Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.

Autor:	Hansford JR; Michael Rice Children's Hematology and Oncology Center, Women's and Children's Hospital; South Australia Health and Medical Research Institute; South Australia ImmunoGenomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia., Das A; Division of Hematology/Oncology, The Hospital for Sick Children; SickKids Research Institute; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., McGee RB; Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee., Nakano Y; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas., Brzezinski J; Division of Hematology/Oncology, The Hospital for Sick Children; SickKids Research Institute; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Scollon SR; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas., Rednam SP; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas., Schienda J; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts., Michaeli O; Division of Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Kim SY; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Center, Cincinnati, Ohio., Greer MC; Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children/Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Foulkes WD; Department of Human Genetics, McGill University, and Division of Medical Genetics, Departments of Specialized Medicine, McGill University Health Centre and Jewish General Hospital, Montreal, Quebec, Canada., Tabori U; Division of Hematology/Oncology, The Hospital for Sick Children; SickKids Research Institute; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Pajtler KW; Division of Pediatric Neurooncology, Hopp Children's Cancer Center Heidelberg (KiTZ); German Cancer Research Center Heidelberg (DKFZ) and Heidelberg University Hospital, Heidelberg; National Center for Tumor Diseases (NCT), Heidelberg, Germany., Pfister SM; Division of Pediatric Neurooncology, Hopp Children's Cancer Center Heidelberg (KiTZ); German Cancer Research Center Heidelberg (DKFZ) and Heidelberg University Hospital, Heidelberg; National Center for Tumor Diseases (NCT), Heidelberg, Germany., Brodeur GM; Department of Pediatrics, Division of Oncology, the Children's Hospital of Philadelphia, and the University of Pennsylvania/Perelman School of Medicine, Philadelphia, Pennsylvania., Kamihara J; Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.
Jazyk:	angličtina
Zdroj:	Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Jun 03; Vol. 30 (11), pp. 2342-2350.
DOI:	10.1158/1078-0432.CCR-23-4033
Abstrakt:	Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease etiology increases. Some children with brain tumors may present with nonmalignant phenotypic features of specific syndromes (e.g., nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch-repair deficiency), while others may present with a strong family history of cancer (e.g., Li-Fraumeni syndrome) or with a rare tumor commonly found in the context of germline predisposition (e.g., rhabdoid tumor predisposition syndrome). Approximately 50% of patients with a brain tumor may be the first in a family identified to have a predisposition. The past decade has witnessed a rapid expansion in our molecular understanding of CNS tumors. A significant proportion of CNS tumors are now well characterized and known to harbor specific genetic changes that can be found in the germline. Additional novel predisposition syndromes are also being described. Identification of these germline syndromes in individual patients has not only enabled cascade testing of family members and early tumor surveillance but also increasingly affected cancer management in those patients. Therefore, the AACR Cancer Predisposition Working Group chose to highlight these advances in CNS tumor predisposition and summarize and/or generate surveillance recommendations for established and more recently emerging pediatric brain tumor predisposition syndromes. (©2024 American Association for Cancer Research.)
Databáze:	MEDLINE
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