2,474 results match your criteria Peutz-Jeghers Syndrome


Sex-Cord Tumor with Annular Tubules with Unusual Morphology in an Infant with Peutz-Jeghers Syndrome.

Fetal Pediatr Pathol 2020 Jul 1:1-6. Epub 2020 Jul 1.

Department of Pediatric Surgery, Park Clinic, Kolkata, India.

Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. Read More

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http://dx.doi.org/10.1080/15513815.2020.1786200DOI Listing

Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five.

Mol Genet Genomic Med 2020 Jun 23:e1381. Epub 2020 Jun 23.

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.

Background: Pathogenic variants in STK11, also designated as LKB1, cause Peutz-Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer.

Methods: A male meeting the clinical diagnostic criteria for Peutz-Jeghers syndrome underwent next-generation sequencing. To validate the predicted splicing impact of a detected STK11 variant, we performed RNA-Seq on mRNA extracted from patient-derived Epstein-Barr virus-transformed lymphocytes treated with cycloheximide to inhibit nonsense-mediated decay ex vivo. Read More

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http://dx.doi.org/10.1002/mgg3.1381DOI Listing

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Fam Cancer 2020 Jun 6. Epub 2020 Jun 6.

Danish Polyposis Registry, Hvidovre Hospital, Gastrounit, Hvidovre, Denmark.

Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. Read More

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http://dx.doi.org/10.1007/s10689-020-00191-4DOI Listing

Characteristics of early-onset pancreatic cancer and its association with familial pancreatic cancer and hereditary pancreatic cancer syndromes.

Ann Gastroenterol Surg 2020 May 27;4(3):229-233. Epub 2020 Mar 27.

Department of Gastroenterological Surgery Graduate School of Medicine Osaka University Osaka Japan.

The incidence of pancreatic cancer is high among those in their sixties to seventies but low in those in their fifties or younger. Although there is no unified definition regarding the age of early-onset pancreatic cancer, previously published reports suggest that, compared to later-onset pancreatic cancer patients, early-onset pancreatic cancer patients tend to be detected at advanced stages and thus have poor prognoses, but they do not show significantly higher rates of patients with genetic factors. On the other hand, it has been reported that patients with familial pancreatic cancer and hereditary pancreatic cancer syndromes often develop pancreatic cancer at a young age. Read More

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http://dx.doi.org/10.1002/ags3.12326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240141PMC

Ovarian sex cord tumour with annular tubules in a 13-year-old female: a case report.

Oxf Med Case Reports 2020 Apr 23;2020(4):omaa024. Epub 2020 May 23.

Department of Pathology, Kilimanjaro Christian Medical Center (KCMC), Moshi, Tanzania.

Sex cord tumour with annular tubules (SCTAT) is uncommon and distinctive type of sex cord-stromal tumours of the ovary which develops from sex cord cells. Most of SCTATs are strongly associated with Peutz-Jeghers syndrome (PJS) and have low malignancy potential; however, 20% of non-PJS-associated SCTATs have been reported to have high malignancy potential. Herein, we present a 13-year-old female who presented with severe abdominal pain localized in the right lower side, associated with nausea. Read More

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http://dx.doi.org/10.1093/omcr/omaa024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243713PMC

[Tumor of the sexual cords with ovarian annular tubules associated with Peutz-Jeghers syndrome in adolescence: a case report].

Arch Argent Pediatr 2020 Jun;118(3):e329-e332

Sección de Ginecología, Clínica Pediátrica, Hospital Nacional de Pediatría S. A. M. I. C. "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma de Buenos Aires.

Tumors of the sexual and stromal cords are rare neoplasms, corresponding to 8 % of primary ovarian tumors. The tumor of the sexual cords with annular tubules of the ovary is considered a subtype and is uncommon. It can occur sporadically or associated with Peutz-Jeghers Syndrome, having different behavior and characteristics in each situation. Read More

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http://dx.doi.org/10.5546/aap.2020.e329DOI Listing

Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.

