2,541 results match your criteria Peutz-Jeghers Syndrome

Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.

Orphanet J Rare Dis 2021 Jun 8;16(1):261. Epub 2021 Jun 8.

Department of Gastroenterology, Beijing Shijitan Hospital, Capital Medical University, 10 Tieyi Rd., Beijing, 100038, China.

Objective: To report Peutz-Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.

Clinical Presentation And Intervention: PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Read More

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Enteritis cystica profunda with lipoma in the second portion of the duodenum.

Yeungnam Univ J Med 2021 Jun 9. Epub 2021 Jun 9.

Division of Gastroenterology, Department of Internal Medicine, Maryknoll Medical Center, Busan, Korea.

Enteritis cystica profunda (ECP), a rare and benign condition, is defined as the displacement of the glandular epithelium into the submucosa and more profound layers of the small intestinal wall leading to the formation of mucin-filled cystic spaces. ECP frequently occurs in the ileum or jejunum and is associated with diseases such as Crohn disease and Peutz-Jeghers syndrome. ECP also develops in the absence of known pathology. Read More

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A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

Mol Genet Genomic Med 2021 Jun 3:e1729. Epub 2021 Jun 3.

Institutes of Biomedical Sciences, Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Shanxi University, Taiyuan, China.

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine protein kinase STK11 (LKB1).

Methods: STK11 gene variations were identified by analyzing STK11 cDNA and genomic DNA. Minigenes carrying the wild-type and mutant sequences were subjected to in vitro splicing assay to dissect the features of these mutations. Read More

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A Case of Peutz-Jeghers Syndrome Presenting With an Inoperable Periampullary Tumor.

Cureus 2021 Apr 8;13(4):e14359. Epub 2021 Apr 8.

General Surgery, Marmara University School of Medicine, Istanbul, TUR.

Peutz-Jeghers syndrome (PJS) is a syndrome characterized by multiple hamartomatous polyps in the gastrointestinal system and melanin pigments accumulating in the skin and mucous membranes. Patients with PJS have an increased risk of gastrointestinal malignancies. In this syndrome, pancreatic cancer is primarily detected in older ages. Read More

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Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy.

Autops Case Rep 2021 Apr 20;11:e2021279. Epub 2021 Apr 20.

Universidade Estadual Paulista (UNESP), Faculdade de Medicina de Botucatu, Departamento de Patologia, Botucatu, SP, Brasil.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. Read More

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[New guidelines on Peutz-Jeghers syndrome and breast follow-up].

Gynecol Obstet Fertil Senol 2021 Apr 29. Epub 2021 Apr 29.

Service de chirurgie, ICANS-Institut de cancérologie Strasbourg Europe, 17, rue Albert-Calmette, 67200 Strasbourg, France; Hôpitaux universitaires de Strasbourg, CHRU, 1, place de l'hôpital, 67091 Strasbourg, France.

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Inhibition of β-Catenin Activity Abolishes LKB1 Loss-Driven Pancreatic Cystadenoma in Mice.

Int J Mol Sci 2021 Apr 28;22(9). Epub 2021 Apr 28.

Institute of Biomedical Sciences, National Sun Yat-Sen University, Kaohsiung 804, Taiwan.

Pancreatic cancer (PC) is the seventh leading cause of cancer death worldwide, and remains one of our most recalcitrant and dismal diseases. In contrast to many other malignancies, there has not been a significant improvement in patient survival over the past decade. Despite advances in our understanding of the genetic alterations associated with this disease, an incomplete understanding of the underlying biology and lack of suitable animal models have hampered efforts to develop more effective therapies. Read More

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Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations.

Int J Mol Sci 2021 Apr 22;22(9). Epub 2021 Apr 22.

Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Lombardy, Italy.

The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their malignant counterparts, small intestinal glandular precursor lesions, which include adenomas and hamartomas, may arise sporadically or be associated with hereditary tumor syndromes, such as familial adenomatous polyposis, -associated polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. In addition, dysplastic, preinvasive lesions have been observed adjacent to small bowel adenocarcinomas complicating immune-related disorders, such as celiac or Crohn's disease. Read More

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Serine/Threonine Kinase 11 Plays a Canonical Role in Malignant Progression of KRAS-mutant and GNAS-wild-type Intraductal Papillary Mucinous Neoplasms of the Pancreas.

Ann Surg 2021 Mar 3. Epub 2021 Mar 3.

