Pediatric Blood & Cancer最新文献

Effects of Adoption of Race-Neutral Predictive Equations on Spirometry Results in Children With Sickle Cell Disease. 采用种族中性预测方程对镰状细胞病儿童肺活量测定结果的影响

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-27 DOI: 10.1002/pbc.31825

Zena Ghazala, Matthew Pertzborn, Macey Feimster, Chary Akmyradov, Joana Mack, Suzanne Saccente, Ariel Berlinski

{"title":"Effects of Adoption of Race-Neutral Predictive Equations on Spirometry Results in Children With Sickle Cell Disease.","authors":"Zena Ghazala, Matthew Pertzborn, Macey Feimster, Chary Akmyradov, Joana Mack, Suzanne Saccente, Ariel Berlinski","doi":"10.1002/pbc.31825","DOIUrl":"https://doi.org/10.1002/pbc.31825","url":null,"abstract":"Background: Lung disease is a major cause of morbidity and mortality in children with sickle cell disease (SCD), a condition that is more common in individuals of African American descent. Spirometry is utilized in monitoring lung health. Recently, the American Thoracic Society recommended the use of race-neutral predictive equations. We aimed to evaluate how the use of race-neutral equations may affect spirometry results and interpretation in children with SCD.Methods: This retrospective study included children aged 5-21 years with SCD followed at Arkansas Children's Hospital (01/01/2000-06/30/2023) who had completed at least one spirometry. Percent predictive (pp) and z-score values were calculated using race-adjusted and race-neutral predictive equations. Absolute and relative differences were calculated. Percent of subjects with forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) with z-score <-1.645 and pp < 80%, and FEV1/FVC z-score < -1.645 were compared. Severity of impairment based on z-score was compared.Results: One hundred children completed 460 spirometries. Transitioning from race-adjusted to race-neutral equations resulted in [mean (SD)]: a decrease in ppFEV1 [-9.497% (2.8344)], FEV1 z-score [-0.723 (0.2286)], ppFVC [-10.08% (3.3440)], FVC z-score [-0.750 (0.2757)], FEV1/FVC z-score [-0.057 (0.05461)], and an increase in ppFEV1/FVC [0.2785 (0.3921)]. Transitioning from race-adjusted to race-neutral equations resulted in an increase of impairment for FVC and FEV1 and a threefold increase in subjects with abnormal values.Conclusions: Adoption of race-neutral reference equations resulted in a decrease in FEV1 and FVC values (z-scores and percent predicted) and an increase in severity of impairment.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31825"},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161210","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}

引用次数: 0

The Prognostic Role of Sarcopenia in Wilms Tumor: Does It Influence Surgical Outcomes and Survival? 骨骼肌减少症在肾母细胞瘤中的预后作用：它是否影响手术结果和生存？

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-27 DOI: 10.1002/pbc.31828

Antonio J Muñoz-Serrano, Carla Ramírez-Amoros, Saturnino Barrena Delfa, César Oterino, Gema Navarro, Pedro Rubio Aparicio, Antonio Pérez-Martínez, María José Martínez-Urrutia, Leopoldo Martínez

{"title":"The Prognostic Role of Sarcopenia in Wilms Tumor: Does It Influence Surgical Outcomes and Survival?","authors":"Antonio J Muñoz-Serrano, Carla Ramírez-Amoros, Saturnino Barrena Delfa, César Oterino, Gema Navarro, Pedro Rubio Aparicio, Antonio Pérez-Martínez, María José Martínez-Urrutia, Leopoldo Martínez","doi":"10.1002/pbc.31828","DOIUrl":"https://doi.org/10.1002/pbc.31828","url":null,"abstract":"Background: Sarcopenia (SP) is described as a prognostic factor in adult and pediatric cancer patients. However, there are no data regarding Wilms tumor (WT). We aimed to study the association between sarcopenia and oncological outcomes in WT.Methods: A retrospective study of patients diagnosed with WT at our institution between 2010 and 2022 was performed. SP at diagnosis was assessed by measuring the psoas muscle area (PMA) at the L4-L5 level on computed tomography (CT)/magnetic resonance imaging (MRI), and was defined as z-score values ≤2. Demographics, complications, and outcomes were analyzed.Results: Forty-eight patients (50% male) were included, with a mean age of 44.91 ± 31.12 months. Twelve patients (25%) had SP at diagnosis versus 36 (75%) who did not. Forty-one patients (85%) underwent total nephrectomy and seven (15%) nephron-sparing surgery (NSS). No statistical differences were found in demographics, risk group, or treatment between the SP and non-sarcopenic (NSP) groups. SP was associated with a higher rate of postsurgical complications (33% for the SP-group vs. 5.6% for the NSP-group; p = 0.023) and with a higher rate of relapse (33% vs. 14%, respectively; p = 0.09). With a median follow-up of 57.75 (1.87-150.8) months, event-free survival (EFS) was lower for the SP group (84.20 ± 17.45 vs. 135.40 ± 8.65 months, respectively; p = 0,08). One patient in the SP group died. The 5-year overall survival (OS) was 89% for the SP group versus 100% for the NSP group.Conclusions: Among our patients, SP can be considered a risk factor for complications in patients with WT and could be associated with poor outcomes, increasing the risk of relapse and decreasing EFS.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31828"},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161211","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}

