Catherine K. Gestrich, Portia Kreiger, Lea Surrey, Sherri Besmer, Dolores Lopez-Terrada, Alanna J. Church, the Society for Pediatric Pathology (SPP) Practice Committee
Background
The increased accessibility and utilization of molecular testing including next-generation sequencing (NGS) has impacted the practice of pediatric pathology, with diagnostic, prognostic, and therapeutic implications for our patients. This survey is the first to describe the utilization of molecular testing in the routine practice of pediatric pathology for the care of children with known or suspected solid tumors.
Procedure
The Society for Pediatric Pathology Practice Committee distributed a survey to our membership asking 25 questions about training, practice setting, molecular ordering practices, and barriers to testing.
Results
Seventy-five pathologists responded to the survey. The survey provides valuable insight into the current use of molecular testing for the care of children with known or suspected solid tumors. Most respondents reported that they are increasingly using a variety of molecular techniques, with increased use over time, and that NGS is useful.
Conclusions
These results highlight a variety of barriers to molecular testing, including cost, insurance coverage, turnaround time, limitations of available assays (including limited coverage of pediatric-specific alterations), and difficulty in determining the most appropriate test to order. These data may be useful in supporting pediatric pathologists in their practice.
{"title":"The implementation of molecular tumor profiling in the practice of pediatric cancer pathology: The pathologists’ experience","authors":"Catherine K. Gestrich, Portia Kreiger, Lea Surrey, Sherri Besmer, Dolores Lopez-Terrada, Alanna J. Church, the Society for Pediatric Pathology (SPP) Practice Committee","doi":"10.1002/pbc.31370","DOIUrl":"10.1002/pbc.31370","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The increased accessibility and utilization of molecular testing including next-generation sequencing (NGS) has impacted the practice of pediatric pathology, with diagnostic, prognostic, and therapeutic implications for our patients. This survey is the first to describe the utilization of molecular testing in the routine practice of pediatric pathology for the care of children with known or suspected solid tumors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Procedure</h3>\u0000 \u0000 <p>The Society for Pediatric Pathology Practice Committee distributed a survey to our membership asking 25 questions about training, practice setting, molecular ordering practices, and barriers to testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seventy-five pathologists responded to the survey. The survey provides valuable insight into the current use of molecular testing for the care of children with known or suspected solid tumors. Most respondents reported that they are increasingly using a variety of molecular techniques, with increased use over time, and that NGS is useful.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results highlight a variety of barriers to molecular testing, including cost, insurance coverage, turnaround time, limitations of available assays (including limited coverage of pediatric-specific alterations), and difficulty in determining the most appropriate test to order. These data may be useful in supporting pediatric pathologists in their practice.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rusha Bhandari, Kara Lukas, Kyuwan Lee, Justin Shamunee, Brady Almeida, Tati Guzman, Meagan Echevarria, Lanie Lindenfeld, Christian Nenninger, Aleksi Iukuridze, Sophia Albanese, June-Wha Rhee, Sitong Chen, Charles Brenner, F. Lennie Wong, Saro H. Armenian
Background
Childhood cancer survivors (CCS) have a 50% higher risk of diabetes mellitus (DM) compared with the general population. Interventions in survivors with prediabetes (fasting glucose 100-125 mg/dL or hemoglobin A1c 5.7%-6.4%) may mitigate the development of DM and its attendant morbidity, but there is limited information on the feasibility of secondary prevention in this setting.
Methods
This 6-week pilot feasibility 1:1 randomized controlled trial enrolled 20 CCS on a structured telehealth exercise program ± nicotinamide riboside (NR), a nicotinamide adenine dinucleotide precursor. Feasibility metrics were: (1) ≥50% of eligible CCS enrolled onto study; (2) ≥70% of participants completed baseline and end-of-study assessments; (3) ≥70% compliance with exercise and NR. Secondary endpoints included changes in biomarkers associated with glucose homeostasis and muscle health.
