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Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: 30 November 2026 | Viewed by 13934

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Prof. Dr. Hermann L. Müller

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Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany
Interests: pediatric oncology and endocrinology; late effects after pediatric oncological disease; neuro-endocrinology; mechanisms of satiety regulation; diagnostics and treatment of hypothalamic obesity; craniopharyngioma
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Dear Colleagues,

The cancer mortality rate—the number of deaths due to cancer per 100,000 people per year—among children and adolescents younger than 20 years declined by more than 50% from 1975 to 2022. It dropped from 5.1 per 100,000 children and adolescents in 1975 to 2.2 per 100,000 children and adolescents in 2022. Reasons for this success are risk stratification according to molecular profiling, modern diagnostic and therapeutic techniques, such as MRI imaging, proton beam therapy, targeted therapy, immunological approaches, and others.

The special issue on “Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome” wants to present the wide range of pediatric oncological diseases and current approaches in diagnosis, treatment .

Prof. Dr. Hermann L. Müller
Guest Editor

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Keywords

pediatric oncology
leukemia
sarcoma
brain tumor
chemotherapy
irradiation
targeted therapy
sequelae

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Published Papers (8 papers)

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Research

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15 pages, 267 KB

Open AccessArticle

Treatment Priorities in Craniopharyngioma: Perspectives of Survivors and Caregivers

by Nathalie Kayadjanian and Eugenie A. Hsu

Biomedicines 2026, 14(3), 664; https://doi.org/10.3390/biomedicines14030664 - 14 Mar 2026

Viewed by 976

Abstract

Background/Objectives: While the number and severity of comorbidities affecting survivors of craniopharyngioma (CP) are well documented, little is known about the perspectives of caregivers and survivors regarding treatment priorities. This study aimed to describe the views of caregivers and self-reported survivors on the comorbidities that most significantly impact CP survivors and to identify areas where new treatments are most needed. Methods: Completed surveys of 161 participants recruited in the hypothalamic–pituitary brain tumor patient registry were analyzed. Results: Participants represented 40% caregivers (mostly children) and 60% adult CP survivors, with notable differences in disease duration, age, CP onset, and living conditions. Seventeen health challenges were identified as most important by more than 50% of participants, including symptoms characteristic of hypothalamic dysfunction, neurological issues, and visual impairment. Notably, those differed from the most frequently experienced symptoms. No significant differences emerged between the two groups except for polydipsia, which had a greater impact on self-reported survivors. Most challenges primarily affected the survivors’ daily functioning; however, abnormal social behaviors equally impaired their ability to achieve long-term goals. Temperature dysregulation was the only symptom not deemed very or extremely important in prioritizing new treatment development. Both groups generally aligned on treatment priorities, though survivors placed a modest but significantly greater importance on fatigue and excessive daytime sleepiness, while caregivers placed a modest but significantly greater importance on obesity. Conclusions: Real-world survivor and caregiver perspectives on priority symptoms and treatments can inform care management, strengthen support strategies, and guide patient-focused drug development meaningful to CP survivors. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

18 pages, 2912 KB

Open AccessArticle

Correlation Between Endocrine and Other Clinical Factors with Peripapillary Retinal Nerve Fiber Layer Thickness After Surgical Treatment of Pediatric Craniopharyngioma

by Agnieszka Bogusz-Wójcik, Klaudia Rakusiewicz-Krasnodębska, Wojciech Hautz, Maciej Jaworski, Paweł Kowalczyk and Elżbieta Moszczyńska

Biomedicines 2026, 14(1), 239; https://doi.org/10.3390/biomedicines14010239 - 21 Jan 2026

Cited by 1 | Viewed by 845

Abstract

Background: Visual dysfunction resulting from damage to the optic nerve and retinal neurons represents a significant concern in the postoperative management of childhood-onset craniopharyngioma (CP) survivors. The study aims to evaluate the influence of clinical parameters assessed in patients before and after neurosurgery of CP on peripapillary retinal nerve fiber layer (RNFL) thickness results, using optical coherence tomography (OCT) as early markers of compressive neuropathy. Methods: This study retrospectively examined 73 eyes from 38 individuals diagnosed with CP and 64 eyes from 32 healthy controls matched for age and sex. All patients in the study group underwent a complete endocrine examination before and after surgery. Moreover, all participants in both groups underwent a thorough ophthalmological examination and OCT imaging. The average RNFL thickness was analyzed, along with the RNFL in the superior and inferior sectors and in eight peripapillary sectors around the optic nerve. Clinical variables were analyzed to assess how they relate to alterations in RNFL thickness within specific sectors. Results: After surgery, the peripapillary RNFL thickness was much lower in the CP group than in the healthy control group. Preoperative factors significantly affecting RNFL reduction are as follows: age below 5 years at the time of diagnosis, birth in the country, optic disc oedema, delayed puberty, arginine vasopressin deficiency (AVD), growth hormone deficiency (GHD), hyperprolactinemia, and the degree of preoperative hypothalamic involvement. Moreover, syndrome of inappropriate secretion of antidiuretic hormone (SIADH), as well as the end of AVD, memory disorder and hyperfagia after surgery, correlated with damage to RNFL. Conclusions: CP causes significant thinning of the RNFL, which demonstrates the tumor’s impact on the visual pathway. Monitoring optic nerve damage and assessing outcomes after surgery can be performed effectively using OCT. Additionally, the relationship between RNFL thickness in specific areas and clinical indicators can provide vital information for diagnosing and monitoring. This highlights their usefulness in forecasting visual results. As a result, ongoing RNFL assessments should be part of the long-term management of CP patients to improve visual outlook and identify ongoing or remaining damage. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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13 pages, 1435 KB