Biomed Res Int 2020 11;2020:9159315. Epub 2020 May 11.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition.

Aims: We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1155/2020/9159315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240661PMC

Intestinal intussusception in Peutz Jeghers syndrome: A case report.

Ann Med Surg (Lond) 2020 Jun 4;54:106-108. Epub 2020 May 4.

Department of Digestive Surgery, Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Hamartomatous polyposis is a rare cause of intussusception in adults. But this complication is the most frequent for patient with Peutz Jeghers syndrome. Small bowel screening is recommended for those patients in order to prevent emergency repetitive surgeries. Read More

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http://dx.doi.org/10.1016/j.amsu.2020.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225367PMC

AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review.

Gastroenterology 2020 May 19. Epub 2020 May 19.

Johns Hopkins University, Baltimore, Maryland.

Description: The purpose of this American Gastroenterological Association Institute Clinical Practice Update is to describe the indications for screening for pancreas cancer in high-risk individuals.

Methods: The evidence reviewed in this work is based on reports of pancreas cancer screening studies in high-risk individuals and expert opinion. BEST PRACTICE ADVICE 1: Pancreas cancer screening should be considered in patients determined to be at high risk, including first-degree relatives of patients with pancreas cancer with at least 2 affected genetically related relatives. Read More

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http://dx.doi.org/10.1053/j.gastro.2020.03.088DOI Listing

Emerging Therapeutic Implications of STK11 Mutation: Case Series.

Oncologist 2020 May 12. Epub 2020 May 12.

Columbia University Irving Medical Center, New York, New York, USA.

STK11 was first recognized as a tumor suppressor gene in the late 1990s based on linkage analysis of patients with Peutz-Jeghers syndrome. STK11 encodes LKB1, an intracellular serine-threonine kinase involved in cellular metabolism, cell polarization, regulation of apoptosis, and DNA damage response. Recurrent somatic loss-of-function mutations occur in multiple cancer types, most notably in 13% of lung adenocarcinomas. Read More

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http://dx.doi.org/10.1634/theoncologist.2019-0846DOI Listing

Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.

World J Gastroenterol 2020 Apr;26(16):1926-1937

Department of General Surgery, Air Force Medical Center, PLA, Beijing 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is a rare disease with clinical manifestations of pigmented spots on the lips, mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors. The clinical heterogeneity of PJS is obvious, and the relationship between clinical phenotype and genotype is still unclear.

Aim: To investigate the mutation status of hereditary colorectal tumor-associated genes in hamartoma polyp tissue of PJS patients and discuss its relationship with the clinicopathological data of PJS. Read More

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http://dx.doi.org/10.3748/wjg.v26.i16.1926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201153PMC

Small bowel polyp resection using device-assisted enteroscopy in Peutz-Jeghers Syndrome: Results of a specialised tertiary care centre.

United European Gastroenterol J 2020 Mar 10;8(2):204-210. Epub 2019 Sep 10.

Gastroenterology and Endoscopy Unit, Georges Pompidou European Hospital, Paris, France.

Introduction: Enteroscopy resection of small bowel polyps in Peutz-Jeghers syndrome has only been described in small case series. Herein, we aimed to assess the efficacy of enteroscopy resection of small bowel polyps within a specialised tertiary care centre and the impact on intraoperative enteroscopy.

Methods: This was an observational single-centre study. Read More

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http://dx.doi.org/10.1177/2050640619874525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079274PMC

[The pathology of hereditary ovarian tumors].

Ann Pathol 2020 Apr 13;40(2):85-94. Epub 2020 Mar 13.