Results
Median age (years) at cancer diagnosis was 16.5 (range, 1.5-21.5) and 35.5 (range, 18.0-67.0) at study enrollment. Enrollment rate was 87%, and 85% of participants completed baseline and end-of-study assessments. The mean percentage of exercise sessions completed was 86.6%; NR compliance was > 90%. There were no severe adverse events attributable to study interventions. Secondary endpoints were not significantly different between study arms at study completion. Myostatin decrease was observed in participants who completed a higher median number of exercise sessions and was associated with decreased intramuscular adipose tissue and increased lower extremity muscle cross-sectional area.
Conclusions
A telehealth exercise intervention ± NR supplementation was feasible in CCS with prediabetes. Future studies in larger cohorts may be needed to evaluate their beneficial effects on muscle health and DM risk among CCS.
{"title":"Feasibility of telehealth exercise and nicotinamide riboside supplementation in survivors of childhood cancer at risk for diabetes: A pilot randomized controlled trial","authors":"Rusha Bhandari, Kara Lukas, Kyuwan Lee, Justin Shamunee, Brady Almeida, Tati Guzman, Meagan Echevarria, Lanie Lindenfeld, Christian Nenninger, Aleksi Iukuridze, Sophia Albanese, June-Wha Rhee, Sitong Chen, Charles Brenner, F. Lennie Wong, Saro H. Armenian","doi":"10.1002/pbc.31369","DOIUrl":"10.1002/pbc.31369","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Childhood cancer survivors (CCS) have a 50% higher risk of diabetes mellitus (DM) compared with the general population. Interventions in survivors with prediabetes (fasting glucose 100-125 mg/dL or hemoglobin A1c 5.7%-6.4%) may mitigate the development of DM and its attendant morbidity, but there is limited information on the feasibility of secondary prevention in this setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This 6-week pilot feasibility 1:1 randomized controlled trial enrolled 20 CCS on a structured telehealth exercise program ± nicotinamide riboside (NR), a nicotinamide adenine dinucleotide precursor. Feasibility metrics were: (1) ≥50% of eligible CCS enrolled onto study; (2) ≥70% of participants completed baseline and end-of-study assessments; (3) ≥70% compliance with exercise and NR. Secondary endpoints included changes in biomarkers associated with glucose homeostasis and muscle health.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median age (years) at cancer diagnosis was 16.5 (range, 1.5-21.5) and 35.5 (range, 18.0-67.0) at study enrollment. Enrollment rate was 87%, and 85% of participants completed baseline and end-of-study assessments. The mean percentage of exercise sessions completed was 86.6%; NR compliance was > 90%. There were no severe adverse events attributable to study interventions. Secondary endpoints were not significantly different between study arms at study completion. Myostatin decrease was observed in participants who completed a higher median number of exercise sessions and was associated with decreased intramuscular adipose tissue and increased lower extremity muscle cross-sectional area.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>A telehealth exercise intervention ± NR supplementation was feasible in CCS with prediabetes. Future studies in larger cohorts may be needed to evaluate their beneficial effects on muscle health and DM risk among CCS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrew C. Hinchliffe, Leigh McDonald, Corina Moldovan, Angharad Goodman, Deborah A. Tweddle
{"title":"Spontaneous regression of a greater than 5 cm infant neuroblastoma after a three-fold volume increase without life- or organ-threatening features","authors":"Andrew C. Hinchliffe, Leigh McDonald, Corina Moldovan, Angharad Goodman, Deborah A. Tweddle","doi":"10.1002/pbc.31376","DOIUrl":"10.1002/pbc.31376","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shathar Mahmood, Sarah M. Leiter, Poe Phyu, Claudia Craven, Gail Horan, Jennifer Gains, Mayen Briggs, Esther Blanco, Sam Behjati, James Watkins, John A. Tadross, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Ruth Armstrong, Matthew J. Murray
{"title":"A diagnosis of Noonan syndrome through routine whole genome sequencing in a child with an intracranial nongerminomatous germ cell tumor","authors":"Shathar Mahmood, Sarah M. Leiter, Poe Phyu, Claudia Craven, Gail Horan, Jennifer Gains, Mayen Briggs, Esther Blanco, Sam Behjati, James Watkins, John A. Tadross, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Ruth Armstrong, Matthew J. Murray","doi":"10.1002/pbc.31368","DOIUrl":"10.1002/pbc.31368","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eloise Borello, Sarah Egan, Stephanie Dale, Alie Barlow, Yanhong Jessika Hu, Christopher Brasher, Ed Oakley
Background
Most children with cancer will require a central venous access device (CVAD) to administer cancer treatment. A commonly used CVAD is a tunnelled cuffed centrally inserted central catheter (TC-CICC). There is little information available to guide best practice when removing this type of CVAD. At our institution, TC-CICCs are removed by using either the traction or dissection methods. This study will describe the outcomes associated with each technique.
