Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

Anne Marie Jelsig; Thomas van Overeem Hansen; Lene Bjerring Gede; Niels Qvist; Lise-Lotte Christensen; Charlotte Kvist Lautrup; Jane Hübertz Frederiksen; Lone Sunde; Lilian Bomme Ousager; Ken Ljungmann; Birgitte Bertelsen; John Gásdal Karstensen

doi:10.1111/cge.14337

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

Anne Marie Jelsig^*, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Jane Hübertz Frederiksen, Lone Sunde, Lilian Bomme Ousager, Ken Ljungmann, Birgitte Bertelsen, John Gásdal Karstensen

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

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Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	104
Nummer	1
Sider (fra-til)	81-89
Antal sider	9
ISSN	0009-9163
DOI	https://doi.org/10.1111/cge.14337
Status	Udgivet - jul. 2023

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10.1111/cge.14337Licens: CC BY-NC-ND

Clinical Genetics - 2023 - Jelsig - Survival surveillance and genetics in patients with Peutz Jeghers syndrome AForlagets udgivne version, 1,95 MBLicens: CC BY-NC-ND

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abstract = "Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.",

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author = "Jelsig, {Anne Marie} and {van Overeem Hansen}, Thomas and Gede, {Lene Bjerring} and Niels Qvist and Lise-Lotte Christensen and Lautrup, {Charlotte Kvist} and Frederiksen, {Jane H{\"u}bertz} and Lone Sunde and Ousager, {Lilian Bomme} and Ken Ljungmann and Birgitte Bertelsen and Karstensen, {John G{\'a}sdal}",

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year = "2023",

month = jul,

doi = "10.1111/cge.14337",

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T1 - Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome

T2 - A nationwide study

AU - Jelsig, Anne Marie

AU - van Overeem Hansen, Thomas

AU - Gede, Lene Bjerring

AU - Qvist, Niels

AU - Christensen, Lise-Lotte

AU - Lautrup, Charlotte Kvist

AU - Frederiksen, Jane Hübertz

AU - Sunde, Lone

AU - Ousager, Lilian Bomme

AU - Ljungmann, Ken

AU - Bertelsen, Birgitte

AU - Karstensen, John Gásdal

PY - 2023/7

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N2 - Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.

AB - Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.

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KW - STK11

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KW - genetics

KW - hereditary

KW - polyp

KW - polyposis

KW - Humans

KW - Middle Aged

KW - Child, Preschool

KW - Genotype

KW - Young Adult

KW - Peutz-Jeghers Syndrome/complications

KW - Adolescent

KW - Aged, 80 and over

KW - Adult

KW - Colorectal Neoplasms

KW - Mosaicism

KW - Aged

KW - Child

KW - Protein Serine-Threonine Kinases/genetics

U2 - 10.1111/cge.14337

DO - 10.1111/cge.14337

M3 - Journal article

C2 - 37017260

SN - 0009-9163

VL - 104

SP - 81

EP - 89

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

Abstract

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