引用次数: 0

Multi-Institution Harmonization of Infection Care Pathways for Pediatric Oncology. 多机构协调儿童肿瘤学感染护理途径。

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-26 DOI: 10.1002/pbc.31824

Adam P Yan, Ida Mehrdadi, Jennifer Seelisch, Paula D Robinson, Angela Punnett, Priya Patel, Catherine Mark, Alicia Koo, Donna L Johnston, Paul Gibson, Stephanie Cox, Sarah Alexander, Michaila Aitcheson, Deborah Tomlinson, L Lee Dupuis, Lillian Sung

{"title":"Multi-Institution Harmonization of Infection Care Pathways for Pediatric Oncology.","authors":"Adam P Yan, Ida Mehrdadi, Jennifer Seelisch, Paula D Robinson, Angela Punnett, Priya Patel, Catherine Mark, Alicia Koo, Donna L Johnston, Paul Gibson, Stephanie Cox, Sarah Alexander, Michaila Aitcheson, Deborah Tomlinson, L Lee Dupuis, Lillian Sung","doi":"10.1002/pbc.31824","DOIUrl":"https://doi.org/10.1002/pbc.31824","url":null,"abstract":"Purpose: Care pathways are an implementation tool to help bridge the gap between evidence-based clinical practice guidelines and clinical practice. At four pediatric cancer institutions in Ontario, Canada, institution-specific care pathways for the management of infection complications in pediatric oncology were created. To standardize care delivery approaches across institutions, a project to harmonize the institution-specific care pathways was undertaken.Methods: The institution-specific infection care pathways were compared. Discrepancies between the pathways were identified, and 33 care pathway components covering 10 clinical actions were prioritized for harmonization. An in-person harmonization meeting with representatives from all institutions was convened, where potential areas for harmonization were identified. At the end of the discussion of each clinical action, the institutional representatives gauged the feasibility of harmonization on a five-point Likert scale. A second virtual meeting was then held to finalize the harmonization plan.Results: Of the 33 care pathway components, harmonization was achieved for 25. Of the 10 components related to antibacterial and antifungal prophylaxis choice, timing, and indications, eight were harmonized. Harmonization was reached for 11 of 16 components related to the initial and ongoing management of febrile neutropenia. Harmonization was achieved for six of the seven components related to prolonged fever.Conclusion: Harmonization of infection care pathways across institutions was achieved. However, certain care pathway elements may not be amenable to harmonization due to differences in institutional resources, cultures, and priorities.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31824"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151503","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}

引用次数: 0

Infectious Morbidity During Pediatric Acute Myeloid Leukemia Chemotherapy in a High-Income Country: A 15-Year Population-Based Overview. 高收入国家儿童急性髓性白血病化疗期间的感染性发病率：一项基于人群的15年综述

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-26 DOI: 10.1002/pbc.31819

Emily R Schwartz, Kim Klein, Birgit I Lissenberg-Witte, Tom F W Wolfs, Valérie de Haas, Bianca Goemans, Natasja Dors, Marry M van den Heuvel-Eibrink, Rutger R G Knops, Wim J E Tissing, Birgitta A Versluys, C Michel Zwaan, Raphaële R L van Litsenburg, Gertjan J L Kaspers

