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Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

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@article{3346e394df904f76a1ce8e03603b412a,
title = "Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome",
abstract = "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.",
keywords = "Hereditary, Mosaicism, Mucocutaneous pigmentations, Next-Generation Sequencing, Peutz–Jeghers, STK11, Peutz-Jeghers",
author = "Jelsig, {Anne Marie} and Birgitte Bertelsen and Isabel Forss and Karstensen, {John G{\'a}sdal}",
year = "2021",
month = jan,
doi = "10.1007/s10689-020-00191-4",
language = "English",
volume = "20",
pages = "55--59",
journal = "Familial Cancer",
issn = "1389-9600",
publisher = "Springer Netherlands",
number = "1",

}

RIS

TY - JOUR

T1 - Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

AU - Jelsig, Anne Marie

AU - Bertelsen, Birgitte

AU - Forss, Isabel

AU - Karstensen, John Gásdal

PY - 2021/1

Y1 - 2021/1

N2 - 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.

AB - 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.

KW - Hereditary

KW - Mosaicism

KW - Mucocutaneous pigmentations

KW - Next-Generation Sequencing

KW - Peutz–Jeghers

KW - STK11

KW - Peutz-Jeghers

UR - http://www.scopus.com/inward/record.url?scp=85086084859&partnerID=8YFLogxK

U2 - 10.1007/s10689-020-00191-4

DO - 10.1007/s10689-020-00191-4

M3 - Journal article

C2 - 32504210

VL - 20

SP - 55

EP - 59

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 1

ER -

ID: 60005157