Pediatric Blood & Cancer最新文献

RECQL4-related syndromes are a group of rare cancer-predisposition syndromes caused by biallelic pathogenic/likely pathogenic variants (PV/LPV) in the DNA helicase gene, RECQL4. Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund-Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.

Background: Youth with life-limiting conditions face significant psychosocial challenges (e.g., symptoms of anxiety, depression, and pain) throughout illness and treatment. Without appropriate intervention, this can negatively affect long-term outcomes (e.g., disease management, health-related quality of life). Prompt identification and appropriate attention to distress can mitigate these effects. We aimed to determine the prevalence and severity of distress interference among outpatient youth with cancer and other life-limiting conditions, using the Checking IN screener.

Procedure: Within a larger study across four hospital centers, English-speaking pediatric outpatients aged 8-21, and a caregiver-proxy-reporter, completed a brief distress screener. Descriptive analyses were used to characterize the sample and evaluate reported distress symptoms.

Results: Checking IN was completed by 100 participants, aged 8-21 (M = 14.27, SD = 3.81); caregivers completed an equivalent proxy screener. Youth most frequently endorsed fatigue (moderate: n = 50, 50.0%; high: n = 21, 21.0%), paying attention (moderate: n = 45, 45.0%; high: n = 16, 16.0%), and sleep difficulty (moderate: n = 46, 46.0%; high: n = 13; 13.0%) as problematic. Caregivers proxy reported fatigue (moderate: n = 46, 46.0%; high: n = 32, 32.0%), worry (moderate: n = 56, 56.0%; high: n = 10, 10.0%), and sleep difficulty (moderate: n = 47, 47.0%; high: n = 14; 14.0%) as most problematic. Group differences between youth and caregiver responses were not significant.

Conclusions: Youth self-report via Checking IN can detect psychosocial distress interference. By directing resources based on real-time assessment of symptom interference, there is potential to simplify outpatient psychosocial screening and improve referral timeliness and specificity, thus allowing for more effective attention to evolving symptoms of distress.

Neuroblastoma, the most common extracranial solid tumor in children under the age of 5, has been described as early as the 19th century, and its complexity has continued to intrigue researchers, as well as medical and surgical specialists. At one end of the phenotypic spectrum, neuroblastoma is self-limiting with minimal to no intervention required, while on the opposite end exists the challenge of refractory disease despite aggressive management and toxic systemic treatments. The goal of this review is to describe a comprehensive surgical perspective and contemporary approach to neuroblastoma.

High-dose corticosteroids are an essential component of treatment for pediatric cancers. Yet, these agents often cause psychiatric disturbances including sleep disruption, steroid-induced psychosis, and steroid-induced affective disorder (SIAD). SIAD, identified as a specific form of substance/medication-induced mental disorder, can present with various psychiatric symptoms, including mania, depression, irritability, and inconsolability. SIAD's varied presentation can lead to underdiagnosis and complicates clinical care, research, and identification of best practices. Here we highlight three pediatric oncology cases involving SIAD and discuss recommendations for supporting patients with SIAD, while introducing a tiered intervention framework (modified from Kazak) that stratifies responses based on symptom severity.

Introduction: Sickle cell disease (SCD) is the most common genetic disorder among children. As the most common type of SCD, sickle cell anemia (SCA) is associated with severe complications across the lifespan. As parents/caregivers hold primary disease management responsibility during childhood, their involvement in disease management activities, including medical decision-making, is critical to successful and timely management of pediatric SCD. However, the processes through which caregivers make SCD-related decisions remain unknown. The current paper examined caregivers' decision-making processes and priorities when managing their child's SCD.

Methods: Parents and primary caregivers (N = 27) of children with SCA (ages 0-12) completed individual semi-structured qualitative interviews exploring links between caregivers' decision-making and both daily and ongoing SCA management practices. Data were transcribed verbatim, cleaned, systematically coded, and analyzed using applied thematic analysis.

Results: Participating caregivers were primarily Black or African American (88.9%), mothers (81.5%), publicly insured (55.6%), and single (51.9%). Caregivers described medical decision-making across acute symptom response, preventive disease management, and treatment initiation and/or discontinuation. Across these contexts of disease management, caregivers overarchingly prioritized protecting and improving their child's quality of life. Caregivers' medical decision-making processes were influenced by their SCA management experience, acquisition of SCA knowledge, and trust in medical providers. The extent to which these influences impacted caregivers' decision-making varied based on disease severity, disease management experience, and time since diagnosis.

Discussion: Findings highlight how processes underlying caregivers' decision-making are directly influenced and informed by caregivers' lived experiences. Future work should develop provider-initiated collaborative interventions to support medical decision-making.

The TeLeo Program offers a free-access 2-year online learning program to support fellowship programs in pediatric oncology, enhance networking opportunities, and facilitate the exchange of context-specific, educational content within the pediatric oncology community in training in Latin America. In its first edition beginning in 2021, 185 fellows from 40 centers in 12 Latin American countries were enrolled. Additional courses for other healthcare professionals related to oncology in the region were produced to further support the program. A digital platform was created to allow users to easily access learning activities after registration, with 7075 professionals currently registered.

Background: Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non-Hodgkin lymphomas (NHL). Most patients die due to cancer before the age of 20 years. Limited data exist on CMMRD-associated lymphomas and their outcome.

Methods: We conducted a retrospective study including all CMMRD-associated NHL patients registered before 2020 in the European and North American databases or reported by members of the European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL). Events considered to define event-free survival included relapse/progression, second malignancy (SML), or death, whichever occurred first.

Findings: The analysis included 74 patients, with 20 having multiple metachronous NHL. The median age at diagnosis was 9.4 years. Previous malignancies were reported in 36% of the patients, café au lait spots in 96%, and consanguinity in 54%. The initial lymphoma subtypes were 53 T-cell lymphoblastic lymphomas (T-LBL), four B-lymphoblastic lymphomas, and 17 mature B-cell non-Hodgkin lymphoma (B-NHL). All patients were treated with curative intent, with current chemotherapy regimens adapted to their subtype. The median follow-up was 8.7 years. After the first lymphoma, the 5-year event-free and overall survival rates were, respectively, 23.5% [95% confidence interval (CI): 14.9-35.1] and 61.5% [95% CI: 49.6-72.1]. The 5-year cumulative risk of progression/relapse, SML or death as a first event was 20.8%, 52.9%, and 2.7%.

Interpretation: Standard treatments for sporadic NHL are effective in most CMMRD-associated NHL cases, but multiple malignancies, including lymphomas, impair prognosis. Future strategies should evaluate the potential of less genotoxic therapies, including immunotherapy, in preventing SMLs while maintaining effective control of NHL.

Due to a high burden of neurocognitive impairment on patients with a pediatric brain tumor, interventions mitigating these symptoms are highly needed. Currently, evidence on the efficacy and feasibility of such interventions remains scarce. A systematic literature study was performed based on four different databases (PubMed, Web of Science Core Collection, Embase, and PsycArticles). Resulting articles (n = 2232) were screened based on title and abstract, and full text. We included 28 articles, investigating cognitive effects of either a lifestyle intervention (n = 6), a cognitive training (n = 15), or pharmacological intervention (n = 7). The most frequently studied interventions were the Cogmed and methylphenidate. Most interventions showed short-term efficacy. Fewer interventions also showed long-term maintenance of positive results. Despite positive trends of these interventions, results are heterogeneous, suggesting relatively limited efficacy of existing interventions and more potential of more individualized as well as multimodal approaches for future interventions.