Pediatric Cancer Predisposition

A special issue of Cancers (ISSN 2072-6694).

Deadline for manuscript submissions: closed (1 August 2022) | Viewed by 10056

Special Issue Editors


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Guest Editor
Pediatric Oncology and Hematology, University of Bologna, 40138 Bologna, Italy
Interests: hematopoietic stem cell transplantation; pediatric AML; pediatric MDS; cancer predisposing syndromes; gut microbiome; cellular therapies; pediatric hematology/oncology
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Guest Editor
Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Interests: pediatric hematology-oncology; pediatric central nervous system tumors; cell and gene therapy; target therapy and immunotherapy; phase I studies; molecular biology; cancer predisposition syndromes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The advances in sequencing techniques and broadly diffused exome/genome-wide sequencing analytical approaches in cancer patients have provided intriguing insights into cancer predisposing conditions. It is difficult to estimate the prevalence of childhood cancer attributable to genetic predisposition, but recent reports suggest that at least 10% of pediatric cancer patients harbor a germline mutation in a cancer predisposition gene. Germline genetic variants contribute to a substantial proportion of cases of cancer in childhood and adolescence. These mutations are often associated with complex syndromic phenotypes with multisystem involvement and represent diagnostic, clinical, and ethical challenges for physicians. At the same time, many acquired mutations in tumor suppressor genes and oncogenes have been associated with genetic susceptibility to cancer, representing the ‘first hits’ in a multistep mutational process. Although some of these loci have been functionally dissected, the underlying biology of most of them remains elusive.

However, most of these conditions, due to the low number of patients, are poorly described. Advances in our understanding of heritable conditions and clinical presentations will profoundly impact the management of these patients. New challenges in the surveillance and treatment arise from the possibility to identify predisposing factors prior to cancer onset. This comprehension may play a pivotal role in the future development of precision medicine and personalized interventions.

This Special Issue, “Pediatric Cancer Predisposition”, will focus on the clinical characterization, functional understanding, and management of acquired and inherited genetic factors in children and adolescents that predispose them to cancer.

Authors are invited to submit original research or review papers addressing the abovementioned topic.

Dr. Riccardo Masetti
Dr. Angela Mastronuzzi
Guest Editors

Manuscript Submission Information

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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.

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Keywords

  • predisposition to cancer
  • pediatric cancer predisposition
  • germline mutations
  • cancer-prone diseases

Published Papers (3 papers)

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Review

20 pages, 598 KiB  
Review
Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy
by Linda Rossini, Caterina Durante, Silvia Bresolin, Enrico Opocher, Antonio Marzollo and Alessandra Biffi
Cancers 2022, 14(15), 3741; https://doi.org/10.3390/cancers14153741 - 31 Jul 2022
Cited by 7 | Viewed by 2392
Abstract
In the past recent years, the expanding use of next-generation sequencing has led to the discovery of new cancer predisposition syndromes (CPSs), which are now known to be responsible for up to 10% of childhood cancers. As knowledge in the field is in [...] Read more.
In the past recent years, the expanding use of next-generation sequencing has led to the discovery of new cancer predisposition syndromes (CPSs), which are now known to be responsible for up to 10% of childhood cancers. As knowledge in the field is in constant evolution, except for a few “classic” CPSs, there is no consensus about when and how to perform germline genetic diagnostic studies in cancer-bearing children. Several clinical screening tools have been proposed to help identify the patients who carry higher risk, with heterogeneous strategies and results. After introducing the main clinical and molecular features of several CPSs predisposing to solid and hematological malignancies, we compare the available clinical evidence on CPS prevalence in pediatric cancer patients and on the most used decision-support tools in identifying the patients who could benefit from genetic counseling and/or direct genetic testing. This analysis highlighted that a personalized stepwise approach employing clinical screening tools followed by sequencing in high-risk patients might be a reasonable and cost-effective strategy in the care of children with cancer. Full article
(This article belongs to the Special Issue Pediatric Cancer Predisposition)
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24 pages, 1451 KiB  
Review
Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review
by Aleksandra Filipiuk, Agata Kozakiewicz, Kamil Kośmider, Monika Lejman and Joanna Zawitkowska
Cancers 2022, 14(15), 3569; https://doi.org/10.3390/cancers14153569 - 22 Jul 2022
Cited by 1 | Viewed by 2510
Abstract
The view of paediatric cancer as a genetic disease arises as genetic research develops. Germline mutations in cancer predisposition genes have been identified in about 10% of children. Paediatric cancers are characterized by heterogeneity in the types of genetic alterations that drive tumourigenesis. [...] Read more.
The view of paediatric cancer as a genetic disease arises as genetic research develops. Germline mutations in cancer predisposition genes have been identified in about 10% of children. Paediatric cancers are characterized by heterogeneity in the types of genetic alterations that drive tumourigenesis. Interactions between germline and somatic mutations are a key determinant of cancer development. In 40% of patients, the family history does not predict the presence of inherited cancer predisposition syndromes and many cases go undetected. Paediatricians should be aware of specific symptoms, which highlight the need of evaluation for cancer syndromes. The quickest possible identification of such syndromes is of key importance, due to the possibility of early detection of neoplasms, followed by presymptomatic genetic testing of relatives, implementation of appropriate clinical procedures (e.g., avoiding radiotherapy), prophylactic surgical resection of organs at risk, or searching for donors of hematopoietic stem cells. Targetable driver mutations and corresponding signalling pathways provide a novel precision medicine strategy.Therefore, there is a need for multi-disciplinary cooperation between a paediatrician, an oncologist, a geneticist, and a psychologist during the surveillance of families with an increased cancer risk. This review aimed to emphasize the role of cancer-predisposition gene diagnostics in the genetic surveillance and medical care in paediatric oncology. Full article
(This article belongs to the Special Issue Pediatric Cancer Predisposition)
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14 pages, 1655 KiB  
Review
Role of CBL Mutations in Cancer and Non-Malignant Phenotype
by Davide Leardini, Daria Messelodi, Edoardo Muratore, Francesco Baccelli, Salvatore N. Bertuccio, Laura Anselmi, Andrea Pession and Riccardo Masetti
Cancers 2022, 14(3), 839; https://doi.org/10.3390/cancers14030839 - 8 Feb 2022
Cited by 16 | Viewed by 4126
Abstract
CBL plays a key role in different cell pathways, mainly related to cancer onset and progression, hematopoietic development and T cell receptor regulation. Somatic CBL mutations have been reported in a variety of malignancies, ranging from acute myeloid leukemia to lung cancer. Growing [...] Read more.
CBL plays a key role in different cell pathways, mainly related to cancer onset and progression, hematopoietic development and T cell receptor regulation. Somatic CBL mutations have been reported in a variety of malignancies, ranging from acute myeloid leukemia to lung cancer. Growing evidence have defined the clinical spectrum of germline CBL mutations configuring the so-called CBL syndrome; a cancer-predisposing condition that also includes multisystemic involvement characterized by variable phenotypic expression and expressivity. This review provides a comprehensive overview of the molecular mechanisms in which CBL exerts its function and describes the clinical manifestation of CBL mutations in humans. Full article
(This article belongs to the Special Issue Pediatric Cancer Predisposition)
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