Methods/results
A retrospective cohort study was undertaken at a quaternary children's hospital in Melbourne, Australia. Data related to characteristics of TC-CICC removal success, post-removal complications and an economic evaluation were carried out. There were 149 patients who underwent traction removal and 100 who had their TC-CICC removed using the dissection technique. In the traction group, 136/149 (91%) patients had their device successfully removed on the first attempt, whereas 99/100 (99%) were removed on the first attempt with dissection. Of the 136 successful traction removals, cuff status was documented in 72 cases. The cuff remained in situ in 46/72 (64%) cases, and six of 72 (8%) patients experienced a complication. There were no documented cases of cuff retention in the dissection group. In the 2019–2020 financial year, the estimated average cost of traction removal was A$387, whereas the estimated average cost of day case surgery was A$2560.
Conclusion
This study has highlighted that the traction technique is a safe, efficient and cost-effective approach to TC-CICC removal. Further research is required to understand the patient and family experience of TC-CICC removal.
{"title":"Outcomes of tunnelled cuffed centrally inserted central catheter removal: A retrospective cohort study","authors":"Eloise Borello, Sarah Egan, Stephanie Dale, Alie Barlow, Yanhong Jessika Hu, Christopher Brasher, Ed Oakley","doi":"10.1002/pbc.31360","DOIUrl":"10.1002/pbc.31360","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Most children with cancer will require a central venous access device (CVAD) to administer cancer treatment. A commonly used CVAD is a tunnelled cuffed centrally inserted central catheter (TC-CICC). There is little information available to guide best practice when removing this type of CVAD. At our institution, TC-CICCs are removed by using either the traction or dissection methods. This study will describe the outcomes associated with each technique.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods/results</h3>\u0000 \u0000 <p>A retrospective cohort study was undertaken at a quaternary children's hospital in Melbourne, Australia. Data related to characteristics of TC-CICC removal success, post-removal complications and an economic evaluation were carried out. There were 149 patients who underwent traction removal and 100 who had their TC-CICC removed using the dissection technique. In the traction group, 136/149 (91%) patients had their device successfully removed on the first attempt, whereas 99/100 (99%) were removed on the first attempt with dissection. Of the 136 successful traction removals, cuff status was documented in 72 cases. The cuff remained in situ in 46/72 (64%) cases, and six of 72 (8%) patients experienced a complication. There were no documented cases of cuff retention in the dissection group. In the 2019–2020 financial year, the estimated average cost of traction removal was A$387, whereas the estimated average cost of day case surgery was A$2560.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study has highlighted that the traction technique is a safe, efficient and cost-effective approach to TC-CICC removal. Further research is required to understand the patient and family experience of TC-CICC removal.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31360","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carlien A. Bennebroek, Maartje C. Montauban van Swijndregt, Judith van Zwol, Sanjhana Bhusal, Anne T. Dittrich, Rianne Oostenbrink, Jan Willem R. Pott, Erik A. Buijs, Antoinette Y. Schouten-van Meeteren, Giorgio L. Porro, Pim de Graaf, Peerooz Saeed
Background
Progressive isolated optic nerve glioma (ONG) in children is a rare disease, treated with various modalities. A global treatment consensus is not available.