Institut multisite des hospices civils de Lyon, centre hospitalier Lyon Sud, 165, chemin du Grand-Revoyet, 69495 Pierre Bénite cedex, France. Electronic address:

About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch syndrome, responsible of epithelial tumors. However, the pathologist should be aware of rare hereditary syndromes responsible of non-epithelial ovarian tumors. Ovarian tumors associated with germline mutation of BRCA genes are essentially high-grade serous carcinomas of tubal origin, while those seen in Lynch syndrome are most often endometrioid or clear cell carcinomas. Read More

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http://dx.doi.org/10.1016/j.annpat.2020.02.015DOI Listing

[Capecitabine aggravating lentiginosis].

Therapie 2020 Feb 21. Epub 2020 Feb 21.

Département de dermatologie, hôpital Farhat Hached, 4000 Sousse, Tunisie.

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http://dx.doi.org/10.1016/j.therap.2020.02.015DOI Listing
February 2020

Peutz-Jeghers syndrome with mesenteric fibromatosis: A case report and review of literature.

World J Clin Cases 2020 Feb;8(3):577-586

Department of Ultrasound, Zhejiang Hospital, Hangzhou 310013, Zhejiang Province, China.

Background: Peutz-Jeghers syndrome (PJS) and mesenteric fibromatosis (MF) are rare diseases, and PJS accompanying MF has not been previously reported. Here, we report a case of a 36-year-old man with both PJS and MF, who underwent total colectomy and MF surgical excision without regular follow-up. Two years later, he sought treatment for recurrent acute abdominal pain. Read More

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http://dx.doi.org/10.12998/wjcc.v8.i3.577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031834PMC
February 2020

Single incision laparoscopic assisted double balloon enteroscopy: a novel technique to manage small bowel pathology.

Surg Endosc 2020 Jun 18;34(6):2773-2779. Epub 2020 Feb 18.

The Wolfson Unit for Endoscopy, St Mark's Hospital, Watford Road, Harrow, London, HA1 3UJ, UK.

Background And Aims: Double balloon enteroscopy (DBE) has revolutionised the diagnosis and treatment of small bowel (SB) conditions. However, deep SB insertion can be challenging in patients with a history of abdominal surgery and a two-step procedure is required when findings are not amenable to endoscopic therapy. This case series reports the development of laparoscopically assisted DBE (LA-DBE) using single incision laparoscopic surgery (SILS). Read More

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http://dx.doi.org/10.1007/s00464-020-07446-2DOI Listing

Malignant tumors associated with Peutz-Jeghers syndrome: Five cases from a single surgical unit.

World J Clin Cases 2020 Jan;8(2):264-275

Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease easily causing secondary malignant changes without effective treatments.

Aim: To assess the clinical characteristics, diagnosis, and treatment of malignant changes secondary to PJS.

Methods: The clinical data of five patients with malignant changes secondary to PJS diagnosed and treated at Beijing Friendship Hospital from June 2014 to January 2017 were retrospectively analyzed; the follow-up ended in May 2018. Read More

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http://dx.doi.org/10.12998/wjcc.v8.i2.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000928PMC
January 2020

and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes.

Radiographics 2020 Mar-Apr;40(2):306-325. Epub 2020 Feb 7.

From the Departments of Radiology (S.H.C., R.M., M.M.J., M.K.P.), Clinical Genetics (W.C.), and Obstetrics and Gynecology (J.G.C.), David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, Calif; Hoag Hospital, Newport Harbor Radiology Associates, Newport Beach, Calif (N.W.); and Department of Radiology, Olive View-UCLA Medical Center, Sylmar, Calif (A.R.R.).

In addition to the well-characterized and hereditary breast and ovarian cancer syndromes, many other syndromes that are associated with genetic mutations predispose individuals to an increased risk of breast and gynecologic malignancies. Many mutated genes encode for tumor-suppressor products and are inherited in an autosomal dominant manner. Mutations markedly increase an individual's lifetime risk of cancers in different organ systems, depending on the associated syndrome. Read More

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http://dx.doi.org/10.1148/rg.2020190084DOI Listing
February 2020

Video capsule endoscopy in the diagnosis of Peutz-Jeghers syndrome.

