期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 65, 期 7, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2022.104533
关键词
Hamartoma syndrome; Multiple; Cowden syndrome; PTEN; Mosaicism
资金
- European Reference Network on Genetic Tumour Risk Syndromes [739547]
- PTEN Research Foundation
This article describes two cases of PTEN mosaicism, suggesting that it may be more common than currently reported. Awareness of PTEN mosaicism is crucial for timely diagnosis and inclusion in cancer surveillance programs, ultimately improving prognosis and life expectancy for affected individuals.
PTEN germline variants cause PTEN Hamartoma Tumour Syndrome (PHTS). Of individuals fulfilling diagnostic criteria, 41-88% test negative for PTEN germline variants, while mosaicism could be an explanation. Here we describe two individuals with PTEN mosaicism. First, a 21-year-old female presented with macrocephaly and a venous malformation. Next generation sequencing analysis on her venous malformation identified the mosaic pathogenic PTEN variant c.493-2A>G (23%). This variant was initially missed in blood due to low frequency (<1%), but detected in buccal swab (21%). Second, a 13-year-old male presented with macrocephaly, language developmental delay, behavioral problems, and an acral hyperkeratotic papule. Targeted PTEN analysis identified the mosaic pathogenic variant c.284C>T (11%) in blood, which was confirmed via buccal swab. These two cases suggest that PTEN mosaicism might be more common than currently reported. PTEN mosaicism awareness is important to enable diagnosis, which facilitates timely inclusion in cancer surveillance programs improving prognosis and life expectancy.
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