Methods
We conducted a national retrospective multicenter cohort study (1995–2020) to investigate how different treatment strategies impact outcome for ONG in children, by assessing treatment responses to systemic anticancer therapy (SAT), surgery, and radiotherapy for ONG. The primary endpoints included changes in best-corrected visual acuity (BCVA) and tumor volume (TV) on MRI, both evaluated at the start and end of therapy and at long-term follow up.
Results
A total of 21 ONGs (20 patients) received SAT (n = 14 (66.7%)), surgery (n = 4 (19.0%)), and radiotherapy (n = 3 (14.3%)). After SAT BCVA stabilized or improved in 66.6% (n = 4) and the TV decreased by a median of 45.1% (range: −88.6% to +31.5%) (n = 13). Before resection two eyes were already blind. After resection BCVA decreased to blindness in one eye. In total all four eyes were blind after resection. After first-line RT BCVA decreased in 66.7% of ONG to counting fingers or less, TV increased <3 months after RT by a median of 47.3% (range: −42.8% to +245.1%) (n = 3), followed by a long-term decrease of 94.4 and 13.8% (n = 2), respectively.
Conclusion
SAT appears to be the preferred modality for progressive ONG in case of potential rescue of visual functions. Complete resection of ONG appears effective to reduce proptosis in case of preexisting blindness. The use of radiotherapy requires careful consideration due to the risk of severe visual impairment and secondary disease.
{"title":"Treatment of isolated pediatric optic nerve glioma: A nationwide retrospective cohort study and systematic literature review on visual and radiological outcome","authors":"Carlien A. Bennebroek, Maartje C. Montauban van Swijndregt, Judith van Zwol, Sanjhana Bhusal, Anne T. Dittrich, Rianne Oostenbrink, Jan Willem R. Pott, Erik A. Buijs, Antoinette Y. Schouten-van Meeteren, Giorgio L. Porro, Pim de Graaf, Peerooz Saeed","doi":"10.1002/pbc.31358","DOIUrl":"10.1002/pbc.31358","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Progressive isolated optic nerve glioma (ONG) in children is a rare disease, treated with various modalities. A global treatment consensus is not available.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a national retrospective multicenter cohort study (1995–2020) to investigate how different treatment strategies impact outcome for ONG in children, by assessing treatment responses to systemic anticancer therapy (SAT), surgery, and radiotherapy for ONG. The primary endpoints included changes in best-corrected visual acuity (BCVA) and tumor volume (TV) on MRI, both evaluated at the start and end of therapy and at long-term follow up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 21 ONGs (20 patients) received SAT (<i>n</i> = 14 (66.7%)), surgery (<i>n</i> = 4 (19.0%)), and radiotherapy (<i>n</i> = 3 (14.3%)). After SAT BCVA stabilized or improved in 66.6% (<i>n</i> = 4) and the TV decreased by a median of 45.1% (range: −88.6% to +31.5%) (<i>n</i> = 13). Before resection two eyes were already blind. After resection BCVA decreased to blindness in one eye. In total all four eyes were blind after resection. After first-line RT BCVA decreased in 66.7% of ONG to counting fingers or less, TV increased <3 months after RT by a median of 47.3% (range: −42.8% to +245.1%) (<i>n</i> = 3), followed by a long-term decrease of 94.4 and 13.8% (<i>n</i> = 2), respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>SAT appears to be the preferred modality for progressive ONG in case of potential rescue of visual functions. Complete resection of ONG appears effective to reduce proptosis in case of preexisting blindness. The use of radiotherapy requires careful consideration due to the risk of severe visual impairment and secondary disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31358","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria R. Pérez-Torres Lobato, Mariona Morell, Palma Solano-Páez, Marina Ortiz-Palacios, Ángela Menárgez, Melissa Panesso, Felisa Vázquez-Gómez, JLuis Moreno-Carrasco, Álvaro Lassaletta, Vicente Santa-María, Miriam Pavon-Mengual, Eduardo Quiroga, Miguel A. García-Ariza, Maria Mora-Matilla, Carmen Garrido-Colino, Jaime Verdú-Amoros, Cristina Nova-Lozano, María Vieito, Esteban X. Cordero-Asanza, Maria Clemente, Mónica Ramos-Albiat, Juan de las Morenas-Iglesias, Lucas Moreno, Anna Llort
Purpose
We aim to describe the characteristics of patients with childhood-onset craniopharyngioma and to analyze factors that impair quality of life (QoL) in this population.