Rev Gastroenterol Mex 2020 Jan 17. Epub 2020 Jan 17.

Hospital Universitario San Cecilio, Granada, España.

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http://dx.doi.org/10.1016/j.rgmx.2019.10.004DOI Listing
January 2020

Ovarian Sertoli cell tumours: practical points.

J Pak Med Assoc 2020 Jan;70(1):129-133

Department of Endocrinology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Rarity of Sertoli cell tumours contributes to a low index of suspicion and therefore a thorough knowledge of the clinicopathological and immunological characteristics of such tumours is essential to diagnosis and proper management of the treatment and follow-up. The current narrative review of literature was planned to focus on ovarian Sertoli cell tumours that arise from the sex cords cells, which are typically benign unilateral neoplasia incidentally detected, or associated with hormonal hyperactivity, in women of reproductive age. A priory unpublished case of a 35-year old female is also introduced as the base of discussion Abdominal massrelated syndrome and vaginal bleeding anomalies have been reported. Read More

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http://dx.doi.org/10.5455/JPMA.1381DOI Listing
January 2020

Small bowel adenocarcinoma: Results from a nationwide prospective ARCAD-NADEGE cohort study of 347 patients.

Int J Cancer 2020 Aug 22;147(4):967-977. Epub 2020 Jan 22.

Department of Oncology, Saint Antoine Hospital, APHP, Paris, France.

Small bowel adenocarcinoma (SBA) is a rare tumour. We conducted a prospective cohort to describe the prevalence, survival and prognostic factors in unselected SBA patients. The study enrolled patients with all stages of newly diagnosed or recurrent SBA at 74 French centres between January 2009 and December 2012. Read More

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http://dx.doi.org/10.1002/ijc.32860DOI Listing
August 2020
5.085 Impact Factor

Primary experience of small bowel polypectomy with balloon-assisted enteroscopy in young pediatric Peutz-Jeghers syndrome patients.

Eur J Pediatr 2020 Apr 21;179(4):611-617. Epub 2019 Dec 21.

Department of Gastroenterology, Air Force Medical Center, The Fourth Military Medical University, PLA, NO.30 Fucheng Road, Beijing, 100023, China.

For Peutz-Jeghers syndrome (PJS) patients, small bowel polyps develop and result in symptoms at an early age. Balloon-assisted enteroscopy (BAE) is verified as a safe and efficient choice to evaluate and remove small intestinal polyps in adult PJS. But the safety of BAE, especially BAE-facilitated polypectomy for young pediatrics, is little known. Read More

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http://dx.doi.org/10.1007/s00431-019-03534-1DOI Listing

Female Adnexal Tumor of Probable Wolffian Origin in the Setting of Peutz-Jeghers Syndrome.

Int J Gynecol Pathol 2019 Dec 18. Epub 2019 Dec 18.

Tufts University School of Medicine, Boston, Massachusetts (A.R.B.) Maine Medical Center, Portland, Maine (A.R.B., B.F.K.).

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http://dx.doi.org/10.1097/PGP.0000000000000656DOI Listing
December 2019

Colon cancer of Peutz-Jeghers syndrome with gallolyticus endocarditis.

Clin J Gastroenterol 2019 Dec 16. Epub 2019 Dec 16.

Department of Cardiovascular Surgery, Shonan Fujisawa Tokushukai Hospital, Fujisawa, Kanagawa, Japan.

We report a case of Peutz-Jeghers syndrome with gallolyticus endocarditis which has not yet been reported. Colon cancer was observed and implicated in Peutz-Jeghers syndrome. A 44-year-old female with fever and heart murmur was diagnosed as infective endocarditis caused by streptococcus gallolyticus. Read More

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http://dx.doi.org/10.1007/s12328-019-01080-9DOI Listing
December 2019

[Peutz-Jeghers syndrome and cancer:a retrospective study in 14 Japanese patients with Peutz-Jeghers syndrome].

