2,429 results match your criteria Peutz-Jeghers Syndrome


STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients.

Cancer Genet 2018 Nov 30. Epub 2018 Nov 30.

Department of Gastroenterology, Airforce Specialty Medical Center of PLA, 30 Fucheng Rd., Beijing 100142, China. Electronic address:

Background: The combination of direct sequencing and multiple ligation-dependent probe amplification (MLPA) has resulted in an 80% detection rate of serine/threonine kinase 11 (STK11) gene mutations in Peutz-Jeghers syndrome (PJS); however, this rate varies in different ethnicities.

Aims: To test the efficacy of the combination in Chinese patients with PJS.

Methods: PJS probands visiting our center during one year were enrolled. Read More

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November 2018

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1381-1386

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Read More

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December 2018
9 Reads

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
9 Reads

Underwater endoscopic mucosal resection of a large jejunal polyp by single-balloon enteroscopy in a patient with Peutz-Jeghers syndrome.

Dig Liver Dis 2018 Aug 20. Epub 2018 Aug 20.

University Division of Gastroenterology, Department of Medical Sciences, University of Turin, City of Health and Science, Turin, Italy.

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August 2018
3 Reads

Clinical and Genetic Study of children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation.

J Pediatr Gastroenterol Nutr 2018 Oct 16. Epub 2018 Oct 16.

Department of Gastroenterology.

Objectives: The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics.

Method: In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected. Read More

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October 2018
4 Reads

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits.

Case Rep Surg 2018 19;2018:6895974. Epub 2018 Sep 19.

Pediatric Surgery Department, Penteli Children's Hospital, Ippokratous 8, Penteli 15236, Greece.

We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in the jejunum. This patient shows some unique aspects of PJS. No other such large gastric polyp in a Peutz-Jeghers child is reported in the literature. Read More

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September 2018
1 Read

Scalp metastases as first presentation of pulmonary adenocarcinomas: a case report.

Onco Targets Ther 2018 21;11:6147-6151. Epub 2018 Sep 21.

Department of Dermatology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China,

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 12% of all malignancies. Here we report a 64-year-old asymptomatic female patient with Peutz-Jeghers syndrome presenting with multiple scalp metastases as the initial manifestation secondary to lung adenocarcinoma. Read More

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September 2018
8 Reads

Mystery behind labial and oral melanotic macules: Clinical, dermoscopic and pathological aspects of Laugier-Hunziker syndrome.

World J Clin Cases 2018 Sep;6(10):322-334

Department of Oral Medicine, Nanjing Stomatological Hospital, Medical School of Nanjing University, Nanjing 210008, Jiangsu Province, China.

Labial and oral melanotic macules are commonly encountered in a broad range of conditions ranging from physiologic pigmentation to a sign of an underlying life-threatening disease. Although Laugier-Hunziker syndrome (LHS) shares some features of labial and oral pigmentation with a variety of conditions, it is a benign and acquired condition, frequently associated with longitudinal melanonychia. Herein, the demographic, clinical, dermoscopic, and pathological aspects of LHS were reviewed comprehensively. Read More

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September 2018
2 Reads

Familial Pancreatic Cancer.

Oncol Res Treat 2018 28;41(10):611-618. Epub 2018 Sep 28.

Familial pancreatic cancer accounts for 10% of all patients with pancreatic cancer. Because the 5-year survival rate of pancreatic cancer is only 7%, screening programs for high-risk individuals are essential and might be advantageous. Pancreatic ductal adenocarcinoma mostly shows symptoms at an advanced state and treatment is not efficient enough to cure most patients. Read More

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September 2018
4 Reads

Double-balloon enteroscopy for pediatric patients: Application and feasibility evaluation in a medical center in northern Taiwan.

J Formos Med Assoc 2018 Sep 26. Epub 2018 Sep 26.