Open AccessArticle

Cytogenetic Abnormalities in Pediatric Myelodysplastic Syndrome: Insights on the Disease Biology and Impact on Leukemic Evolution

by Beatriz Ferreira da Silva, Viviane Lamim Lovatel, Gabriela Farias Lima, Giulia Miceli Giglio Rodrigues, Maria Luiza Rocha da Rosa Borges, Rita de Cássia Barbosa Tavares, Amanda Suhett Fonte, Patricia Regina Cavalcanti Barbosa Horn, Marilza de Moura Ribeiro-Carvalho, Maria Helena Faria Ornellas de Souza, Ana Paula Silva Bueno, Elaine Sobral Costa, Terezinha de Jesus Salles and Teresa de Souza Fernandez

Biomedicines 2025, 13(12), 2923; https://doi.org/10.3390/biomedicines13122923 - 28 Nov 2025

Cited by 1 | Viewed by 899

Abstract

Background/Objectives: Pediatric myelodysplastic syndrome (pMDS) is a rare, heterogeneous, clonal hematopoietic stem cell disease with a risk of evolution to acute myeloid leukemia (AML). Clonal cytogenetic abnormalities are present in 30–60% of pMDS. However, unlike in adults, the prognostic significance of chromosomal alterations, particularly their role in predicting evolution to AML, remains limited in pMDS. To acknowledge this gap, we studied the cytogenetic abnormalities in pMDS and analyzed their associations with subtypes and evolution to AML. Furthermore, in the Discussion Section, we pointed out key genes involved in these chromosomal alterations. Methods: Cytogenetic analysis was performed on 193 pediatric patients using G-banding and fluorescence in situ hybridization. Results: Abnormal karyotypes were observed in 43.5% (84/193) of patients, mainly in the advanced subtype. The main chromosomal alterations were monosomy 7 (−7) in 14% of the cases (12/84), deletion of the long arm of chromosome 11 [del(11q)] in 12% (10/84) and both trisomy 8 (+8) and deletion of the long arm of chromosome 7 [del(7q)] in 8% (7/84). Evolution from MDS to AML was observed in 22% of the patients (42/193), and it was associated with complex karyotypes, del(11q), −7/del(7q), and +8. Conclusions: Our results suggest that specific chromosomal alterations, such as del(11q), del(7q), and +8, may predict evolution to AML and might be considered high-risk cytogenetic markers in pMDS. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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9 pages, 883 KB

Open AccessArticle

RB1 Sequence Variants in Retinoblastoma: Analysis of RB1 Variants in a Database for Correlation with pRB Protein Domains and Clinical Presentation

by Nicohol Tovar Martelo and Irene Szijan

Biomedicines 2025, 13(11), 2693; https://doi.org/10.3390/biomedicines13112693 - 2 Nov 2025

Cited by 1 | Viewed by 1440

Abstract

Background: Retinoblastoma (RB) is the most common pediatric ocular tumor that occurs due to the biallelic inactivation of the RB1 tumor suppressor gene. RB may be unilateral or bilateral and is hereditary in 50% of cases. An inactivation of the RB1 gene may occur due to gross rearrangements (20%) or due to small-length changes (80%): single nucleotide substitutions (SNVs) and insertions/deletions (INDELs). Objectives: Our objective was to study the frequency of the different RB1 variants present in patients with retinoblastoma and to correlate them with the functional domains of the pRb protein and with the clinical presentation. Methods: For this purpose, we analyzed all the clinically validated germline SNVs and INDELs annotated in the database. They were grouped into the pRb domains; contingency tables were made, and figures were constructed to compare the types of variants in the different domains between bilateral and unilateral patients. Results: The number of variants analyzed was 2103; 34% of them were nonsense, 34% INDELs, 22% splice-site and 10% missense. All these variants mainly gave rise to bilateral RB (88%); their frequency and distribution in relation to pRb domains varied between bilateral (Bi) and unilateral hereditary (Ug) RB. Nonsense variants occurred more frequently in Bi vs. Ug, whereas missense variants were more frequent in Ug vs. Bi. Indels and splice-site variants were not significantly different between Bi and Ug. The most frequent pRB location of variants was in the Pocket domain (the binding site of the E2F transcription factor). The slice-site of the consensus sequence most mutated was the first nucleotide of the donor, which is the driver of the splicing process. Conclusions: The highest percentage of variants in RB corresponded to nonsense substitutions and indels, mainly affecting the Pocket domain, which is the major functional site for the pRb regulatory process. These results indicate the predominance of the most pathogenic variants related to the bilateral presentation of retinoblastoma. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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11 pages, 1112 KB

