Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.
Hereditary
Mosaicism
Mucocutaneous pigmentations
Next-Generation Sequencing
Peutz–Jeghers
STK11
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
24
04
2020
accepted:
28
05
2020
pubmed:
7
6
2020
medline:
30
11
2021
entrez:
7
6
2020
Statut:
ppublish
Résumé
Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. We report two Danish patients with STK11 mosaicism detected in blood when using Next-Generation Sequencing. This is only the sixth and seventh patient reported in the literature, and we compare phenotypes of the reported cases. The results indicate that STK11 mosaicism is more frequent than anticipated and highlight that mosaicism should be considered in patients with clinical suspicion of PJS or patients fulfilling the diagnostic criteria.
Identifiants
pubmed: 32504210
doi: 10.1007/s10689-020-00191-4
pii: 10.1007/s10689-020-00191-4
doi:
Substances chimiques
Protein Serine-Threonine Kinases
EC 2.7.11.1
STK11 protein, human
EC 2.7.11.1
AMP-Activated Protein Kinase Kinases
EC 2.7.11.3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
55-59Références
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