Department of Gastroenterology and Hepatology, Linkou Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Taiwan Association for the Study of Small Intestinal Diseases (TASSID), Taoyuan, Taiwan. Electronic address:

Background/purpose: The diagnostic and therapeutic benefits of double-balloon enteroscopy (DBE) in adults are established, but few data are available on pediatric patients. The aim of this study was to evaluate the clinical efficacy and safety of DBE in pediatric patients in Taiwan.

Methods: From April 2005 to September 2015, DBE procedures performed for diagnosis or therapy of small-bowel disease in children less than 18 years of age at Linkou Chang Gung Memorial Hospital, Taiwan were evaluated. Read More

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September 2018
2 Reads
1.700 Impact Factor

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases.

Obstet Gynecol Sci 2018 Sep 28;61(5):590-597. Epub 2018 Aug 28.

Comprehensive Gynecologic Cancer Center, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

Objective: The aim of this study was to evaluate the clinicopathological features of minimal deviation adenocarcinoma (MDA) and to analyze its prognostic factors.

Methods: We retrospectively analyzed the medical records of 17 patients who were diagnosed with MDA at a single institution between January 2005 and December 2015.

Results: The median age of the patients was 47. Read More

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September 2018
1 Read

LKB1 loss is associated with glutathione deficiency under oxidative stress and sensitivity of cancer cells to cytotoxic drugs and γ-irradiation.

Biochem Pharmacol 2018 Oct 15;156:479-490. Epub 2018 Sep 15.

Istituto Oncologico Veneto IOV - IRCCS, Padova, Italia. Electronic address:

The liver kinase B1 (LKB1) gene is a tumor suppressor associated with the hereditary Peutz-Jeghers syndrome and frequently mutated in non-small cell lung cancer and in cervical cancer. Previous studies showed that the LKB1/AMPK axis is involved in regulation of cell death and survival under metabolic stress. By using isogenic pairs of cancer cell lines, we report here that the genetic loss of LKB1 was associated with increased intracellular levels of total choline containing metabolites and, under oxidative stress, it impaired maintenance of glutathione (GSH) levels. Read More

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October 2018
1 Read

Differential diagnosis of solitary gastric Peutz-Jeghers-type polyp with stomach cancer: a case report.

Int J Surg Case Rep 2018 10;51:261-264. Epub 2018 Sep 10.

Department of Gastroenterological Surgery, Showa General Hospital, Japan.

Introduction: Solitary Peutz-Jeghers-type polyps of the stomach are extremely rare. They are defined as unique polyps that are not associated with Peutz-Jeghers syndrome (PJS).

Presentation Of Case: A 37-year-old woman presented at our hospital with anemia and epigastric discomfort. Read More

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September 2018
7 Reads

Rectal cancer developing from an anastomotic site 18 years after resection due to intussusception caused by Peutz-Jeghers polyposis in a 31-year-old man: a case report.

Surg Case Rep 2018 Sep 5;4(1):110. Epub 2018 Sep 5.

Department of Coloproctological Surgery, Japanese Red Cross Medical Center, 4-1-22, Hiro-o, Shibuya-ku, Tokyo, 150-8935, Japan.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract. It is associated with a high risk of malignancy in the gastrointestinal tract, as well as in other organs. We report a case of colon cancer at the anastomotic site that occurred 18 years after high anterior resection of the rectum for intussusception caused by Peutz-Jeghers polyposis. Read More

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September 2018
6 Reads

Extraovarian sex cord tumor with annular tubules discovered arising from a leiomyoma.

Gynecol Oncol Rep 2018 Nov 2;26:17-20. Epub 2018 Jul 2.

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, San Antonio Military Medical Center, United States.

Background: Sex cord tumors with annular tubules (SCTAT) are a rare (2%) subtype of ovarian sex cord-stromal tumor. SCTATs are usually cured at time of diagnosis by surgical resection with an oophorectomy. SCTATs have a 100%(disease related) five-year survival. Read More

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November 2018
6 Reads

Must Peutz-Jeghers syndrome patients have the gene mutation? A case report and review of the literature.

