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- Title
How calm should I keep? Café-au-lait macules as potential manifestations of cancer susceptibility syndromes.
- Authors
Cismaru, Andrei; Berindan-Neagoe, Ioana
- Abstract
Objectives. Café-au-lait macules (CALMs) are common findings in 10-36% of healthy individuals. However, CALMs may represent a skin manifestation in more than 60 genetic syndromes, some of which may associate a predisposition to the development of cancer. The aim of the present study was to identify syndromes with a genetic predisposition to cancer, which are associated with CALMs. Materials and method. We interrogated the OMIM (Online Mendelian Inheritance in Man) database to identify cancer susceptibility syndromes that associate CALMs within their phenotype. The terms “café-au-lait” and “malignant” were used, and for each recognized syndrome we identified the gene involved, the chromosomal locus, the type of transmission, the associated skin manifestations and the main malignant tumors associated with the syndrome. Results. Fifteen genetic cancer susceptibility syndromes have been identified that associate CALMs as skin manifestations. These are neurofibromatosis type 1 and 2, Nijmegen syndrome, mismatch repair cancer syndrome 1, 3 and 4, Bloom syndrome, Rubinstein-Taybi syndrome type 1, ataxia-telangiectasia, multiple endocrine neoplasia type 1 (MEN-1), McCune-Albright syndrome, Fanconi anemia complementation group A, Noonan syndrome type 1, Van Asperen syndrome, and pheochromocytoma. Conclusions. By developing a custom panel of next-generation sequencing for the genes involved in the pathogenesis of cancer predisposition syndromes, genetic testing in children presenting with CALMs could represent a valuable tool for pediatric oncohematologists and will help avoid life-threatening complications.
- Subjects
NIJMEGEN (Netherlands); MACULES; CANCER susceptibility; NEUROFIBROMATOSIS 2; HEREDITY; FANCONI'S anemia; NOONAN syndrome; NEUROFIBROMATOSIS 1; HEREDITARY nonpolyposis colorectal cancer
- Publication
Oncolog-Hematolog, 2023, Issue 64, p33
- ISSN
2066-8716
- Publication type
Article