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Phacomatoses, genetic testing for personalisation of clinical management (part 1.)
, 1, 1, 2
Affiliations- 2nd Department of Paediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
- Department of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
open access
Abstract
Genetically determined disorders of tissue development, which are derived from the ecto-, endo- and mesoderm and develop in the early stages of foetal life, referred to as phacomatoses, constitute a large group of diseases predisposing to development of neoplasms. Early diagnosis, including identification of mutations and clinical evaluation, enables introduction of multidisciplinary care for patients with a confirmed diagnosis. Thus, the long-term prognosis and quality of patients’ life can be improved. The most common phacomatoses include neurofibromatosis types 1 and 2 and schwannomatosis.
Abstract
Genetically determined disorders of tissue development, which are derived from the ecto-, endo- and mesoderm and develop in the early stages of foetal life, referred to as phacomatoses, constitute a large group of diseases predisposing to development of neoplasms. Early diagnosis, including identification of mutations and clinical evaluation, enables introduction of multidisciplinary care for patients with a confirmed diagnosis. Thus, the long-term prognosis and quality of patients’ life can be improved. The most common phacomatoses include neurofibromatosis types 1 and 2 and schwannomatosis.
Keywords
phacomatoses; neurocutaneous diseases; neurofibromatosis 1; neurofibromatosis 2
About this articleTitle
Phacomatoses, genetic testing for personalisation of clinical management (part 1.)
Journal
Nowotwory. Journal of Oncology
Issue
Article type
Review paper
Pages
420-426
Published online
2021-12-06
Page views
5884
Article views/downloads
338
DOI
Bibliographic record
Nowotwory. Journal of Oncology 2021;71(6):420-426.
Keywords
phacomatoses
neurocutaneous diseases
neurofibromatosis 1
neurofibromatosis 2
Authors
Anna Kofla-Dlubacz
Andrzej Stawarski
Tomasz Pytrus
Justyna Gil
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