World J Clin Cases 2018 Aug;6(8):224-232

Department of General Surgery, Air Force General Hospital of Chinese PLA, Beijing 100142, China.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. Read More

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August 2018
1 Read

Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma.

Gastrointest Endosc 2018 Aug 24. Epub 2018 Aug 24.

Department of Gastroenterology and Hepatology, Stanford Hospital and Clinics, Stanford, California, USA.

Background And Aims: Pancreatic intraepithelial neoplasia is associated with chronic pancreatitis (CP) changes on EUS. The objective of this study was to determine whether CP changes were more common in high-risk individuals (HRIs) than in control subjects and whether these changes differed among higher-risk subsets of HRIs.

Methods: HRIs and control subjects were identified from an endoscopy database. Read More

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August 2018
2 Reads

T-Cell Mutation Leads to GI Polyps.

Authors:

Cancer Discov 2018 Oct 24;8(10):1202-1203. Epub 2018 Aug 24.

Peutz-Jeghers syndrome, a cancer predisposition syndrome that causes benign gastrointestinal polyps, results from a germline mutation in a single allele of STK11, the gene that encodes for LKB1. Researchers established a possible mechanism for how a STK11 mutation in T cells could lead to polyps associated with the syndrome. Read More

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October 2018

Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO).

Int J Gynecol Pathol 2018 Aug 21. Epub 2018 Aug 21.

Department of Pathology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada (J.M.) Department of Pathology (F.D., L.M.S., E.G., N.L.) Department of Pathology, Division of Women's and Perinatal Pathology (J.M., C.P.C., M.R.N., B.E.H.), Brigham and Women's Hospital Dana-Farber Cancer Institute (E.G., L.M.), Boston, Massachusetts Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK (W.G.M.) Department of Pathology, Stanford University School of Medicine, Stanford, California (B.E.H.).

Female adnexal tumor of probable Wolffian origin (FATWO) is a rare gynecologic neoplasm of low-malignant potential presumed to be derived from mesonephric remnants in the upper female genital tract. Similarly, mesonephric remnants in the lower female genital tract are thought to be the origin for mesonephric carcinoma. Although the molecular alterations in mesonephric carcinoma have been recently reported, the pathogenesis of and molecular alterations in FATWO are not well understood. Read More

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August 2018
13 Reads

Update on small bowel surveillance in hereditary colorectal cancer syndromes.

Tumori 2018 Aug 17:300891618792461. Epub 2018 Aug 17.

Division of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.

Despite its rarity in the general population, small bowel adenocarcinoma risk is increased in individuals with hereditary colorectal cancer syndromes (HCCS). In the last decade, the advent of capsule endoscopy and device-assisted balloon enteroscopy procedures in patients with HCCS have allowed to investigate the whole small bowel, increasing the diagnostic yield of small bowel tumor. Nonetheless, there is a significant variability in the international guideline recommendations. Read More

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August 2018
15 Reads

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome.

BMC Med Genet 2018 Aug 9;19(1):141. Epub 2018 Aug 9.

Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.

Methods: PJS probands with STK11 mutation were included in the function analysis. Read More

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August 2018
5 Reads

Laugier-Hunziker syndrome in endocrine clinical practice.

Endocrinol Diabetes Metab Case Rep 2018 26;2018. Epub 2018 Jul 26.

Departments of Endocrinology, Diabetes and Metabolic Diseases.

Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e. Read More

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July 2018
10 Reads

Metachronous triple cancer associated with Peutz-Jeghers syndrome treated with curative surgery: a case report.

Surg Case Rep 2018 Aug 1;4(1):84. Epub 2018 Aug 1.

Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. It is well known that individuals with PJS are at an increased risk of cancer in a variety of organs.

Case Presentation: Here, we present a patient with PJS who achieved long-term survival by undergoing repeat curative surgery for metachronous triple cancer. Read More

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August 2018
1 Read

Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression.

