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Peutz Jeghers syndrome

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https://www.readbyqxmd.com/read/29720104/prenatal-diagnosis-in-a-hereditary-peutz-jeghers-syndrome-family-with-high-cancer-risk
#1
Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis is important for patients' psychological status, as well as for clinical management, genetic counseling and possible prenatal family planning...
May 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29707083/peutz-jeghers-syndrome-presenting-as-colonic-intussusception-a-rare-entity
#2
Jamil Shah, Tagore Sunkara, Philip Xiao, Vinaya Gaduputi, Madhavi Reddy, Sultana Razia
Peutz-Jeghers syndrome is an autosomal dominant inherited medical condition characterized by hyperpigmented mucocutaneous macules, hamartomatous polyps in the digestive tract, and with a greater risk of gastrointestinal and non-gastrointestinal cancers. In fact, without appropriate medical surveillance, the lifetime risk for all cancers combined may be as high as 93%. The syndrome is rare, with estimates of incidence varying between 1 in 8,300 and 1 in 280,000 live births. Infrequently, individuals present for the first time with bowel obstruction secondary to intussusception...
April 2018: Gastroenterology Research
https://www.readbyqxmd.com/read/29692461/peutz-jeghers-syndrome-a-circumventable-emergency
#3
Sourav Choudhury, Anupam Das, Priyankar Misra, Udipta Ray, Sujata Sarangi
Peutz-Jeghers syndrome (PJS) is characterized by multiple hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation. Here we present, a case of multiple gastrointestinal hamartomatous polyps in a 22-year-old male who had been operated for intestinal obstruction due to ileocolic intussusception. Resection of the affected segment was done with proximal ileostomy and distal mucous fistula formation. Clinicopathological diagnosis of PJS was made. Later, during ileostomy closure, it was found that the patient had a transverse colonic mass which was resected...
March 2018: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/29685139/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
#4
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Jing Li, Xiao-Wei Jin, En-Da Yu, Shou-Bin Ning
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 intussusception in childhood are more frequent and severe than in adults. CASE PRESENTATION: We report here a girl without a positive family history, who grew oral and fingertip MP at her age of 2 and got abdomen dull pain from 7 years old...
April 23, 2018: BMC Surgery
https://www.readbyqxmd.com/read/29540834/controlling-the-master-upstream-regulation-of-the-tumor-suppressor-lkb1
#5
REVIEW
Lars Kullmann, Michael P Krahn
The tumor suppressor LKB1 is an essential serine/threonine kinase, which regulates various cellular processes such as cell metabolism, cell proliferation, cell polarity, and cell migration. Germline mutations in the STK11 gene (encoding LKB1) are the cause of the Peutz-Jeghers syndrome, which is characterized by benign polyps in the intestine and a higher risk for the patients to develop intestinal and extraintestinal tumors. Moreover, mutations and misregulation of LKB1 have been reported to occur in most types of tumors and are among the most common aberrations in lung cancer...
March 15, 2018: Oncogene
https://www.readbyqxmd.com/read/29497135/intraoperative-enteroscopy-in-peutz-jeghers-syndrome
#6
Bhavana Bhagya Rao, Matthew F Kalady, Carol A Burke
No abstract text is available yet for this article.
March 1, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29496571/unusual-findings-in-peutz-jeghers-syndrome-endoscopic-and-histologic-appearance-of-gastric-hamartomatous-polyposis-with-foveolar-dysplasia
#7
Giuseppe Vanella, Giancarlo D'Ambra, Emanuela Pilozzi, Gabriele Capurso, Emilio Di Giulio
No abstract text is available yet for this article.
February 27, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29484932/massive-intussusception-caused-by-a-solitary-peutz-jeghers-type-hamartomatous-polyp
#8
V Kalliakmanis, I Perysinakis, K Koutsouvas, P Karras, E Margaris, C Angelakis
Intussusception is a rare cause of intestinal obstruction in adults and represents a diagnostic challenge for the surgeon. In the majority of cases, presenting symptoms are not specific, making preoperative diagnosis difficult. Several medical conditions may cause intestinal intussusception. We present the case of a 16-year-old female patient with intussusception due to a hamartomatous Peutz-Jeghers type polyp. This is an extremely rare case in which the first manifestation of the intestinal polyp was jejunojejunal intussusception very close to the duodenojejunal junction, with a necrotic intussusceptum about 50 cm long...
