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Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention...
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Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention (2nd Edition)

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Pediatric Oncology".

Deadline for manuscript submissions: 1 May 2025 | Viewed by 3295

Special Issue Editors

Dr. Antonio Ruggiero

E-Mail Website
Guest Editor
Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro Cuore, 00168 Rome, Italy
Interests: clinical pharmacology; antineoplastic drugs; clinical trial; pediatric drugs
Special Issues, Collections and Topics in MDPI journals
Dr. Stefano Mastrangelo

E-Mail Website
Guest Editor
Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Università Cattolica del Sacro Cuore, di Roma Largo A. Gemelli, 8, 00168 Roma, Italy
Interests: pediatric hematology; pediatric oncology; neuroblastoma; pediatric brain tumors; sarcomas
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are excited to invite you to contribute to this Special Issue, which is the second edition of “Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention” (https://www.mdpi.com/journal/cancers/special_issues/Rare_Tumors).

Rare cancers constitute a heterogeneous family of pathologies that can affect almost any part of the body. Rare cancers are associated with a series of challenges and issues related to their status as rare diseases. The difficulties involve both the patient’s diagnostic and therapeutic pathway and the impact on the efficiency of national healthcare systems.

Regarding rare diseases, the possibility of conducting clinical studies on both diagnostic and therapeutic aspects is limited. Therefore, national and international collaborations have been active for many years in order to conduct meaningful clinical studies. These scientific and clinical networks have made it possible to achieve significant results in the field of pediatric oncology. Nevertheless, not all children and adolescents with tumors have benefited from these efforts. Rare cancers are therefore ‘orphan’ diseases characterized by limited clinical experience, a lack of shared guidelines and little investment in research. However, in recent years, these rare diseases have attracted more attention and a number of collaborative groups on rare cancers have been established, with the aim of fostering the circulation and exchange of useful information in both the diagnostic and therapeutic phases.

These observations confirm that young patients with rare tumors need specific diagnostic and therapeutic approaches and represent a real challenge for the scientific world of pediatric oncology.

This Special Issue will highlight the current state of the art and trends in the diagnosis, treatment and prevention of rare tumors in children.

In this Special Issue, original research articles and reviews are welcome.

I look forward to receiving your contributions.

Dr. Antonio Ruggiero
Dr. Stefano Mastrangelo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric oncology
  • pediatric drugs
  • clinical pharmacology

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Published Papers (3 papers)