{"title":"Infectious Morbidity During Pediatric Acute Myeloid Leukemia Chemotherapy in a High-Income Country: A 15-Year Population-Based Overview.","authors":"Emily R Schwartz, Kim Klein, Birgit I Lissenberg-Witte, Tom F W Wolfs, Valérie de Haas, Bianca Goemans, Natasja Dors, Marry M van den Heuvel-Eibrink, Rutger R G Knops, Wim J E Tissing, Birgitta A Versluys, C Michel Zwaan, Raphaële R L van Litsenburg, Gertjan J L Kaspers","doi":"10.1002/pbc.31819","DOIUrl":"https://doi.org/10.1002/pbc.31819","url":null,"abstract":"Introduction: Infection causes significant morbidity and mortality in pediatric acute myeloid leukemia (pAML). This study describes the incidence and risk factors of bloodstream infection (BSI) and invasive fungal infection (IFI) in pAML.Methods: A retrospective chart review was performed of patients treated according to the ANLL-97/AML-12 (N = 116), AML-15 (N = 60), or DB AML-01 (N = 67) protocols between 1998 and 2014. Cumulative incidence was analyzed for infectious outcomes (any BSI, viridans group streptococci [VGS-BSI], Gram-negative rod [GNR-BSI], IFI). Risk factors were analyzed in multivariable models. Recurrent event analyses were performed to evaluate whether previous infection(s) were related to subsequent infection.Results: The cumulative incidence of any BSI was 78%, VGS-BSI 35%, GNR-BSI 15%, and IFI 11% through Day 150. Incidence of GNR-BSI decreased over time; AML-15 hazard ratio ([HR] 0.37, 95% confidence interval [CI]: 0.14-0.98, p = 0.045) and DB AML-01 (HR 0.42, 95% CI: 0.18-0.97, p = 0.042) compared to ANLL-97/AML-12. White blood cell counts ≥20 × 109/L at diagnosis and older age were associated with lower infection risk. Recurrent event analyses showed a higher risk of subsequent BSI for patients who had two or more prior BSIs.Conclusion: Despite efforts to improve supportive care in pAML, only GNR-BSI cumulative incidence declined over time. Future studies should continue working toward decreasing the incidence of infection while maintaining treatment efficacy.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31819"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151499","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}

引用次数: 0

A Rare Case of Childhood Hemolytic Anemia due to NK-Large Granular Lymphocytic Leukemia. nk大颗粒淋巴细胞白血病致儿童溶血性贫血1例。

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-25 DOI: 10.1002/pbc.31804

Bingju Liu, Qi Wang, Yunfeng Lu, Guotao Guan, Ping Zhao, Yunpeng Dai, Liying Liu

引用次数: 0

Preoperative Radiotherapy in Patients With Localized Ewing Sarcoma Enrolled on AEWS1031: A Report From the Children's Oncology Group. AEWS1031登记的局部尤文氏肉瘤患者的术前放疗：一份来自儿童肿瘤组的报告

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-25 DOI: 10.1002/pbc.31820

Daniel J Indelicato, Alexandra K Callan, Safia K Ahmed, Mark Krailo, Natalie DelRocco, Allen B Buxton, Odion T Binitie, Alexander B Christ, Sandy Kessell, Paul J Chuba, Helen R Nadel, Bruce R Pawel, Richard Gorlick, Damon R Reed, Steven G DuBois, Katherine A Janeway, Patrick Leavey, Leo Mascarenhas, Nadia N Laack

引用次数: 0

Patterns of Direct Oral Anticoagulant Use in Pediatric Patients: Results From a Multicenter National Database. 儿科患者直接口服抗凝剂的使用模式：来自多中心国家数据库的结果。

