Cargando…

Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP and intussusceptio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhao, Zi-Ye, Jiang, Yu-Liang, Li, Bai-Rong, Li, Jing, Jin, Xiao-Wei, Yu, En-Da, Ning, Shou-Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914036/ https://www.ncbi.nlm.nih.gov/pubmed/29685139 http://dx.doi.org/10.1186/s12893-018-0357-8

Ejemplares similares

Peutz-Jeghers syndrome with germline mutation of STK11
por: Chae, Hyun-Dong, et al.
Publicado: (2014)

Mutations in STK11 gene in Czech Peutz-Jeghers patients
por: Vasovčák, Peter, et al.
Publicado: (2009)

Obstructing Hamartomatous Polyp in Peutz-Jeghers Syndrome
por: Bentley, Brian S., et al.
Publicado: (2013)

Solitary Peutz-Jeghers-type Polyp of the Stomach
por: Goto, Atsushi, et al.
Publicado: (2020)

Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
por: Jang, Myeong Sun, et al.
Publicado: (2017)

Germline mutations of the STK11 gene in Korean Peutz–Jeghers syndrome patients
por: Yoon, K-A, et al.
Publicado: (2000)

Solitary Peutz-Jeghers Polyp in a Paediatric Patient
por: Retrosi, Giuseppe, et al.
Publicado: (2010)

Peutz-Jeghers Type Polyp of the Appendix with Review of Literature
por: Jedrzkiewicz, Jolanta, et al.
Publicado: (2019)

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome
por: Jiang, Yu-Liang, et al.
Publicado: (2018)

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients
por: Papp, Janos, et al.
Publicado: (2010)

Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome
por: Huang, Zhiheng, et al.
Publicado: (2015)

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome
por: Tan, Hu, et al.
Publicado: (2016)

Solitary gastric Peutz-Jeghers polyp: a case report
por: Khsiba, Amal, et al.
Publicado: (2022)

Peutz-Jeghers Syndrome Manifested as Multiple Polyps in Jejunum With Intussusception
por: Jiang, Hai Hua, et al.
Publicado: (2022)

Cancer risk and mortality in patients with solitary Peutz–Jeghers polyps
por: Jelsig, Anne Marie, et al.
Publicado: (2023)

A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome
por: Yu, Zhen, et al.
Publicado: (2022)

Peutz–Jeghers Syndrome
por: Parray, Fazl Qadir, et al.
Publicado: (2012)

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome
por: Lim, W, et al.
Publicado: (2003)

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients
por: Thakur, Nikita, et al.
Publicado: (2006)

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients
por: Wang, Zhiqing, et al.
Publicado: (2011)

Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome
por: Zhang, Zhi, et al.
Publicado: (2020)

A novel germline mutation (c.A527G) in STK11 gene causes Peutz–Jeghers syndrome in a Chinese girl: A case report
por: Zhao, Zi-Ye, et al.
Publicado: (2017)

Genetic and epigenetic profiling of a solitary Peutz–Jeghers colon polyp
por: Linhart, Heinz, et al.
Publicado: (2017)

Giant Gastric Polyp in Peutz–Jeghers Syndrome: Report of a Case
por: Murali, Divya, et al.
Publicado: (2020)

Long-Term Outcome in Patients with a Solitary Peutz-Jeghers Polyp
por: Iwamuro, Masaya, et al.
Publicado: (2019)

Solitary Peutz-Jeghers Type Hamartomatous Polyp Arising from the Appendix
por: Sant'Anna, Mariana, et al.
Publicado: (2022)

A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
por: Zhao, Na, et al.
Publicado: (2021)

STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome
por: Chiraphapphaiboon, Wannasiri, et al.
Publicado: (2023)

Peutz-Jeghers syndrome: revisited
por: dos Santos, Vitorino Modesto, et al.
Publicado: (2022)

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients
por: Jiang, Li-Xin, et al.
Publicado: (2023)

Solitary Peutz–Jeghers Polyp of Jejunum: A Rare Cause of Childhood Intussusception
por: Kalavant, Akshay B., et al.
Publicado: (2017)

A case of intestinal MALToma with co-existent tuberculosis and Peutz-Jeghers polyp
por: Srinivasan, AP, et al.
Publicado: (2015)

Small intestinal hamartomatous polyp due to Peutz–Jeghers syndrome in middle childhood
por: Kakiuchi, Toshihiko, et al.
Publicado: (2022)

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
por: Hearle, Nicholas CM, et al.
Publicado: (2005)

A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report
por: Chen, Jing-Hui, et al.
Publicado: (2017)

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene
por: Jiang, Yu-Liang, et al.
Publicado: (2019)

Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz–Jeghers syndrome
por: Algarni, Maidah, et al.
Publicado: (2019)

A Case of Multiple Polyps Causing Intussusception in an Adult Patient With Peutz-Jeghers Syndrome
por: Alharbi, Ebtehal S, et al.
Publicado: (2022)

Endoscopic treatment of intussusception due to small intestine polyps in patients with Peutz-Jeghers Syndrome
por: Oguro, Kunihiko, et al.
Publicado: (2022)

Cancer problem in Peutz–Jeghers syndrome
por: Taheri, Diana, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ns8bv8vgoefnbj2qmgvnhm10l2