*Department of Investigative Pathology, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan †Institute of Biomedical Research, Sapporo Higashi Tokushukai Hospital, Sapporo, 065-0033, Japan ‡Cancer Genomics and Precision Medicine, Department of Medicine, Asahikawa Medical University, Asahikawa, 078-8510, Japan §Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan ¶Department of Surgery I, Yamagata University Graduate School of Medical Science, Yamagata, 990-9585, Japan. ||Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.

Objective: We aimed to elucidate the clinicopathobiological significance of Serine/Threonine Kinase 11 (STK11) in pancreatic intraductal papillary mucinous neoplasms (IPMNs).

Background: STK11 is a tumor suppressor involved in certain IPMNs, however, its significance is not well known.

Methods: In 184 IPMNs without Peutz-Jeghers syndrome, we analyzed expression of STK11 and phosphorylated-AMPKα in all cases, and p16, p53, SMAD4, and β-catenin in 140 cases by immunohistochemistry; and we analyzed mutations in 37 genes, including whole coding exons of STK11, CDKN2A, TP53, and SMAD4, and hotspots of KRAS, BRAF, and GNAS in 64 cases by targeted sequencing. Read More

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Current update on the molecular genetics and management of hereditary ovarian cancers: a primer for radiologists.

Abdom Radiol (NY) 2021 Apr 13. Epub 2021 Apr 13.

Mallinckrodt Institute of Radiology, Washington University in St. Louis, St. Louis, MO, 63110, USA.

More than one-fifth of ovarian cancers are hereditary, with most of them caused by BRCA genes. Malignant ovarian neoplasms are primarily epithelial tumors, a heterogeneous group of tumors with variable genetic backgrounds that translate into different biologic behaviors and morphologic features. Radiologists play an increasingly important role in the diagnosis and management of oncology patients. Read More

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Malignant sex cord tumour of the ovary in Peutz-Jeghers syndrome.

ANZ J Surg 2021 Apr 12. Epub 2021 Apr 12.

Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.

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Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.

Dig Liver Dis 2021 Apr 1. Epub 2021 Apr 1.

First Department of Internal Medicine, University of Pavia, IRCCS San Matteo Hospital Foundation, Viale Golgi 19, 27100, Italy.

Background: Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised.

Aims: To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs.

Methods: This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Read More

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Intestinal obstruction with oral pigmentation: a clue to Peutz-Jeghers syndrome.

BMJ Case Rep 2021 Apr 1;14(4). Epub 2021 Apr 1.

General Surgery, All India Institute of Medical Sciences, Bhubaneswar, India.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder, which manifests as mucocutaneous hyperpigmentation and, intestinal and extraintestinal polyps. The classic triad of abdominal pain, mass and jam-like stools are not found commonly. On clinical examination, a strong suspicion of PJS should be made if patients below 18 years, present with mucocutaneous hyperpigmentation and intestinal obstruction. Read More

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Successful treatment of oral pigmented spots in Chinese subjects with Peutz-Jeghers syndrome using a 755-nm picosecond laser.

Indian J Dermatol Venereol Leprol 2021 Mar-Apr;87(2):288-289

Institute of Dermatology, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

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February 2020

Non-Peutz-Jeghers syndrome-associated ovarian sex cord tumor with annular tubules treated by radiotherapy: a case report and literature review.

J Int Med Res 2021 Mar;49(3):300060521996563

Department of Radiation Oncology, The First Hospital of Jilin University, Changchun, China.

There are no standard treatment options for metastatic and recurrent non-Peutz-Jeghers syndrome (PJS)-associated sex cord tumor with annular tubules (SCTAT). The effects of chemotherapy and/or radiotherapy are still not well-defined. Herein, we present a case of a metastatic and recurrent non-PJS-associated SCTAT showing high serum estradiol and progesterone concentrations after surgery and chemotherapy. Read More

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Appendiceal intussusception secondary to hamartomatous polyps of Peutz-Jegher syndrome.

ANZ J Surg 2020 10;90(10):2144-2145

Department of Colorectal Surgery, Royal North Shore Hospital, Sydney, New South Wales, Australia.

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October 2020

Ileoileal intussusception treated by polypectomy with spiral enteroscopy in Peutz-Jeghers syndrome.

Endoscopy 2021 Mar 5. Epub 2021 Mar 5.

Department of Endoscopy and HepatoGastroenterology, Pavillon L, Edouard Herriot Hospital, Lyon, France.

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Esophageal Cancer: An Updated Review.

South Med J 2021 Mar;114(3):161-168

From the Division of Gastroenterology and Hepatology, University of Connecticut Health Center, Farmington.