Open AccessArticle

Thoracic MRI in Pediatric Oncology: Feasibility and Image Quality of Post-Contrast Free-Breathing Radial 3D T1 Weighted Imaging

by Patricia Tischendorf, Marc-David Künnemann, Tobias Krähling, Jan Hendrik Lange, Walter Heindel and Laura Beck

Biomedicines 2025, 13(9), 2302; https://doi.org/10.3390/biomedicines13092302 - 19 Sep 2025

Cited by 2 | Viewed by 1663

Abstract

Objectives: To compare the feasibility and image quality of a post-contrast free-breathing radial stack-of-stars 3D T1w turbo-field echo Dixon sequence (3D T1w VANE mDIXON) with a conventional cartesian breath-hold 3D T1w fast-field echo mDIXON sequence in pediatric oncology patients undergoing chest MRI. Methods: A total of 48 children (34 females; mean age 5.3 ± 3.7 years) underwent contrast-enhanced chest MRI, with 24 examined using the 3D T1w VANE mDIXON sequence and 24 with a conventional breath-hold 3D T1w mDIXON sequence. Image quality was independently assessed by three radiologists using a 5-point scale. Signal-to-noise ratio (SNR) was measured at two anatomical sites, a homogeneous paraspinal muscle region (SNR_muscle) and the liver apex (SNR_liver), while avoiding vessels and signal inhomogeneities. The presence of respiratory artifacts, total imaging time, and the need for general anesthesia or sedation were recorded. Interobserver agreement was determined using Fleiss’s kappa (ϰ), and mean SNR values were compared between groups using an independent samples t-test. Results: The 3D T1w VANE mDIXON sequence yielded significantly higher SNR_muscle and SNR_liver (530 ± 120; 570 ± 110 vs. 370 ± 110; 400 ± 90; p < 0.001), improved diagnostic image quality by approximately 25%, and reduced respiratory artifacts by about 23%. Interobserver agreement was almost perfect. Importantly, the need for general anesthesia was significantly reduced using the 3D T1w VANE mDIXON (p < 0.001). Conclusions: Free-breathing 3D T1w VANE mDIXON chest MRI is a feasible and effective imaging approach for pediatric oncology patients, offering superior image quality and reducing the need for general anesthesia compared to conventional methods. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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19 pages, 4406 KB

Open AccessArticle

L-Citrulline Improves Recovery of Enterocytes While Not Affecting Gut Microbiota in an In Vitro Model of Chemotherapy-Induced Gastrointestinal Mucositis

by Wally van der Laan, Pablo A. Gallardo Molina, Debby P. Y. Koonen, Hermie J. M. Harmsen and Wim J. E. Tissing

Biomedicines 2025, 13(9), 2244; https://doi.org/10.3390/biomedicines13092244 - 11 Sep 2025

Viewed by 2430

Abstract

Background/Objectives: Despite significant advancements in cancer treatment outcomes, side effects, such as gastrointestinal mucositis (GIM), continue to impair patients’ quality of life. The recent literature suggests L-citrulline as a novel treatment for GIM. However, no in vitro model to study the potential for L-citrulline as a treatment for GIM is currently available, and the effect of L-citrulline on the gut microbiota remains unclear. This study aims to propose a suitable in vitro model to study the effect of L-citrulline on the gut microbiota and to determine whether it can mitigate GIM. Methods: The CaCo-2 and T84 cell lines were cultured using cell impedance assays and treated with different doses of methotrexate and melphalan to select an appropriate model for L-citrulline research. The selected model was further used to investigate the impact of L-citrulline on gut microbiota cultured using microbial culture assays containing YCFAG. Results: Neither CaCo-2 nor T84 cells treated with methotrexate were suitable models for our study due to varying responses to treatment. T84 cells treated with 100 μg/mL melphalan demonstrated a consistent response, making them a suitable model for in vitro research on treatments for GIM. The use of L-citrulline demonstrated potential protective effects, as melphalan-treated enterocytes showed less cellular damage in its presence and slightly reduced enteroaggregative E. coli growth. Conclusions: L-Citrulline supplementation reduced epithelial cell injury due to melphalan, suggesting therapeutic potential. Further testing is required to determine its efficacy in vivo and clarify the mechanisms underlying this potential benefit. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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Review