J Pediatr Endocrinol Metab 2018 Oct;31(10):1149-1154

Paediatric Endocrinology Unit, Hospital Dona Estefânia - Centro Hospitalar Lisboa Central, Lisboa, Portugal.

Background Gynaecomastia, although rarely related to testicular tumours, in boys with Peutz-Jeghers syndrome (PJS) usually occurs due to large-cell calcifying Sertoli cell tumour (LCCSCT). Case presentation A 4-year-old boy, with a genetic diagnosis of PJS, presented gynaecomastia since the age of 2, associated with increased height velocity (HV). He exhibited bilateral breast enlargement (Tanner-B4) and a testicular volume of 4 mL. Read More

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October 2018
3 Reads

LKB1 deficiency in T cells promotes the development of gastrointestinal polyposis.

Science 2018 07;361(6400):406-411

Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 1A3, Canada.

Germline mutations in , which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz-Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. Here, we report that heterozygous deletion of in T cells (LT mice) is sufficient to promote GI polyposis. Polyps from LT mice, mice, and human PJS patients display hallmarks of chronic inflammation, marked by inflammatory immune-cell infiltration, signal transducer and activator of transcription 3 (STAT3) activation, and increased expression of inflammatory factors associated with cancer progression [interleukin 6 (IL-6), IL-11, and CXCL2]. Read More

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July 2018
1 Read

Peutz-Jeghers syndrome: A very rare cause of iron deficiency anemia.

Turk J Haematol 2018 Jul 24. Epub 2018 Jul 24.

Şanlıurfa Eğitim ve Araştırma Hastanesi - Medical Genetics, Şanlıurfa, Turkey.

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July 2018
7 Reads

The patients with Peutz-Jeghers syndrome have a high risk of developing cancer.

Turk J Surg 2018 3;34(2):162-164. Epub 2018 Jan 3.

Department of General Surgery, İzmir Katip Çelebi University Training and Research Hospital, İzmir, Turkey.

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, and intestinal and extraintestinal multiple hamartomatous polyps. Development of gastrointestinal and extragastrointestinal cancer risk is markedly increased in patients with Peutz-Jeghers syndrome. We analyzed five patients from two families diagnosed with Peutz-Jeghers syndrome between 1999 and 2012. Read More

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January 2018
2 Reads

Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome.

Radiol Case Rep 2018 Aug 20;13(4):839-842. Epub 2018 Jun 20.

St. Christopher's Hospital for Children, 160 E. Erie Ave, Philadelphia, PA 19134, USA.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited condition characterized by hamartomatous gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition for malignancy. Most patients with PJS are diagnosed in the second or third decade of life, and commonly have intussusception as a complication. This report describes an unusual case of a 2-year-old male known to have PJS, who had previously developed a small bowel intussusception caused by a polyp requiring a very short segmental small bowel resection. Read More

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August 2018
2 Reads

Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.

Fam Cancer 2018 Jun 14. Epub 2018 Jun 14.

Division of Anatomical Pathology, NSW Health Pathology (North), John Hunter Hospital, New Lambton, NSW, Australia.

We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. Read More

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June 2018
10 Reads

A novel STK11 missense mutation (c.346G > T) causing Peutz-Jeghers syndrome in a Chinese male with a negative family history.

Dig Liver Dis 2018 08 4;50(8):864-866. Epub 2018 Jun 4.

Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China. Electronic address:

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August 2018
1 Read

Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome.

VideoGIE 2018 Apr 22;3(4):119-120. Epub 2018 Feb 22.

Gastroenterology Department, Dudley Group Hospitals, Birmingham City University, Birmingham, UK.

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April 2018
1 Read

Genome-wide surveys reveal polarity and cytoskeletal regulators mediate LKB1-associated germline stem cell quiescence.

BMC Genomics 2018 Jun 15;19(1):462. Epub 2018 Jun 15.