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-25 DOI: 10.1002/pbc.31816

Molly Mack, Frederico Xavier, Meghan McCormick

{"title":"Patterns of Direct Oral Anticoagulant Use in Pediatric Patients: Results From a Multicenter National Database.","authors":"Molly Mack, Frederico Xavier, Meghan McCormick","doi":"10.1002/pbc.31816","DOIUrl":"https://doi.org/10.1002/pbc.31816","url":null,"abstract":"Background: Direct oral anticoagulants (DOACs) have quickly gained favor due to oral availability, favorable risk profile, and reduced lab monitoring. This study aims to evaluate trends in DOAC use among pediatric patients with new venous thrombotic events (VTE) and factors associated with their selection.Procedure: This was a retrospective study using the Pediatric Health Information System (PHIS) administrative database. We included initial inpatient encounters from 2014 to 2021 for children (age 0-18 years) with an ICD-9 or ICD-10 code for VTE. We compared characteristics of patients who received DOACs to those who did not, through descriptive and statistical analysis and evaluated factors associated with DOAC selection with logistic regression.Results: In 20,332 cases of new VTE, DOACs were administered in 810 encounters (3.98%), most commonly rivaroxaban (75.1% of cases). DOAC use increased over time to 12.0% of encounters in 2021. Patients who received DOACs had greater median age (16 vs. 4 years, p < 0.001), were more commonly female (51.6% vs. 46.7%, p = 0.007), had greater median income ($64,908 vs. $57,165, p < 0.001), and were more likely to carry private insurance (47% vs. 41%, p = 0.003). Patients who received DOACs had lower average hospitalization duration, hospitalization costs, and were less likely to have a complex chronic condition. On regression analysis, factors associated with DOAC use included older age, increased income, and geographic region (p < 0.05).Conclusions: DOACs are increasingly used in pediatric patients. Decision-making appears to be affected by patient age, medical comorbidities, and income, suggesting prescription trends may not be based on clinical evidence alone.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31816"},"PeriodicalIF":2.4,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143327","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}

引用次数: 0

The Impact of Sleep on Neurologic and Neurocognitive Complications in Children With Sickle Cell Disease: A Scoping Review. 睡眠对镰状细胞病儿童神经系统和神经认知并发症的影响：一项范围综述

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-25 DOI: 10.1002/pbc.31793

Rachel R Rice, Ambika G Chidambaram, Kiran Nandalike, Shaina M Willen

{"title":"The Impact of Sleep on Neurologic and Neurocognitive Complications in Children With Sickle Cell Disease: A Scoping Review.","authors":"Rachel R Rice, Ambika G Chidambaram, Kiran Nandalike, Shaina M Willen","doi":"10.1002/pbc.31793","DOIUrl":"https://doi.org/10.1002/pbc.31793","url":null,"abstract":"Sleep-disordered breathing (SDB), characterized by sleep fragmentation and hypoxia, is a prevalent yet underappreciated complication in children with sickle cell disease (SCD). The interplay between SDB and neurologic outcomes in SCD, including stroke and cognitive impairment, is an area of emerging clinical concern. The aim of this review is to provide an overview and synthesis of available data to improve understanding of the impact sleep disruption and SDB have on neurologic and neurocognitive complications in children with SCD. We conducted a comprehensive literature search across databases including Medline, PubMed, and Cochrane from inception to March 2023. Studies assessing neurologic outcomes (e.g., stroke, silent cerebral infarcts) or cognitive function in children with SCD in relation to SDB were included. A total of 542 studies were screened, with 21 meeting inclusion criteria. SDB was associated with adverse neurologic outcomes, including increased stroke risk, higher transcranial Doppler velocities, and cerebral vasculopathy. Neurocognitive deficits, including reduced IQ, verbal comprehension, and executive function, were linked to nocturnal hypoxemia and fragmented sleep. Treatment interventions such as adenotonsillectomy and positive airway pressure improved sleep quality and mitigated neurocognitive deficits. SDB exacerbates the neurologic burden in children with SCD through pathways involving hypoxia, oxidative stress, and inflammation. Screening and timely intervention for sleep disorders in this population are crucial to improving neurologic and cognitive outcomes.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31793"},"PeriodicalIF":2.4,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143337","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}

引用次数: 0

Treatment Experience Using a Micro-Induction Buprenorphine Protocol for Chronic Pain in Pediatric Sickle Cell Disease. 微诱导丁丙诺啡治疗小儿镰状细胞病慢性疼痛的经验

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-24 DOI: 10.1002/pbc.31731

Ashwin Patel, Grace Kalmus, Carlton Dampier, Ifeyinwa Osunkwo, Tamara New, Beatrice Gee, Elna Saah