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Research

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15 pages, 1261 KiB  
Article
Multidisciplinary Tumor Board Evaluation of Pediatric Patients with Adrenocortical Tumors Across Seven International Centers
by Maria Riedmeier, Wiebke Schlötelburg, Shipra Agarwal, Ahitagni Biswas, Saniye Ekinci, Martin Fassnacht, Maria C. B. Villares Fragoso, E. Nazli Gonc, Melis Gultekin, Mithat Haliloglu, Vishesh Jain, Manisha Jana, Dominika Janus, Jagdish Prasad Meena, Jessica Munarin, Diclehan Orhan, Jaydira Del Rivero, Rajni Sharma, Gerdi Tuli, Bilgehan Yalcin and Verena Wiegeringadd Show full author list remove Hide full author list
Cancers 2025, 17(6), 1014; https://doi.org/10.3390/cancers17061014 - 17 Mar 2025
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Abstract
Background: The management of rare tumors at reference centers with specialized multidisciplinary tumor boards (MTBs) improves patient survival. No international standardized diagnostic and treatment recommendations for pediatric patients with adrenocortical carcinoma (ACC) exist so far. The aim of this case-based study is to [...] Read more.
Background: The management of rare tumors at reference centers with specialized multidisciplinary tumor boards (MTBs) improves patient survival. No international standardized diagnostic and treatment recommendations for pediatric patients with adrenocortical carcinoma (ACC) exist so far. The aim of this case-based study is to determine how congruent treatment recommendations are in different specialized institutions in different countries. Methods: In this cross-sectional, case-based survey study, five anonymized patient cases, including imaging data of pediatric adrenocortical carcinomas (pACCs), were distributed to seven international specialized centers located in Brazil, Germany, India, Italy, Poland, Turkey, and the USA. The centers were tasked with providing recommendations regarding the treatment sequence and modalities, as well as indicating the level of consensus on these decisions within their MTBs. For each case, the treatment approach recommended by the highest number of centers was recorded to calculate an agreement percentage relative to all treatment recommendations made. The consensus level for each case was determined on a scale of 1 to 10, with higher scores indicating greater agreement among MTB members. Results: A total of five patient cases were discussed across seven MTBs, yielding a total of 34 treatment recommendations. The agreement percentages for the primary therapeutic approach for each case were as follows: primary therapeutic approach: 88.6%; surgical approaches: 51.8%; and systemic chemotherapy recommendations: 53%. Conclusions: This study represents the first case-based analysis of international inter-center agreement on pediatric ACC management. Inter-center agreement regarding treatment allocation and sequencing was low, while the level of consensus within each MTB was high. These findings point to potentially significant and clinically relevant differences in treatment standards across centers, highlighting the need for international collaboration and standardized diagnostic and therapeutic recommendations, especially for rare tumors. Increased case-based exchanges between centers are essential to reduce the substantial discrepancies observed here and to further standardize the management of pediatric patients with ACC. Full article
(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention (2nd Edition))
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13 pages, 279 KiB  
Article
Characteristics and Management of Children with Appendiceal Neuroendocrine Neoplasms: A Single-Center Study
by Stefano Mastrangelo, Giorgio Attinà, Guido Rindi, Alberto Romano, Palma Maurizi and Antonio Ruggiero
Cancers 2024, 16(20), 3440; https://doi.org/10.3390/cancers16203440 - 10 Oct 2024
Cited by 1 | Viewed by 1099
Abstract
Background/Objectives: Appendiceal neuroendocrine neoplasms (ANENs) are usually found incidentally during histology examination after appendectomy for appendicitis. Due to their rarity in pediatric populations, there is no consensus on treatment or follow-up. The analysis of patients with ANENs of our and other studies will [...] Read more.
Background/Objectives: Appendiceal neuroendocrine neoplasms (ANENs) are usually found incidentally during histology examination after appendectomy for appendicitis. Due to their rarity in pediatric populations, there is no consensus on treatment or follow-up. The analysis of patients with ANENs of our and other studies will increase the understanding of this tumor. Methods: Pediatric patients with ANENs were uniformly managed at our center between 1998 and 2023. Patients’ presenting symptoms, surgery, tumor histology, post-surgical work-up, follow-up and outcome were analyzed. Results: Our report describes 17 patients with a diagnosis of ANEN after appendectomy. The median age was 14 years (range of 4–17 years). Tumors were located at the tip of the appendix in 58.8% of cases and only one had a diameter >1 cm. All were well-differentiated tumors with free resection margins. The submucosa was invaded in five cases, muscularis propria in eight and subserosa in four. Post-appendectomy work-up included tumor marker measurement, abdominal ultrasound and computed tomography or magnetic resonance imaging, chest X-ray and octreotide scintigraphy. No residual tumors or metastases were detected. Additional surgery was not necessary. Follow-up was carried out for a median duration of 6 years (range of 1–10 years). Only one patient was lost to follow-up and all other patients are alive without tumor recurrence. Conclusions: The tumor characteristics of our patients confirmed data from the literature. With the lack of a sufficient number of large prospective trials, it is important to add more information to confirm the benign nature and excellent outcome of this tumor, even without additional surgery. Consensus guidelines are needed for ANENs in pediatric populations. Full article
(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention (2nd Edition))

Review

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14 pages, 737 KiB  
Review
Congenital Dermatofibrosarcoma Protuberans—An Update on the Ongoing Diagnostic Challenges
by Fortunato Cassalia, Andrea Danese, Enrico Cocchi, Silvia Vaienti, Anna Bolzon, Ludovica Franceschin, Roberto Mazzetto, Francesca Caroppo, Davide Melandri and Anna Belloni Fortina
Cancers 2025, 17(1), 158; https://doi.org/10.3390/cancers17010158 - 6 Jan 2025
Cited by 1 | Viewed by 1085
Abstract
Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade sarcoma that presents diagnostic challenges due to its resemblance to benign lesions [...] Full article
(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention (2nd Edition))
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