Nihon Shokakibyo Gakkai Zasshi 2019 ;116(12):1015-1021

Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences.

We retrospectively investigated 14 Japanese patients with Peutz-Jeghers (PJ) syndrome who were treated in six hospitals to determine the prevalence of cancer in Japanese patients with PJ syndrome. The study included seven males and seven females. The mean age at the time of diagnosis of PJ syndrome was 28. Read More

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http://dx.doi.org/10.11405/nisshoshi.116.1015DOI Listing
December 2019

Peutz-Jeghers syndrome complicated with intussusception in late pregnancy.

Lancet Oncol 2019 12;20(12):e729

Department of Gastrointestinal Surgery, The Affiliated Hospital of Southwest Medical University, Luzhou, 646000, China.

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http://dx.doi.org/10.1016/S1470-2045(19)30692-8DOI Listing
December 2019

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).

Gut 2020 03 28;69(3):411-444. Epub 2019 Nov 28.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. Read More

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http://dx.doi.org/10.1136/gutjnl-2019-319915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034349PMC

A rare case of gastric-type mucinous adenocarcinoma in a woman with Peutz-Jeghers syndrome.

Obstet Gynecol Sci 2019 Nov 11;62(6):474-477. Epub 2019 Oct 11.

Department of Obstetrics and Gynecology, Konkuk University School of Medicine, Seoul, Korea.

Adenocarcinoma of the cervix is less common than squamous cell carcinoma. Minimal deviation adenocarcinoma (adenoma malignum) is considered an extremely well-differentiated variant of GAS. An association exists between GAS and Peutz-Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps in the gastrointestinal tracts. Read More

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http://dx.doi.org/10.5468/ogs.2019.62.6.474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856476PMC
November 2019

High-Tech Diagnostic Methods and Enteroscopic Treatment of Children with Peutz-Jeghers Syndrome.

Eur J Pediatr Surg 2019 Nov 26. Epub 2019 Nov 26.

Department of Pediatric Surgery and Urology-Andrology, Sechenov University, Moscow, Russia.

Introduction:  Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary hamartomatous polyposis with predominant localization in the jejunum and ileum and high risk of bowel perforation after traditional polypectomy. The modern enteroscopy is the only possible technique for visualizing and performing intraluminal endoscopic microsurgical manipulations in the deep sections of the small intestine. The study aims to develop an optimal method for the diagnosis and treatment of polyps in children with PJS. Read More

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http://dx.doi.org/10.1055/s-0039-3400286DOI Listing
November 2019
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PIGMENTED MACULES REMOVAL WITH COSMETIC TREATMENT MAY COVER UP PEUTZ-JEGHERS SYNDROME: A CASE REPORT.

Gastroenterol Nurs 2019 Nov/Dec;42(6):504-507

Feihong Ji, MD, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Chenyu Sun, MD, MSc, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China Province. Feras Kamel Rizeq, MPH, The Avalon University School of Medicine, Santa Rosaweg, Willemstad, Curaçao. Minglong Pu, MD, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Hongwei Yang, PhD, MD, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Xinhua Dong, MD, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Zhengyang Wang, PhD, MD, Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Weilong Chang, PhD, MD, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China. Zhen Yang, MD, is Associate Professor and Associate Chief Physician, Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

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http://dx.doi.org/10.1097/SGA.0000000000000449DOI Listing
June 2020
0.561 Impact Factor

Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.

Authors:

Obstet Gynecol 2019 12;134(6):e143-e149

A hereditary cancer syndrome is a genetic predisposition to certain types of cancer, often with onset at an early age, caused by inherited pathogenic variants in one or more genes. Most hereditary cancer syndromes exhibit autosomal dominant inheritance. The most common hereditary cancer syndromes related to women's cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer. Read More

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http://dx.doi.org/10.1097/AOG.0000000000003562DOI Listing
December 2019

Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.