April 2018: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29449094/safety-and-efficacy-of-small-bowel-polypectomy-using-a-balloon-assisted-enteroscope-in-pediatric-patients-with-peutz-jeghers-syndrome
#9
G Blanco-Velasco, O V Hernández-Mondragón, J M Blancas-Valencia, V Paz-Flores, D Fuentes-Hernández, P Rodríguez-González, B González-Ortíz
INTRODUCTION AND AIMS: Peutz-Jeghers syndrome is an autosomal dominant inherited pathology characterized by gastrointestinal hamartomatous polyps, predominantly in the small bowel, and pigmented mucocutaneous lesions. Guidelines suggest polypectomy with a balloon-assisted enteroscope when polyps are larger than 10mm. Complications in adults can be as high as 6.8%, but there is little information on pediatric populations. Our aim was to describe the safety and efficacy of polypectomy in a group of pediatric patients with Peutz-Jeghers syndrome using balloon-assisted enteroscopy...
February 12, 2018: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29447078/effects-of-peutz-jeghers-syndrome-pjs-causing-missense-mutations-l67p-l182p-g242v-and-r297s-on-the-structural-dynamics-of-lkb1-liver-kinase-b1-protein
#10
Ikrormi Rungsung, Amutha Ramaswamy
The liver kinase B1 (LKB1) is encoded by LKB1 gene. Several pathogenic mutations of LKB1 causing Peutz-Jeghers syndrome and also cancers in breast, gastric, pancreas, and colon have been reported. The present study is focused to analyze the effects on the structural dynamics of LKB1 caused by the 4 pathogenic missense mutations (L67P, L182P, G242V, and R297S), which are reported to reduce the catalytic activity. In this study, the structural changes of LKB1 in apo- and in heterotrimeric complex (LKB1-STRADα-MO25α) form with wild and mutated LKB1 are investigated using all atomistic molecular dynamic simulation...
February 23, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29419869/-identification-of-a-novel-stk11-gene-mutation-in-a-family-affected-with-hereditary-peutz-jeghers-syndrome
#11
Cuiyang Xu, Yue Ma, Fei Cao, He Zhao, Yongjie Wang, Zewen Xiao, Jiebing Tang, Feihu Yan, Peng Sun, Na Zhang, Ji Tao
OBJECTIVE To explore the genetic basis for a family affected with Peutz-Jeghers syndrome (PJS). METHODS Genomic DNA was extracted from peripheral blood and oral swab samples from the patient and her relatives. Next-generation sequencing (NGS) was used to analyze 106 target genes by capturing the exons and adjacent intronic regions. Suspected pathogenic mutation was verified by NGS. RESULTS A missense STK11 mutation was detected in the proband, which was not reported previously. The mutation has caused substitution of Leucine by Proline...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29399144/two-novel-stk11-missense-mutations-induce-phosphorylation-of-s6k-and-promote-cell-proliferation-in-peutz-jeghers-syndrome
#12
Ran Li, Zhiqing Wang, Shu Liu, Baoping Wu, Di Zeng, Yali Zhang, Lanbo Gong, Feihong Deng, Haoxuan Zheng, Yadong Wang, Chudi Chen, Junsheng Chen, Bo Jiang
Peutz-Jeghers syndrome (PJS) is a rare hereditary disease caused by mutations in serine threonine kinase 11 ( STK11 ) and characterized by an increased risk of developing cancer. Inactivation of STK11 has been associated with the mammalian target of rapamycin (mTOR) pathway. Hyperactivation and phosphorylation of the key downstream target genes ribosomal protein S6 kinase 1 (S6K1) and S6 promote protein synthesis and cell proliferation. To better understand the effects of STK11 dysfunction in the pathogenesis of PJS, genomic DNA samples from 21 patients with PJS from 11 unrelated families were investigated for STK11 mutations in the present study...
January 2018: Oncology Letters
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#13
REVIEW
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
May 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29373116/uncommon-hereditary-gynaecological-tumour-syndromes-pathological-features-in-tumours-that-may-predict-risk-for-a-germline-mutation
#14
REVIEW
Karuna Garg, Anthony N Karnezis, Joseph T Rabban
The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling...
