Vol 71, No 6 (2021)
Review paper
Published online: 2021-12-06

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Phacomatoses, genetic testing for personalisation of clinical management (part 1.)

Anna Kofla-Dlubacz1, Andrzej Stawarski1, Tomasz Pytrus1, Justyna Gil2
Nowotwory. Journal of Oncology 2021;71(6):420-426.


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.

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