Authors:

Obstet Gynecol 2019 12;134(6):1366-1367

A hereditary cancer syndrome is a genetic predisposition to certain types of cancer, often with onset at an early age, caused by inherited pathogenic variants in one or more genes. Most hereditary cancer syndromes exhibit autosomal dominant inheritance. The most common hereditary cancer syndromes related to women's cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer. Read More

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http://dx.doi.org/10.1097/AOG.0000000000003563DOI Listing
December 2019

Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation.

Sci Rep 2019 11 11;9(1):16426. Epub 2019 Nov 11.

Division of Computer-Aided Drug Design, The Red-Green Research Centre, BICCB, 218 Elephant Road, Dhaka, 1205, Bangladesh.

Serine-threonine kinase11 (STK11) is a tumor suppressor gene which plays a key role in regulating cell growth and apoptosis. It is widely known as a multitasking kinase and engaged in cell polarity, cell cycle arrest, chromatin remodeling, energy metabolism, and Wnt signaling. The substitutions of single amino acids in highly conserved regions of the STK11 protein are associated with Peutz-Jeghers syndrome (PJS), which is an autosomal dominant inherited disorder. Read More

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http://dx.doi.org/10.1038/s41598-019-52308-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848484PMC
November 2019
5.078 Impact Factor

Hereditary Polyposis Syndromes.

Curr Treat Options Gastroenterol 2019 Dec;17(4):650-665

Division of Gastroenterology, University of California San Francisco, 505 Parnassus Ave, Room S357, San Francisco, CA, 941943, USA.

Purpose Of Review: Colorectal cancer (CRC) is the third most common cancer in the USA and inherited cancer syndromes are responsible for approximately 3-5% of all CRCs. Genetic testing costs have plummeted in recent years; however, awareness and referral of high-risk patients for testing is still very low. We review the salient clinical features, genetics, and management of well-defined gastrointestinal (GI) hereditary polyposis syndromes including familial adenomatous polyposis, MUTYH-associated polyposis, and the hamartomatous polyposis syndromes. Read More

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http://dx.doi.org/10.1007/s11938-019-00251-4DOI Listing
December 2019

Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers.

Diagnostics (Basel) 2019 Oct 31;9(4). Epub 2019 Oct 31.

Division of Endoscopy, Shizuoka Cancer Center, Shizuoka 411-8777, Japan.

A family history of pancreatic cancer (PC) is a risk factor of PC, and risk levels increase as affected families grow in number and/or develop PC at younger ages. Familial pancreatic cancer (FPC) is defined as a client having at least two PC cases in a first degree relatives. In the narrow sense, FPC does not include some inherited cancer syndromes that are known to increase the risks of PC, such as Peutz-Jeghers syndrome (PJS), hereditary pancreatitis (HP), hereditary breast ovarian cancer syndrome (HBOC), and so on. Read More

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http://dx.doi.org/10.3390/diagnostics9040169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963266PMC
October 2019

Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.

Hered Cancer Clin Pract 2019 23;17:30. Epub 2019 Oct 23.

4Department of Gastroenterology, St Vincent's Hospital, Darlinghurst, NSW Australia.

Background: Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk individuals is hoped to improve survival outcomes by detection of precursor lesions or early-stage malignancy.

Methods: Since 2011, a national high-risk cohort recruited through St Vincent's Hospital, Sydney, has undergone prospective PC screening incorporating annual endoscopic ultrasound, formal genetic counselling and mutation analysis as appropriate. Read More

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http://dx.doi.org/10.1186/s13053-019-0129-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813120PMC
October 2019

Practical management of polyposis syndromes.

Frontline Gastroenterol 2019 Oct 30;10(4):379-387. Epub 2019 Mar 30.

Polyposis Registry, St Mark's Hospital, Harrow, UK.