February 2018: Pathology
https://www.readbyqxmd.com/read/29371475/chemoprevention-in-patients-with-peutz-jeghers-syndrome-lessons-learned
#15
Justin de Brabander, Ferry A L M Eskens, Susanne E Korsse, Evelien Dekker, Pieter Dewint, Monique E van Leerdam, Susanne van Eeden, Heinz-Josef Klümpen
LESSONS LEARNED: Motivating patients to enroll in chemopreventive studies is challenging.Chemoprevention with toxic drugs is not feasible. BACKGROUND: LKB1 mutations are the underlying genetic abnormality causing Peutz-Jeghers syndrome (PJS) and are a potential target for everolimus. In this phase II study, the efficacy of everolimus on polyp and tumor growth in PJS patients was investigated. METHODS: Adult patients with a proven LKB1 mutation and who were suitable for everolimus treatment were included in two different PJS cohorts: (a) patients with unresectable malignancies and (b) patients with high-risk polyps...
April 2018: Oncologist
https://www.readbyqxmd.com/read/29365221/colorectal-cancer-screening-and-surveillance-in-individuals-at-increased-risk
#16
Thad Wilkins, Danielle McMechan, Asif Talukder, Alan Herline
Individuals at increased risk of developing colorectal cancer include those with a personal or family history of advanced adenomas or colorectal cancer, a personal history of inflammatory bowel disease, or genetic polyposis syndromes. In general, these persons should undergo more frequent or earlier testing than individuals at average risk. Individuals who have a first-degree relative with colorectal cancer or advanced adenoma diagnosed before 60 years of age or two first-degree relatives diagnosed at any age should be advised to start screening colonoscopy at 40 years of age or 10 years younger than the earliest diagnosis in their family, whichever comes first...
January 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29310834/genetic-analysis-and-clinical-description-of-greek-patients-with-peutz-jeghers-syndrome-creation-of-a-national-registry
#17
Florentia Fostira, Vasiliki Mollaki, George Lypas, George Alexandrakis, Efstratios Christianakis, Maria Tzouvala, Eirini Zacharopoulou, Despoina Kalfakakou, Irene Konstantopoulou, Drakoulis Yannoukakos
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece. STK11 loss-of-function (LoF) mutations were detected in 87.5% of index patients...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29309780/pancreatic-cancer-screening-in-high-risk-individuals-with-germline-genetic-mutations
#18
Tomas DaVee, Emmanuel Coronel, Charilaos Papafragkakis, Sayam Thaiudom, Gandhi Lanke, Raja C Chakinala, Graciela M Nogueras González, Manoop S Bhutani, William A Ross, Brian R Weston, Jeffrey H Lee
BACKGROUND AND AIMS: Pancreatic cancer (PC) is a deadly disease that is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS: Asymptomatic adults underwent PC screening by EUS, magnetic resonance imaging, or CT during a 10-year period and were retrospectively identified...
January 5, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29245219/a-novel-germline-mutation-c-a527g-in-stk11-gene-causes-peutz-jeghers-syndrome-in-a-chinese-girl-a-case-report
#19
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shu-Han Sun, Shou-Bin Ning
RATIONALE: Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigmentation and intussusception due to GI polyps in childhood. PATIENT CONCERNS: A girl with a positive family history grew oral pigmentation at 1 and got intussusception by small bowel hamartomas at 5...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29245215/a-giant-and-extensive-solitary-peutz-jeghers-type-polyp-in-the-antrum-of-stomach-case-report
#20
Bai-Cang Zou, Feng-Fan Wang, Gang Zhao, Xiao-Lan Lu, Li Zhang, Ping Zhao, Hai-Tao Shi, Bin Qin, Xiao-Dan Guo, Jing Zhang
RATIONALE: A solitary Peutz-Jeghers-type polyp is a hamartomatous polyp which without either mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome (PJS). It can occur in all of the gastrointestinal tract, but it is extremely rare in the stomach. PATIENT CONCERNS: A 53-year-old man was admitted to the local hospital with left upper abdominal pain lasting 2 weeks. A gastroscopy showed a giant and extensive bulging lesion on the greater curvature and posterior and anterior walls of the gastric antrum, involving three-quarters of the gastric wall...
December 2017: Medicine (Baltimore)
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