The Experts below are selected from a list of 327 Experts worldwide ranked by ideXlab platform
Shoubin Ning - One of the best experts on this subject based on the ideXlab platform.
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early screening the small bowel is key to protect peutz jeghers syndrome patients from surgery a novel mutation c 243delg in stk11 gene
BMC Gastroenterology, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.
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Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene
BMC, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Abstract Background Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. Case presentation A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. Conclusions We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up
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cancer risk in patients with peutz jeghers syndrome a retrospective cohort study of 336 cases
Tumor Biology, 2017Co-Authors: Hongyu Chen, Xiaowei Jin, Ming Zhu, Gaoping Mao, Yafei Zhang, Shoubin NingAbstract:Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous Gastrointestinal Polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed. In total, 52 patients were diagnosed of cancer in the follow-up period, at a median age of 41 years (range: 21-67). The relative risk for cancer in Peutz-Jeghers syndrome patients was 63.858 (confidence interval: 47.514-85.823), and the cumulative cancer risk at the age of 60 years was 55%. Colorectal cancer was the most common cancer for Peutz-Jeghers syndrome patients (relative risk: 237.918, confidence interval: 154.417-366.572) and the cumulative cancer risk at the age of 60 years was 28%. There was a statistically significant difference in the cumulative cancer risk between patients with family history and those without family history, as well as between patients living in rural area and those living in urban areas ( p 0.05). Hopefully, our study may contribute to the management of this rare disorder and establishment of related surveillance projects, especially in China.
Mary P. Bronner - One of the best experts on this subject based on the ideXlab platform.
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first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
The American Journal of Surgical Pathology, 2008Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. BronnerAbstract:We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse Gastrointestinal hamartomatous Polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal glycogenic acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various Gastrointestinal Polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.
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Gastrointestinal Polyposis syndromes
American Journal of Medical Genetics Part A, 2003Co-Authors: Mary P. BronnerAbstract:Numerous Polyposis syndromes involve the Gastrointestinal (GI) tract, including both non-hereditary and hereditary types. Causative genes are now known for the seven major syndromes. Genetic and clinicopathologic features are reviewed here and cancer predisposition is emphasized. Genetic testing is available for the GI Polyposis syndromes, and can be accessed through GeneTests-GeneClinics on the Internet at http://www.genetests.org/. The website is available at no cost and is a publicly funded medical genetics resource for health care providers and researchers.
Xiaowei Jin - One of the best experts on this subject based on the ideXlab platform.
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early screening the small bowel is key to protect peutz jeghers syndrome patients from surgery a novel mutation c 243delg in stk11 gene
BMC Gastroenterology, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.
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Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene
BMC, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Abstract Background Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. Case presentation A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. Conclusions We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up
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cancer risk in patients with peutz jeghers syndrome a retrospective cohort study of 336 cases
Tumor Biology, 2017Co-Authors: Hongyu Chen, Xiaowei Jin, Ming Zhu, Gaoping Mao, Yafei Zhang, Shoubin NingAbstract:Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous Gastrointestinal Polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed. In total, 52 patients were diagnosed of cancer in the follow-up period, at a median age of 41 years (range: 21-67). The relative risk for cancer in Peutz-Jeghers syndrome patients was 63.858 (confidence interval: 47.514-85.823), and the cumulative cancer risk at the age of 60 years was 55%. Colorectal cancer was the most common cancer for Peutz-Jeghers syndrome patients (relative risk: 237.918, confidence interval: 154.417-366.572) and the cumulative cancer risk at the age of 60 years was 28%. There was a statistically significant difference in the cumulative cancer risk between patients with family history and those without family history, as well as between patients living in rural area and those living in urban areas ( p 0.05). Hopefully, our study may contribute to the management of this rare disorder and establishment of related surveillance projects, especially in China.
Yuliang Jiang - One of the best experts on this subject based on the ideXlab platform.
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early screening the small bowel is key to protect peutz jeghers syndrome patients from surgery a novel mutation c 243delg in stk11 gene
BMC Gastroenterology, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.
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Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene
BMC, 2019Co-Authors: Yuliang Jiang, Xiaowei Jin, Ziye Zhao, Shoubin NingAbstract:Abstract Background Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by Gastrointestinal Polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. Case presentation A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases. Conclusions We suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up
Nicoletta Resta - One of the best experts on this subject based on the ideXlab platform.
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cancer risk associated with stk11 lkb1 germline mutations in peutz jeghers syndrome patients results of an italian multicenter study
Digestive and Liver Disease, 2013Co-Authors: Nicoletta Resta, Alessandro Stella, Daniela Pierannunzio, Gennaro M Lenato, Riccardo Capocaccia, Rosanna Bagnulo, Patrizia Lastella, Francesco Susca, Cristina Bozzao, Daria Carmela LoconteAbstract:a b s t r a c t Background: Germline mutations in the STK11/LKB1 gene cause Peutz-Jeghers syndrome, an autosomal- dominantly inherited condition characterized by mucocutaneous pigmentation, hamartomatous Gastrointestinal Polyposis, and an increased risk for various malignancies. We here report the results of the first Italian collaborative study on Peutz-Jeghers syndrome. Aims: To assess cancer risks in a large homogenous cohort of patients with Peutz-Jeghers syndrome, carrying, in large majority, an identified STK11/LKB1 mutation. Methods: One-hundred and nineteen patients with Peutz-Jeghers syndrome, ascertained in sixteen dif- ferent Italian centres, were enrolled in a retrospective cohort study. Relative and cumulative cancer risks and genotype-phenotype correlations were evaluated.
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An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites
Nature Structural & Molecular Biology, 2005Co-Authors: Michelle L Hastings, Nicoletta Resta, Daniel Traum, Alessandro Stella, Ginevra Guanti, Adrian R. KrainerAbstract:Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder associated with Gastrointestinal Polyposis and an increased cancer risk. PJS is caused by germline mutations in the tumor suppressor gene LKB1 . One such mutation, IVS2+1A>G, alters the second intron 5′ splice site, which has sequence features of a U12-type AT-AC intron. We report that in patients, LKB1 RNA splicing occurs from the mutated 5′ splice site to several cryptic, noncanonical 3′ splice sites immediately adjacent to the normal 3′ splice site. In vitro splicing analysis demonstrates that this aberrant splicing is mediated by the U12-dependent spliceosome. The results indicate that the minor spliceosome can use a variety of 3′ splice site sequences to pair to a given 5′ splice site, albeit with tight constraints for maintaining the 3′ splice site position. The unusual splicing defect associated with this PJS-causing mutation uncovers differences in splice-site recognition between the major and minor pre-mRNA splicing pathways.
