Pediatric Blood & Cancer最新文献

Purpose: Evaluating the post-discharge health-related quality of life (HRQoL) in hemophagocytic lymphohistiocytosis (HLH) and exploring its influencing factors.

Patients and methods: The study was conducted at a regional pediatric medical center and involved pediatric patients diagnosed with HLH between July 2017 and July 2022. Healthy children of the same age and sex were included as the control group. The HRQoL and its associated factors in pediatric patients were assessed using the PedsQL 4.0 Parent Proxy Report and a general information survey.

Results: In the first year following diagnosis, psychological health and overall score in HLH patients were worse than those of the control group. However, scores for emotional functioning, school functioning, physical health, psychosocial health, and overall scores in the HLH group increased over the years since diagnosis. By the 5-year post diagnosis, there were no significant differences between the HLH group and the control group in social functioning, school functioning, physical health, psychosocial health, and overall scores (p > 0.05). Generalized linear model analysis revealed that HLH patients who underwent transplantation have worse social functioning, physical health, overall score, while HLH patients with HLH recurrence have worse social functioning, psychosocial health, overall score (p < 0.05).

Conclusion: The HRQoL of HLH patients is compromised after discharge; however, it progressively returns to levels comparable to those of healthy cohorts over time since diagnosis. Transplantation, and HLH recurrence are identified as factors affecting the HRQoL in HLH patients.

Background: Childhood cancer survivors (CCS) are at risk for medical and psychosocial late effects of their disease and its treatment and are recommended to receive annual follow-ups. Yet, rates of follow-up adherence are suboptimal and may be influenced by the organization and delivery of their healthcare. This research aimed to examine experts' perceptions of facilitators and barriers to healthcare organization and delivery to CCS.

Procedure: Thirty-one clinicians and administrators in a comprehensive cancer center's research consortium were interviewed about system-level factors that may promote or deter annual follow-ups among CCS. Interview transcripts were coded and inductively analyzed using a study-specific scheme.

Results: Three main themes were identified: (1) healthcare system influences (59%); (2) social determinants of health (25%); and (3) intra/interpersonal factors (16%). Prominent subthemes included age-related changes in the transition of healthcare responsibility that disrupt ongoing CCS care (28.1%), the breadth and quality of psychosocial support available to navigate CCS to follow-up (13.5%), and transportation challenges (24.6%; especially in low-resource areas). In contrast, community trust facilitated follow-up (17.3%).

Conclusion: The system of healthcare was prominent in receipt of follow-up by CCS, and further influenced by social determinants of health and intra/interpersonal factors. Easing transitions of responsibility (from parents to CCS, and acute care to survivorship teams) may be beneficial, especially when social determinants of health obstacles are present. Psychosocial wrap-around care is essential, along with promoting staff awareness of obstacles that CCS encounter in low-resource communities.

Objective: Iron and other biologically important metals are essential to mitochondrial function but are not routinely evaluated. Their equilibrium is critical to the optimal performance of cells with high metabolic activity such as neurons, cardiomyocytes, and skeletal myocytes. Teenagers are at a high risk of iron deficiency even without anemia. Metal ion imbalances can cause cognitive impairments, muscle weakness, and sudden cardiac death. We aim to assess the current prevalence of iron deficiency among collegiate athletes in the Upper Midwest.

Methods: Our study is a multicenter, retrospective chart review of outpatient clinics in a regional healthcare system between January 2012 and December 2023, and a national public database between 2017 and March 2020. We reviewed the ferritin concentrations of regional collegiate athletes having preparticipation sport evaluations and nationally in the NHANES database.

Results: We identified 643 unique individuals aged 16-21 years with 253 having ferritin screening. Iron deficiency (ferritin <20 mcg/L) was present in 24.5% and hypoferritinemia (ferritin <50 mcg/L) was present in 66.7% of collegiate athletes. From the NHANES database, 12.7% of active sampled participants aged 16-21 years were iron deficient.

Conclusion: Our study findings suggest the need for universal screening for iron deficiency among collegiate athletes given the high prevalence of iron deficiency in both the retrospective chart review and NHANES database analysis. Given the critical role of metal ion homeostasis to optimal mitochondrial function, these findings may warrant the inclusion of ferritin testing in cardiac, neurological, and skeletal muscle evaluations.

Background: While alopecia associated with chemotherapy, radiation, or hematopoietic stem-cell transplant (C/R/HSCT) is transient in most children, prior reports indicate nearly one in seven childhood cancer survivors suffer from persistent alopecia after their treatment is completed. The objective of our study was to better characterize the impact of C/R/HSCT-associated persistent alopecia on patient quality of life.