Department of Biology, McGill University, 1205 avenue Docteur Penfield, Montreal, Quebec, H3A 1B1, Canada.

Background: Caenorhabditis elegans can endure long periods of environmental stress by altering their development to execute a quiescent state called "dauer". Previous work has implicated LKB1 - the causative gene in the autosomal dominant, cancer pre-disposing disease called Peutz-Jeghers Syndrome (PJS), and its downstream target AMPK, in the establishment of germline stem cell (GSC) quiescence during the dauer stage. Loss of function mutations in both LKB1/par-4 and AMPK/aak(0) result in untimely GSC proliferation during the onset of the dauer stage, although the molecular mechanism through which these factors regulate quiescence remains unclear. Read More

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June 2018
2 Reads

Results of surveillance in individuals at high-risk of pancreatic cancer: A systematic review and meta-analysis.

United European Gastroenterol J 2018 May 8;6(4):489-499. Epub 2018 Jan 8.

Digestive and Liver Disease Unit, S. Andrea Hospital, Rome, Italy.

Background: Data on surveillance for pancreatic ductal adenocarcinoma (PDAC) in high-risk individuals (HRIs) with "familial pancreatic cancer" (FPC) and specific syndromes are limited and heterogeneous.

Objective: We conducted a systematic review and meta-analysis of PDAC surveillance studies in HRIs.

Methods: Prevalence of solid/cystic pancreatic lesions and of lesions considered a successful target of surveillance (proven resectable PDAC and high-grade precursors) was pooled across studies. Read More

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May 2018
1 Read

Testis-sparing surgery of unilateral testicular large-cell calcifying Sertoli cell tumor: a sporadic case.

Turk J Urol 2018 Jul;44(4):370-372

Department of Urology, Medeniyet University Göztepe Training and Research Hospital, İstanbul, Turkey.

Testicular sex cord-stromal tumors constitute a small portion of all types of testicular tumors. Only 1% of these tumors are pure Sertoli cell tumors. Sertoli cell tumors have three identified subgroups: large-cell calcifying (LCCSCT), sclerosing Sertoli cell and general type. Read More

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July 2018
10 Reads

Crossed-clip strangulation for the management of small intestinal polyps in patients with Peutz-Jeghers syndrome.

Dig Endosc 2018 Sep 6;30(5):677. Epub 2018 Jun 6.

Division of Gastroenterology, Department of Medicine, Jichi Medical University, Shimotsuke, Japan.

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September 2018
4 Reads

Diagnostic Yield From Screening Asymptomatic Individuals at High Risk for Pancreatic Cancer: a Meta-analysis of Cohort Studies.

Clin Gastroenterol Hepatol 2018 May 15. Epub 2018 May 15.

Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.

Background & Aims: There have been few studies of abdominal imaging screening of individuals at high risk for pancreatic cancer (based on family history or genetic variants). We performed a meta-analysis of prospective cohort studies to determine the diagnostic yield and outcomes of abdominal imaging screening for asymptomatic individuals at high risk.

Methods: Through a systematic review of multiple electronic databases and conference proceedings through July 2017, we identified prospective cohort studies (>20 patients) of asymptomatic adults determined to be at high-risk of pancreatic cancer (lifetime risk >5%, including specific genetic-associated conditions) who were screened by endoscopic ultrasound (EUS) and/or magnetic resonance imaging (MRI) to detect pancreatic lesions. Read More

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May 2018
2 Reads

Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.

BMC Med Genet 2018 May 2;19(1):66. Epub 2018 May 2.

Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.

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. Read More

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May 2018
3 Reads

Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity.

Gastroenterology Res 2018 Apr 7;11(2):150-153. Epub 2018 Apr 7.

Division of Gastroenterology, Slocum-Dickson Medical Group, 1729 Burrstone Road, New Hartford, NY 13413, USA.

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. Read More

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April 2018
1 Read

Peutz-Jeghers Syndrome: A Circumventable Emergency.