Hereditary bowel tumours are usually part of a distinct syndrome which require management of both intestinal and extra-intestinal disease. Polyposis syndromes include: Familial adenomatous polyposis, MUTYH-associated polyposis, Serrated polyposis syndrome, Peutz-Jeghers syndrome, Juvenile polyposis syndrome and PTEN-hamartomatous syndromes. Of all colorectal cancers (CRC), 5%-10% will be due to an underlying hereditary CRC syndrome. Read More

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http://dx.doi.org/10.1136/flgastro-2018-101053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788137PMC
October 2019

Solitary Peutz-Jeghers type hamartomatous polyp in the transverse colon of an adolescent with ulcerative colitis.

Dig Liver Dis 2019 12 14;51(12):1738. Epub 2019 Oct 14.

Division of Gastroenterology, Hepatology & Nutrition, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.dld.2019.09.005DOI Listing
December 2019
2.963 Impact Factor

A case of recurrent pigmented macules in Laugier-Hunziker syndrome treated using a Q-switched Nd-YAG laser.

J Cosmet Laser Ther 2019 16;21(7-8):395-397. Epub 2019 Oct 16.

Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Songpa-gu, Republic of Korea.

Laugier-hunziker syndrome (LHS) is a sporadic and acquired melanotic pigmentation of lips and oral mucosa which is not associated with gastrointestinal hamartomas in contrast to Peutz-Jeghers syndrome. Treatment using Q-switched neodymium: yttrium-aluminum-garnet (QS-ND:YAG) laser, Q-switched alexandrite laser and, cryotherapy have been reported. However, to the best of our knowledge, there is no report regarding long-term follow-up for recurrence. Read More

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http://dx.doi.org/10.1080/14764172.2019.1680850DOI Listing
June 2020
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Long-Term Outcome in Patients with a Solitary Peutz-Jeghers Polyp.

Gastroenterol Res Pract 2019 8;2019:8159072. Epub 2019 Sep 8.

Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

Background: Clinical characteristics and prognosis of patients with a solitary Peutz-Jeghers polyp (PJP) have not been fully investigated.

Methods: Solitary PJP was diagnosed when a single hamartomatous lesion was identified in the gastrointestinal tract of patients without mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome. We retrospectively reviewed 51 patients (32 men and 19 women) with a solitary PJP and analyzed the sex, age at diagnosis, endoscopic features, and outcomes in this patient group. Read More

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http://dx.doi.org/10.1155/2019/8159072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754916PMC
September 2019
1 Read

Combined endoscopic and surgical management of small-bowel polyposis in a patient with Peutz-Jeghers syndrome.

Endoscopy 2020 Mar 27;52(3):E102-E103. Epub 2019 Sep 27.

Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic Foundation, Cleveland, Ohio, United States.

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http://dx.doi.org/10.1055/a-1011-4122DOI Listing
March 2020
1 Read
5.053 Impact Factor

Peutz-Jeghers syndrome in dermatology.

Acta Dermatovenerol Alp Pannonica Adriat 2019 Sep;28(3):135-137

Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, Russia.

Peutz-Jeghers syndrome is a rare autosomal dominant disorder. Approximately 1:25,000 to 1:280,000 cases are registered annually. The pathogenesis of the disease is based on the mutation of the STK 11 gene on chromosome 19. Read More

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September 2019
3 Reads

[Analysis of STK11 gene variants among 64 patients with Peutz-Jeghers syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Sep;36(9):862-865

Hebei North College, Zhangjiakou, Hebei 075000, China, Email:

Objective: To screen for pathogenic variants in the coding regions of STK11 gene among Chinese patients with Peutz-Jeghers syndrome (PJS).

Methods: Peripheral blood samples were collected from 64 patients. The coding regions of the STK11 gene were detected by PCR and Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.002DOI Listing
September 2019
4 Reads

Peutz-Jeghers Type Polyp of the Appendix with Review of Literature.

Case Rep Pathol 2019 25;2019:7584070. Epub 2019 Jul 25.

George E. Wahlen Department of Veterans Affairs Medical Center, Department of Pathology, 500 Foothill Dr, Salt Lake City, UT 84148, USA.

