzed data from 129 patients diagnosed with PFDs at 3 Hemophilia Treatment Centers in the United States from 2015 to 2020. Data included demographics, bleeding symptoms, and treatment utilization. Statistical comparisons of bleeding symptoms, frequency, and treatment across PFDs were performed using the χ 2 or the Fisher exact tests.

Results: Among 129 patients, 8 had GT, 2 had BSS, 40 had platelet storage pool disorder, 7 had platelet secretion defect, and 72 had PFD not otherwise specified (NOS). Epistaxis was the most common symptom at diagnosis, except in platelet secretion defects, where soft tissue bleeding predominated. Heavy menstrual bleeding affected 31.7% of females. Over a 5-year period, epistaxis remained frequent in GT and PFD NOS. GT had the highest treatment burden, with 86.2% of bleeds requiring treatment. Hospitalizations were significantly greater in GT and platelet secretion defects.

Conclusion: Individuals with PFD NOS and platelet secretion defects can experience serious bleeding. Life-threatening bleeds occur in PFDs beyond GT and BSS, necessitating thorough evaluation, close follow-up, and careful perioperative planning. Unclassified platelet disorders require further evaluation along with genetic testing to prevent excessive blood loss.

Children with acute lymphoblastic leukemia (ALL) are at risk for poor health-related quality of life (HRQOL) due to the treatment and disease itself. This study presents a serial measurement of the HRQOL of children with ALL during cancer treatment and investigates the impact of demographic, socioeconomic, and medical patient characteristics on their HRQOL. A prospective HRQOL longitudinal study of children with ALL was conducted at an academic hospital between 2016 and 2020. HRQOL was measured using PedsQL 4.0 and PedsQL 3.0 at 3 treatment phases: induction, consolidation, and maintenance. The HRQOL of children 2 to 18 years of age was assessed using a proxy report, and children 5 to 18 years also reported themselves using patient self-report. The comparison scores between subsequent treatment phases of those interviewed in each time measurement were measured using a repeated measures ANOVA test and a post hoc analysis with the Bonferroni test. One hundred thirteen children 5 to 18 years of age and 221 parents participated. The mean age at diagnosis was 6.6±4.0 years. Children had standard-risk ALL (51%) and were boys (56%). The total score of HRQOL and most subscales significantly improved during treatment. Physical health, school functioning, procedural anxiety, and communication were most affected in early treatment. Although all scores improved over time, school functioning and communication remained lower than other subscales. The age classification impacted the improvement of most HRQOL subscales. In conclusion, the HRQOL improved during treatment. Interventions to maintain physical health and reduce procedural anxiety in early treatment are required. Improving health care providers' communication skills and facilitating hospital schooling will ameliorate HRQOL.

Neuroblastoma (NB) is the most frequent pediatric extracranial solid tumor that derives from neural crest cells, driven by aberrant expression and regulation of developmental proteins. The core regulatory circuitry driving NB consists of normal human proteins that are expressed in embryonic development but largely turned off postnatally in normal tissues. The adaptive immune system is thought to be unable to target these oncofetal antigens because high-affinity self-reactive T cells are deleted during thymopoiesis. Current treatment standard in patients with HR-NB consists of an intense treatment protocol with induction chemotherapy, surgical tumor resection, consolidation therapy with autologous bone marrow transplantation, followed by retinoid as differentiating therapy, significantly increasing survival rates to about 50%. Immunotherapy further improved survival rates that included monoclonal antibody (Anti-GD2 MoAb/Dinutuximab) and cytokines (ie, IL-2 and GM-CSF, [33-37]). CAR T cells are made from autologous T cells that engineered genetically to express a CAR. In vitro engineering methods have been developed to create antigen-specific T cells without the need for isolation from tumor tissues. Leukapheresis is used to separate unspecific T cells from the patient's peripheral blood, then genetically modified with a tumor-specific recognition construct (eg, tumor-specific TCR, CAR), expanded, and enriched in culture in the presence of cytokines under good manufacturing practice (GMP) conditions, and transduced with a vector. This allowed them to produce a CAR that targets a tumor-specific antigen. Following preparatory chemotherapy, the CAR T cell product is administered into the patient.

Surface expression of the disialoganglioside subtype GD2 has been observed on Ewing sarcoma (ES) cells, making it a suitable target for immunotherapy with the anti-GD2 antibody dinutuximab beta (DB). Here we report our experience of using DB in a cohort of 13 patients with GD2-positive, metastatic ES, in both the frontline (n=9) and relapsed/refractory (n=4) settings, when added to standard chemotherapeutic regimens. Outcomes were compared with 24 patients, primarily with localized ES, who were also treated at our center with standard therapy alone (without DB). Patients treated with DB had a median overall survival (OS) of 1877 days in the frontline setting and 810 days in the relapsed/refractory setting. Median time to progression was 1811 days and 782 days, respectively. In contrast, those treated with standard therapy alone in our center demonstrated a median OS of 1547 days and 210 days in the frontline and relapsed/refractory setting, respectively, with median times of progression of 1261 days and 113 days. DB treatment was well tolerated, with no new or unexpected adverse events reported. Anti-GD2 immunotherapy with DB represents a promising therapeutic option to improve outcomes in patients with metastatic ES, in both the frontline and relapsed/refractory settings.

Maxillofacial giant cell lesions (MGCLs) can lead to disfigurement and functional impairments. Management often involves a combination of operative and nonoperative strategies. This case series presents the first reported use of imatinib for multifocal MGCLs in a patient with Noonan syndrome, alongside 2 patients with cherubism.