Indian J Dermatol 2018 Mar-Apr;63(2):168-171

Department of Pathology, Medical College and Hospital, Kolkata, West Bengal, India.

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. Read More

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April 2018
2 Reads

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.

BMC Surg 2018 Apr 23;18(1):24. Epub 2018 Apr 23.

Department of Gastroenterology, Airforce General Hospital of PLA, 30 Fucheng Rd, Beijing, 100142, China.

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. Read More

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April 2018
3 Reads

Molecular cloning, polymorphism, and expression analysis of the LKB1/STK11 gene and its association with non-specific digestive disorder in rabbits.

Mol Cell Biochem 2018 Dec 10;449(1-2):127-136. Epub 2018 Apr 10.

Institute of Animal Genetics and Breeding, Sichuan Agricultural University, Chengdu Campus, Huimin Road #211, Wenjiang, 611130, Sichuan, China.

Liver kinase B1 (LKB1, also called STK11) encodes a serine/threonine kinase mutated in Peutz-Jeghers cancer syndrome characterized by gastrointestinal polyposis. Although LKB1 plays an important role in regulating energy homeostasis, cell growth, and metabolism via activation of adenosine monophosphate (AMP)-activated protein kinase (AMPK), nothing is known about its molecular characteristics and possible involvement in non-specific digestive disorder (NSDD) of rabbits. In the present study, we first cloned the coding sequence (CDS) of rabbit LKB1, which consisted of 1317 bp encoding 438 amino acids (AAs) and contained a highly conserved S_TKc kinase domain. Read More

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December 2018
16 Reads

Controlling the master-upstream regulation of the tumor suppressor LKB1.

Oncogene 2018 Jun 15;37(23):3045-3057. Epub 2018 Mar 15.

Internal Medicine D, University Hospital of Münster, Domagkstr. 3a, 48149, Münster, Germany.

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. Read More

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Intraoperative enteroscopy in Peutz-Jeghers syndrome.

Am J Gastroenterol 2018 Jun 1;113(6):799. Epub 2018 Mar 1.

Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, USA.

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June 2018
1 Read

Unusual findings in Peutz-Jeghers syndrome: endoscopic and histologic appearance of gastric hamartomatous polyposis with foveolar dysplasia.

Gastrointest Endosc 2018 08 27;88(2):399-400. Epub 2018 Feb 27.

Digestive Endoscopy, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.

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August 2018
1 Read

Massive intussusception caused by a solitary Peutz-Jeghers type hamartomatous polyp.

Ann R Coll Surg Engl 2018 Apr 27;100(4):e91-e93. Epub 2018 Feb 27.

Surgical Department, General Hospital of Agrinio , Agrinio, Aitoloakarnania , Greece.

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. Read More

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April 2018
20 Reads

Small-Bowel Solitary Peutz-Jeghers-Type Hamartomatous Polyp Treated With Endoscopic Polypectomy.

Clin Gastroenterol Hepatol 2018 Feb 21. Epub 2018 Feb 21.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan, Republic of China; School of Medicine, China Medical University Hospital, Taichung, Taiwan, Republic of China; Taiwan Association for the Study of Small Intestinal Diseases, Taoyuan City, Taiwan, Republic of China.

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February 2018

Safety and efficacy of small bowel polypectomy using a balloon-assisted enteroscope in pediatric patients with Peutz-Jeghers syndrome.

Rev Gastroenterol Mex 2018 Jul - Sep;83(3):234-237. Epub 2018 Feb 12.

Servicio de Gastroenterología, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.

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. Read More

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November 2018
2 Reads

Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein.

J Biomol Struct Dyn 2018 Feb 23:1-15. Epub 2018 Feb 23.

a Centre for Bioinformatics, School of Life Sciences , Pondicherry University , Puducherry 605014 , India.

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. Read More

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February 2018
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[Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):89-91

Unit 8, Department of Ontology Medicine, the Third Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150081, China. Email:

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. Read More

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February 2018
4 Reads