Procedure: A cross-sectional cohort study of patients with a history of C/R/HSCT who were seen at Dana Farber Cancer Institute/Boston Children's Hospital Dermatology from August 2023 to February 2024 for any indication was conducted. Patients who completed their C/R/HSCT treatment regimen >6 months prior to visit were invited to fill out a survey on patient experience with persistent alopecia, including a modified Children's Dermatology Life Quality Index (CDLQI). Participants also underwent a full scalp examination.

Results: Twenty one out of 47 (44.7%) patients in our cohort self-reported persistent alopecia. For nine additional patients, alopecia was not self-reported but noted by a dermatologist on exam. Median self-reported alopecia severity was 3 (interquartile range [IQR] 2-5.25) on a visual analog scale of 1-10. The most common pattern of alopecia was diffuse thinning. Median CDLQI score was 5 (IQR 2-7) for those with persistent alopecia, indicating a small negative effect of disease on patient quality of life. Fifteen (31.9%) patients report receiving information about persistent alopecia prior to their C/R/HSCT.

Conclusions: Nearly half of childhood cancer and transplant survivors evaluated by dermatology suffered from persistent alopecia, which negatively impacted their quality of life. Better counseling on persistent alopecia should be provided to childhood cancer patients.

Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.

Background: Research expands knowledge and improves outcomes. Research is needed in all settings, but most often occurs in high-income countries (HIC) compared to low- and middle-income countries (LMICs). Publication in scientific peer-reviewed journals and authorship position are important for academic/clinical advancement. We explored the current state of global authorship and data source distribution for publications in the Pediatric Blood and Cancer (PBC) journal.

Procedure: LMIC-affiliated author inclusion and position in selected article categories of the PBC (2011-2021) were recorded. Articles with at least one LMIC-affiliated author (first-listed affiliation) and 5% of exclusively HIC-authored articles were verified. Descriptive statistical analysis was performed.

Results: Of 4504 articles reviewed, 593 (13%) included at least one LMIC-affiliated author (517/593 [87%] as first author and 488/593 [82%]) as senior author. In a subset of articles with LMIC-sourced data, 148/675 (22%) included exclusively HIC authors. Within the LMIC-sourced data subset, 81/675 (12%) articles were mixed HIC/LMIC affiliation and 446/675 (66%) were exclusively LMIC-affiliated. The frequency of LMIC-affiliated authors as first or senior author within HIC/LMIC-affiliated collaborations was 31/81 (38%) and 9/81 (11%), respectively.

Conclusion: As more than 80% of children live in LMICs and the WHO Global Initiative for Childhood Cancer is increasingly engaged across LMICs, all researchers/clinicians must justly be given an opportunity to conduct, write, publish, and be recognized for their research. PBC is uniquely poised to promote equitable publishing practices and opportunities for professional recognition by drawing on emerging best practices for equitable authorship, including potentially restructuring authorship guidelines and requirements.

Background: Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of patients with MYOD1 mutated fnRMS in order to improve risk stratification and treatment options.

Procedure: Histological, mutational and clinical data from a cohort of patients with MYOD1 mutant RMS treated in Europe were analysed.

Results: Thirty-two cases with mutant MYOD1 RMS were identified from patients enrolled in sequential European rhabdomyosarcoma clinical trials from 1992 to 2022 (n = 22) and non-trial cohorts (n = 10). Thirty cases had the recurrent L122R missense mutation, one case harboured a K124E mutation and one case had a truncating mutation (S63X). Increased MyoD1 and reduced MYF4 immunostaining were consistent features of MYOD1^L122R-mutated RMS. Applying the risk stratification of the European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS2005 trial, among 20 localised RMS cases that could be assigned a risk category, one was Very High Risk, 13 were High Risk and six were Standard Risk. Eight patients had distant metastases at diagnosis. Of the 25 patients with adequate clinical follow-up data, 15/25 (60%) patients had an event at a median time of 9 months (12/15 included failure of local control) and 13/25 (52%) died of disease.

Conclusion: This MYOD1 mutant cohort demonstrates increased MYOD and reduced MYF4 immunostaining, high risk of local failure and poor survival in agreement with other studies. Increased treatment intensity and improved local control should be considered for these patients.

Rhabdomyosarcoma is the most common pediatric soft tissue sarcoma, and 5-year overall survival exceeds 70%. With more long-term survivors, it is critical to understand the frequency of late events, including recurrence, second malignant neoplasm, and death, occurring 5 years after diagnosis, and the variables associated with these events. We report late events in patients enrolled on Intergroup Rhabdomyosarcoma Study Group and Children's Oncology Group trials from 1997 to 2013 including D9602, D9803, D9802, ARST0331, ARST0431, ARST0531, and ARST08P1. A late event occurred in 2.9% of 5-year event-free survivors supporting guidelines to limit surveillance for these events to 5 years from diagnosis.