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22 pages, 636 KB

Open AccessReview

Artificial Intelligence and Machine Learning in Pediatric Endocrine Tumors: Opportunities, Pitfalls, and a Roadmap for Trustworthy Clinical Translation

by Michaela Kuhlen, Fabio Hellmann, Elisabeth Pfaehler, Elisabeth André and Antje Redlich

Biomedicines 2026, 14(1), 146; https://doi.org/10.3390/biomedicines14010146 - 11 Jan 2026

Cited by 1 | Viewed by 1107

Abstract

Artificial intelligence (AI) and machine learning (ML) are reshaping cancer research and care. In pediatric oncology, early evidence—most robust in imaging—suggests value for diagnosis, risk stratification, and assessment of treatment response. Pediatric endocrine tumors are rare and heterogeneous, including intra- and extra-adrenal paraganglioma (PGL), adrenocortical tumors (ACT), differentiated and medullary thyroid carcinoma (DTC/MTC), and gastroenteropancreatic neuroendocrine neoplasms (GEP-NEN). Here, we provide a pediatric-first, entity-structured synthesis of AI/ML applications in endocrine tumors, paired with a methods-for-clinicians primer and a pediatric endocrine tumor guardrails checklist mapped to contemporary reporting/evaluation standards. We also outline a realistic EU-anchored roadmap for translation that leverages existing infrastructures (EXPeRT, ERN PaedCan). We find promising—yet preliminary—signals for early non-remission/recurrence modeling in pediatric DTC and interpretable survival prediction in pediatric ACT. For PGL and GEP-NEN, evidence remains adult-led (biochemical ML screening scores; CT/PET radiomics for metastatic risk or peptide receptor radionuclide therapy response) and serves primarily as methodological scaffolding for pediatrics. Cross-cutting insights include the centrality of calibration and validation hierarchy and the current limits of explainability (radiomics texture semantics; saliency ≠ mechanism). Translation is constrained by small datasets, domain shift across age groups and sites, limited external validation, and evolving regulatory expectations. We close with pragmatic, clinically anchored steps—benchmarks, multi-site pediatric validation, genotype-aware evaluation, and equity monitoring—to accelerate safe, equitable adoption in pediatric endocrine oncology. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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20 pages, 1331 KB

Open AccessReview

Sleep Disorders, Dysregulation of Circadian Rhythms, and Fatigue After Craniopharyngioma—A Narrative Review

by Hermann L. Müller

Biomedicines 2025, 13(10), 2356; https://doi.org/10.3390/biomedicines13102356 - 26 Sep 2025

Cited by 3 | Viewed by 2264

Abstract

Introduction: Tumor- and/or treatment-associated hypothalamic damage results in reduced quality of life and increased morbidity due to sleep disorders in survivors of craniopharyngioma. Methods: The narrative review is based on a search of Web of Science, MEDLINE/PubMed, and Embase databases for the identification of publications. The search terms craniopharyngioma, sleep disorders, fatigue, and daytime sleepiness were used. Selected English language papers published 1970–2025 were included. Results: Circadian rhythms (wakefulness and sleep) are controlled by hypothalamic suprachiasmatic nuclei and regulated by melatonin. A dysregulation of circadian rhythms due to altered melatonin secretion can be observed in craniopharyngioma with hypothalamic involvement. Furthermore, sleep quality is regulated by lateral hypothalamic areas, the ventrolateral preoptic nucleus, and monoaminergic nuclei which function as the arousal system. Flexible changes between sleep and wakefulness can be achieved through interaction of arousal and sleep-promoting systems named “flip–flop” switch. Insomnia can be the result of damage to the ventrolateral preoptic nucleus. Excessive daytime sleepiness and disrupted sleep patterns can be observed due to dysregulation of lateral hypothalamic areas. Obesity, chronic fatigue, headache, and excessive daytime sleepiness can be the result of poor sleep quality. “Primary” hypothalamic sleep dysfunction, including narcolepsy, dysregulated sleep–wake cycles, and hypersomnia, can be observed due to hypothalamic dysfunction. “Secondary” sleep disturbances including obstructive sleep apnea, insufficient substitution medication for arginine vasopressin deficiency (nocturia), or psychosocial factors are sequelae in patients with craniopharyngioma and hypothalamic lesions. Conclusions: Further research on novel treatment approaches for sleep disorders due to hypothalamic syndrome are warranted to improve the outcome after craniopharyngioma. Full article

(This article belongs to the Special Issue Pediatric Tumors: Diagnosis, Pathogenesis, Treatment, and Outcome)

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