{"title":"Treatment Experience Using a Micro-Induction Buprenorphine Protocol for Chronic Pain in Pediatric Sickle Cell Disease.","authors":"Ashwin Patel, Grace Kalmus, Carlton Dampier, Ifeyinwa Osunkwo, Tamara New, Beatrice Gee, Elna Saah","doi":"10.1002/pbc.31731","DOIUrl":"https://doi.org/10.1002/pbc.31731","url":null,"abstract":"Background: Patients with sickle cell disease (SCD) experience painful vaso-occlusive episodes that increase with age; a subset develops chronic pain (CP). CP is usually managed with acute pain management guidelines despite evidence of ineffectiveness. Buprenorphine (BUP), a partial opioid agonist, is a potent analgesic with less euphoric effect and a respiratory \"ceiling effect.\" BUP therefore provides an alternative \"harm reduction\" approach for CP management in pediatric SCD patients.Methods: This single urban center retrospective study assessed the feasibility of inpatient transition to BUP-containing analgesics in adolescents with SCD and CP. Patients aged 12-20 years who transitioned from full opioid agonists (FOA) to BUP between December 2020 and September 2022 were included. Acute care utilization, hospital length of stay, and FOA use in both inpatient and outpatient settings were compared pre- and post-BUP induction for up to a year.Results: Fourteen adolescents with SCD underwent inpatient BUP induction and maintenance therapy. Inpatient transition using a micro-induction approach was feasible and well tolerated in this population. There were low rates of adverse events, such as opioid withdrawal signs. Maintenance on BUP products was sustainable over the 1-year post-induction period. Three patients (21%) discontinued BUP during maintenance therapy. There was a significant reduction (p < 0.05) in acute care utilization, length of stay, and FOA use (both inpatient and outpatient).Conclusion: Inpatient micro-induction to BUP from FOA in adolescent SCD patients with CP is feasible with minimal signs of opioid withdrawal. This study suggests decreased acute care utilization with BUP.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31731"},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136205","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}

引用次数: 0

Wilms Tumor in Children with AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series. 患有AMER1/WTX种系致病变异的儿童Wilms肿瘤：一个多中心病例系列。

IF 2.4 3区医学

Pediatric Blood & Cancer Pub Date : 2025-05-21 DOI: 10.1002/pbc.31798

Insiyah Campwala, Jaclyn Schienda, Andrew J Murphy, Basil Hashimi, Taylor Perry, Nicholas Cost, Junne Kamihara, Elizabeth A Mullen, Teresa Santiago, Marcus M Malek

{"title":"Wilms Tumor in Children with AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series.","authors":"Insiyah Campwala, Jaclyn Schienda, Andrew J Murphy, Basil Hashimi, Taylor Perry, Nicholas Cost, Junne Kamihara, Elizabeth A Mullen, Teresa Santiago, Marcus M Malek","doi":"10.1002/pbc.31798","DOIUrl":"https://doi.org/10.1002/pbc.31798","url":null,"abstract":"Background: 10-15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).Methods: A multicenter retrospective case series was conducted reviewing patients with AMER1 germline variants and WT from 2012 to 2023. Results were compared with published data from six other children.Results: Four female children were identified. Age at WT diagnosis ranged from 5 months to 8 years. One patient had familial AMER1 germline variant. Stage of disease ranged from I to IV, and three children required adjuvant therapy. Nephrogenic rests were noted in two patients. Two patients underwent open partial nephrectomy, and two underwent open radical nephrectomy. One patient had mild kidney disease post-resection, and no patients had recurrence or died from disease progression.Conclusion: Our cohort of four patients, combined with the six patients with WT and AMER1 pathogenic variants previously reported, with 20% (two out of 10) collective incidence of bilateral tumors, support AMER1 as a WT predisposition gene warranting surveillance. Collectively, age of WT diagnosis ranged from 5 months to 12 years, which demonstrates potential for prolonged risk. Pathogenic AMER1 germline variants were previously thought to have 100% penetrance; however, one of four current cases did not exhibit an OSCS phenotype. We report the first documented case of a familial AMER1 germline variant and WT. We conclude that nephron-sparing surgery and familial genetic testing should be considered for children with AMER1 germline variants and WT.","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31798"},"PeriodicalIF":2.4,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120287","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}

引用次数: 0