Hamartomatous polyps of Peutz-Jeghers type are strongly associated with Peutz-Jeghers polyposis syndrome and are predominantly encountered in the small intestine. Sporadic cases are uncommonly reported. We report a case of a polyp identified incidentally in the appendix of a patient undergoing diagnostic imaging due to a history of hepatitis C infection. Read More

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http://dx.doi.org/10.1155/2019/7584070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683803PMC
July 2019
2 Reads

Composition of the mucosa-associated microbiota along the entire gastrointestinal tract of human individuals.

United European Gastroenterol J 2019 08 17;7(7):897-907. Epub 2019 May 17.

Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Background: Homeostasis of the gastrointestinal tract depends on a healthy bacterial microbiota, with alterations in microbiota composition suggested to contribute to diseases. To unravel bacterial contribution to disease pathology, a thorough understanding of the microbiota of the complete gastrointestinal tract is essential. To date, most microbial analyses have either focused on faecal samples, or on the microbial constitution of one gastrointestinal location instead of different locations within one individual. Read More

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http://dx.doi.org/10.1177/2050640619852255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683645PMC
August 2019
2 Reads

An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.

Klin Onkol 2019 ;32(Supplementum2):97-108

Background: It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Read More

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http://dx.doi.org/10.14735/amko2019S97DOI Listing
January 2020
7 Reads

Genetic Causes of Rare Pediatric Ovarian Tumors.

Klin Onkol 2019 ;32(Supplementum2):79-91

Background: Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family. Read More

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http://dx.doi.org/10.14735/amko2019S79DOI Listing
January 2020
8 Reads

Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management.

Radiographics 2019 Sep-Oct;39(5):1280-1301. Epub 2019 Aug 2.

From the Department of Radiology, University of Texas Health Science Center, 7703 Floyd Curl Dr, San Antonio, TX 78229 (V.S.K., L.K., L.M.); Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.K.D.); Department of Radiology, University of Wisconsin Medical Center, Madison, Wis (M.G.L.); and Department of Radiology, University of Texas MD Anderson Cancer Center, Houston, Tex (S.R.P.).

Hereditary gastrointestinal (GI) cancer syndromes due to specific germline mutations are characterized by an increased risk of GI tract malignancies, extra-GI tract cancers, and benign abnormalities. These syndromes include Lynch syndrome, familial adenomatous polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, Cowden syndrome, hereditary diffuse gastric cancer, and hereditary pancreatic cancer. Timely identification of the responsible genes will help predict future cancer risks in these patients and their family members. Read More

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http://dx.doi.org/10.1148/rg.2019180185DOI Listing
May 2020
9 Reads

Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing.

Mod Pathol 2019 12 15;32(12):1823-1833. Epub 2019 Jul 15.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Gastric-type endocervical adenocarcinoma is an uncommon aggressive type of endocervical adenocarcinoma that is not associated with human papillomavirus (HPV). At present, this tumor is classified under the spectrum of mucinous carcinoma of the uterine cervix. The clinical stage of gastric-type endocervical adenocarcinoma at the time of diagnosis is usually more advanced compared to the HPV-associated endocervical adenocarcinoma. Read More

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http://dx.doi.org/10.1038/s41379-019-0305-xDOI Listing
December 2019
4 Reads

FOXO3 on the Road to Longevity: Lessons From SNPs and Chromatin Hubs.

Comput Struct Biotechnol J 2019 13;17:737-745. Epub 2019 Jun 13.

Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, Italy.

Health span is driven by a precise interplay between genes and the environment. Cell response to environmental cues is mediated by signaling cascades and genetic variants that affect gene expression by regulating chromatin plasticity. Indeed, they can promote the interaction of promoters with regulatory elements by forming active chromatin hubs. Read More

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http://dx.doi.org/10.1016/j.csbj.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606898PMC
June 2019
3 Reads