Methods
Multicenter national study including patients treated between 2008 and 2022, from 2 to 25 years of age diagnosed with craniopharyngioma. QoL was assessed once during patient's follow-up by age-adapted versions of Pediatric Quality of Life Inventory (PedsQL) questionnaire.
Results
Sixty-six patients were included. Median age at diagnosis was 5 years (interquartile range [IQR]: 3–8), while median follow-up was 7.4 years (IQR: 2.8–9.7). Most craniopharyngioma were suprasellar (93.9%), and 59.7% had hypothalamic involvement (HI). All patients underwent surgery, 44.4% received radiotherapy, and 23.6% intracystic therapy. Most frequent long-term complications were visual deficit (72.7%) and endocrine impairment (94.5%). Patients exhibited hypothyroidism requiring hormone replacement (92.4%), hypocortisolism (80.3%), diabetes insipidus (86.4%), and/or growth hormone therapy (50%). When parents evaluated QoL, PedsQL median score was 53.8 points out of 100 (IQR: 41–71.6). Higher scores were noted when patients assessed their own QoL (median score 64.8 [IQR: 57.3–81.8]), observing statistically significant differences (p = .019). QoL was impaired by repeated surgeries (r = −.44; p = .014), HI (median score 51.5 [IQR: 39–63.8] vs. 76.4 [59–84.8]; p = .001), radiotherapy (median score 51.9 [IQR: 38.1–61.3] vs. 63.8 [IQR: 49–82.5]; p = .02) and longer follow-up (r = −.3; p = .01).
Conclusion
In our study, most patients had significant comorbidities and low overall QoL scores, which was mainly affected by repeated surgery, radiation, and hypothalamic involvement. This reflects the need for further research and intensified studies of systemic therapy/alternate strategies to broaden the standard-of-care options, so that treatment-related sequalae can be avoided.
目的：我们旨在描述儿童期颅咽管瘤患者的特征，并分析影响该人群生活质量（QoL）的因素：多中心全国性研究，包括2008年至2022年期间接受治疗的2至25岁颅咽管瘤患者。在患者随访期间，通过与年龄相适应的儿科生活质量量表（PedsQL）问卷对其生活质量进行一次评估：结果：共纳入66名患者。确诊时的中位年龄为5岁（四分位间距[IQR]：3-8岁），随访时间中位数为7.4年（IQR：2.8-9.7年）。大多数颅咽管瘤位于鞍上（93.9%），59.7%累及下丘脑（HI）。所有患者都接受了手术，44.4%接受了放射治疗，23.6%接受了囊内治疗。最常见的长期并发症是视力障碍（72.7%）和内分泌损伤（94.5%）。患者表现为甲状腺功能减退，需要补充激素（92.4%），皮质醇功能减退（80.3%），尿崩症（86.4%），和/或生长激素治疗（50%）。当家长评估 QoL 时，PedsQL 的中位数为 53.8 分（满分 100 分，IQR：41-71.6）。当患者评估自己的 QoL 时，得分更高（中位数为 64.8 分 [IQR：57.3-81.8]），观察到统计学上的显著差异 (p = .019)。重复手术（r = -.44；p = .014）、HI（中位数得分 51.5 [IQR：39-63.8] vs. 76.4 [59-84.8]；p = .001）、放疗（中位数得分 51.9 [IQR：38.1-61.3] vs. 63.8 [IQR：49-82.5]；p = .02）和较长的随访时间（r = -.3；p = .01）都会影响患者的 QoL：结论：在我们的研究中，大多数患者有明显的合并症，总体 QoL 评分较低，主要受反复手术、放射和下丘脑受累的影响。这反映出有必要进一步研究和加强系统治疗/替代策略的研究，以扩大标准治疗方案的选择范围，从而避免与治疗相关的后遗症。
{"title":"Long-term sequelae and quality of life after childhood-onset craniopharyngioma: Results of a Spanish multicenter study","authors":"Maria R. Pérez-Torres Lobato, Mariona Morell, Palma Solano-Páez, Marina Ortiz-Palacios, Ángela Menárgez, Melissa Panesso, Felisa Vázquez-Gómez, JLuis Moreno-Carrasco, Álvaro Lassaletta, Vicente Santa-María, Miriam Pavon-Mengual, Eduardo Quiroga, Miguel A. García-Ariza, Maria Mora-Matilla, Carmen Garrido-Colino, Jaime Verdú-Amoros, Cristina Nova-Lozano, María Vieito, Esteban X. Cordero-Asanza, Maria Clemente, Mónica Ramos-Albiat, Juan de las Morenas-Iglesias, Lucas