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Children
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Advances in Endocrine Pediatric Oncology
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Advances in Endocrine Pediatric Oncology

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Hematology & Oncology".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 4016

Special Issue Editors

Dr. Giulia Sapuppo

E-Mail Website
Guest Editor
Endocrinology, Garibaldi-Nesima Medical Center, Department of Clinical and Experimental Medicine, University of Catania, 95122 Catania, Italy
Interests: endocrine cancer; thyroid cancer; neuroendocrine cancers, differentiated thyroid cancer; anaplastic thyroid cancer; medullary thyroid cancer; radioactive iodine resistance; molecular alterations; targeted therapy; tyrosine kinase inhibitors; clinical trials; neck ultrasound, fine needle aspiration of thyroid and lymph node
Special Issues, Collections and Topics in MDPI journals
Dr. Federica Martorana

E-Mail Website
Guest Editor
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Interests: breast cancer; clinical research; translational research; clinical trials; gynecological cancers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Manuscript submission is now open for a new article collection: “Advances in endocrine pediatric oncology”. As the Guest Editor, and on behalf of the editorial team, I invite you to submit your research to this collection.

The aim of the collection is to bring together the latest articles of the highest quality from researchers working in the area of endocrine cancer, especially those relating to pediatric patients.

Endocrine and neuroendocrine cancers represent heterogeneous diseases that are commonly onset from endocrine cells. These neoplasms are rare at all ages and, therefore, especially in the pediatric age, may be part of genetic syndromes such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2A and MEN 2B), Von Hippel–Lindau disease, familial hyperparathyroidism, Carney complex disease, etc.

As rare diseases, epidemiology, diagnosis and treatment are often challenging. Moreover, previous publications have concerned small series, and therefore only refer the expertise of single centers. However, in recent years, there has been an improvement in the biological and pathogenetic knowledge of these diseases and new effective drugs have been identified.

The aim of this Special Issue is to highlight current state-of-the-art approaches in addition to possible future perspectives related to epidemiological, diagnostic, prognostic, genetic and therapeutic approaches/innovations to endocrine pediatric cancer, as well as evaluate the effectiveness of the currently available therapies.

We welcome original articles, communications and reviews dealing with different aspects of endocrine pediatric cancer, with particular interest in innovative and original strategies.

The articles collected in this Special Issue will further enhance our knowledge and understanding of these rare pediatric cancers and drive the development of novel approaches.

Dr. Giulia Sapuppo
Dr. Federica Martorana
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 short 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. Children is an international peer-reviewed open access monthly 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 2400 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

  • thyroid pediatric cancer
  • endocrine cancer
  • endocrine genetic syndromes
  • neuroendocrine cancers
  • epidemiology and risk factors
  • short- and long-term outcomes
  • new therapy

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (2 papers)

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15 pages, 2462 KiB  
Article
The Price of Success—The Long-Term Outcomes of Children with Craniopharyngioma—Two Institutions’ Experience
by Aleksandra Napieralska, Marek Mandera, Ryszard Sordyl, Aleksandra Antosz, Barbara Bekman and Sławomir Blamek
Children 2023, 10(7), 1272; https://doi.org/10.3390/children10071272 - 24 Jul 2023
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Abstract
An analysis of patients below 21 years old treated due to craniopharyngioma in the years 1979–2022 was performed with the aim of evaluating the long-term outcome and treatment side-effects. The standard statistical tests were used, and 56 patients with a median age of [...] Read more.
An analysis of patients below 21 years old treated due to craniopharyngioma in the years 1979–2022 was performed with the aim of evaluating the long-term outcome and treatment side-effects. The standard statistical tests were used, and 56 patients with a median age of 11 years were evaluated. Surgery was the primary treatment in 55 patients; however, in only 29 it was the only neurosurgical intervention. Eighteen children were treated with radiotherapy (RTH) in primary treatment. The most common neurosurgical side effects observed were visual and endocrine deficits and obesity, which were diagnosed in 27 (49%), 50 (91%), and 25 (52%) patients, respectively. Complications after RTH were diagnosed in 14 cases (32%). During the median follow-up of 8.4 years (range: 0.4–39.8 years), six patients died and the 5- and 10-year overall survival was 97% and 93%, respectively. Five-year progression-free survival for gross total resection, resection with adjuvant RTH, and non-radical resection alone was 83%, 68%, and 23%, respectively (p = 0.0006). Surgery combined with RTH provides comparable results to gross tumor resection in terms of oncologic outcome in craniopharyngioma patients. Adjuvant irradiation applied in primary or salvage treatment improves disease control. The rate of complications is high irrespective of improved surgical and radiotherapeutic management. Full article
(This article belongs to the Special Issue Advances in Endocrine Pediatric Oncology)
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7 pages, 729 KiB  
Case Report
An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline TP53 p.Phe338Leu Tetramerisation Domain Variant
by Justyna Walenciak, Zuzanna Urbanska, Agata Pastorczak, Katarzyna Babol-Pokora, Kamila Wypyszczak, Ewa Bien, Aleksandra Gawlowska-Marciniak, Jozef Kobos, Wieslawa Grajkowska, Joanna Smyczynska, Wojciech Mlynarski and Szymon Janczar
Children 2023, 10(11), 1793; https://doi.org/10.3390/children10111793 - 7 Nov 2023
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Abstract
Adrenocortical carcinoma (ACC) is a rare cancer in childhood. ACC is frequently associated with germline TP53 variants, with founder effects especially due to the p.Arg337His mutation. ACC leads to the secretion of adrenocortical hormones, resulting in endocrine syndromes, which is the usual trigger [...] Read more.
Adrenocortical carcinoma (ACC) is a rare cancer in childhood. ACC is frequently associated with germline TP53 variants, with founder effects especially due to the p.Arg337His mutation. ACC leads to the secretion of adrenocortical hormones, resulting in endocrine syndromes, which is the usual trigger for establishing the diagnosis. We present a surprising ACC pathology in a non-secreting, ectopic retroperitoneal tumour in a 4-year-old boy, successfully controlled with chemotherapy and mitotane after microscopically incomplete tumour resection with spillage. Genomic analysis (gene panel sequencing and copy-number microarray) demonstrated a novel p.Phe338Leu tetramerisation domain (TD) TP53 variant in the proband and his cancer-free mother and a monoallelic deletion encompassing the TP53 locus in cancer tissue, consistent with cancer-predisposition syndrome. While the recurrent p.Arg337His variant translates into high ACC risk, residue 338 and, in general, TD domain variants drive heterogeneous clinical scenarios, despite generally being considered less disruptive than TP53 DNA-binding domain mutations. Full article
(This article belongs to the Special Issue Advances in Endocrine Pediatric Oncology)
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