Moreno, Anna Llort","doi":"10.1002/pbc.31343","DOIUrl":"10.1002/pbc.31343","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>We aim to describe the characteristics of patients with childhood-onset craniopharyngioma and to analyze factors that impair quality of life (QoL) in this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Multicenter national study including patients treated between 2008 and 2022, from 2 to 25 years of age diagnosed with craniopharyngioma. QoL was assessed once during patient's follow-up by age-adapted versions of Pediatric Quality of Life Inventory (PedsQL) questionnaire.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sixty-six patients were included. Median age at diagnosis was 5 years (interquartile range [IQR]: 3–8), while median follow-up was 7.4 years (IQR: 2.8–9.7). Most craniopharyngioma were suprasellar (93.9%), and 59.7% had hypothalamic involvement (HI). All patients underwent surgery, 44.4% received radiotherapy, and 23.6% intracystic therapy. Most frequent long-term complications were visual deficit (72.7%) and endocrine impairment (94.5%). Patients exhibited hypothyroidism requiring hormone replacement (92.4%), hypocortisolism (80.3%), diabetes insipidus (86.4%), and/or growth hormone therapy (50%). When parents evaluated QoL, PedsQL median score was 53.8 points out of 100 (IQR: 41–71.6). Higher scores were noted when patients assessed their own QoL (median score 64.8 [IQR: 57.3–81.8]), observing statistically significant differences (<i>p</i> = .019). QoL was impaired by repeated surgeries (<i>r</i> = −.44; <i>p</i> = .014), HI (median score 51.5 [IQR: 39–63.8] vs. 76.4 [59–84.8]; <i>p</i> = .001), radiotherapy (median score 51.9 [IQR: 38.1–61.3] vs. 63.8 [IQR: 49–82.5]; <i>p</i> = .02) and longer follow-up (<i>r</i> = −.3; <i>p</i> = .01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In our study, most patients had significant comorbidities and low overall QoL scores, which was mainly affected by repeated surgery, radiation, and hypothalamic involvement. This reflects the need for further research and intensified studies of systemic therapy/alternate strategies to broaden the standard-of-care options, so that treatment-related sequalae can be avoided.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Barnabas Atwiine, George Chagaluka, Yamikani Chimalizeni, Muhammad Saghir Khan, Guillermo Chantada, Trijn Israels, Joyce Kambugu
{"title":"CANCaRe Africa: Working together to build a better future for children with cancer in Africa","authors":"Barnabas Atwiine, George Chagaluka, Yamikani Chimalizeni, Muhammad Saghir Khan, Guillermo Chantada, Trijn Israels, Joyce Kambugu","doi":"10.1002/pbc.31364","DOIUrl":"10.1002/pbc.31364","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Two cases of severe cutaneous toxicity induced by trametinib in children with neurofibromatosis type 1 and a brief review of the literature","authors":"Joan Ceravalls, Asunción Vicente, Luisa Fernanda Montenegro, Hector Salvador, Carolina Prat","doi":"10.1002/pbc.31373","DOIUrl":"10.1002/pbc.31373","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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