The incidence of esophageal cancer (EC) is on the rise. With the distinct subtypes of adenocarcinoma and squamous cell carcinoma comes specific risk factors, and as a result, people of certain regions of the world can be more prone to a subtype. For example, squamous cell carcinoma of the esophagus has the highest incidence in eastern Africa and eastern Asia, with smoking being a major risk factor, whereas adenocarcinoma is more prevalent in North America and western Europe, with gastroesophageal reflux disease being a leading risk factor. Read More

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Next-Generation Sequencing for Non-Ampullary Duodenal Carcinoma Suggesting the Existence of an Adenoma-Carcinoma Sequence.

Case Rep Gastroenterol 2021 Jan-Apr;15(1):62-69. Epub 2021 Jan 25.

Department of Internal Medicine, Kosei Hospital, Tokyo, Japan.

Duodenal tumors with a sporadic adenoma-carcinoma sequence are extremely rare. For such clinically suspected cases without a specific family history, performing a comprehensive gene search is important to understand the germline mutation background. We present a 68-year-old woman without a genetic or familial history of familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, or Lynch syndrome who presented to Kosei Hospital, Japan, with exertional dyspnea induced by abdominal pain lasting 3 weeks. Read More

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January 2021

Peutz-Jeghers syndrome.

Curr Opin Gastroenterol 2021 May;37(3):245-254

2nd Department of Internal Medicine - Gastroenterology, Charles University, Faculty of Medicine in Hradec Kralove and University Hospital, Hradec Kralove, Czech Republic.

Purpose Of Review: Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Hamartomatous polyps located throughout the gastrointestinal tract can be complicated by bleeding and small bowel intussusception, potentially leading to the need for emergency surgery. Individuals suffering from Peutz-Jeghers syndrome have an increased lifetime risk of various forms of cancer (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular). Read More

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A Distinctive Adnexal (Usually Paratubal) Neoplasm Often Associated With Peutz-Jeghers Syndrome and Characterized by STK11 Alterations (STK11 Adnexal Tumor): A Report of 22 Cases.

Am J Surg Pathol 2021 Jan 29. Epub 2021 Jan 29.

University of Chicago Medical Center, Chicago, IL Massachusetts General Hospital, Harvard Medical School, Boston, MA Stanford University School of Medicine, Stanford, CA Institute Bergonié, Comprehensive Cancer Center, Bordeaux, France Memorial Sloan Kettering Cancer Center, New York, NY Spectrum Healthcare Partners, Portland, ME Mayo Clinic, Rochester, MN Lund University, Lund, Sweden Baylor College of Medicine, Houston, TX Maastricht University Medical Center, Maastricht, The Netherlands Imperial College London, London, UK Catholic University of Sacred Heart, Rome, Italy Belfast Health and Social Care Trust, Belfast, Northern Ireland.

We describe 22 examples of a novel, usually paratubal, adnexal tumor associated with Peutz-Jeghers syndrome in nearly 50% of cases that harbored STK11 alterations in all tested (n=21). The patients ranged from 17 to 66 years (median=39 y) and the tumors from 4.5 to 25. Read More

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January 2021

The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.

J Clin Med 2021 Jan 27;10(3). Epub 2021 Jan 27.

Center for Hereditary Tumors, Ev. BETHESDA Khs. Duisburg, Academic Hospital University of Düsseldorf, 47053 Duisburg, Germany.

The scientific data to guide the management of Peutz-Jeghers syndrome (PJS) are sparse. The available evidence has been reviewed and discussed by diverse medical specialists in the field of PJS to update the previous guideline from 2010 and formulate a revised practical guideline for colleagues managing PJS patients. Methods: Literature searches were performed using MEDLINE, Embase, and Cochrane. Read More

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January 2021

Peutz-Jeghers syndrome in a woman presenting as intussusception: A case report.

Int J Surg Case Rep 2021 Feb 18;79:286-290. Epub 2021 Jan 18.

Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia. Electronic address:

Introduction: Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant syndrome with a variable to high penetrance that leads to the development of polyps within the gastrointestinal mucosa. Here we report a case of an adult female suffering jejunoileal intussusception due to PJS.

Presentation Of Case: A 30-year-old woman came to an emergency department with a small bowel obstruction caused by intussusception. Read More

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February 2021

Laparoscopic-assisted disinvagination and polypectomy for multiple intussusceptions induced by small intestinal polyps in patients with Peutz-Jeghers syndrome: a case report.

World J Surg Oncol 2021 Jan 21;19(1):22. Epub 2021 Jan 21.

Department of Surgery, JCHO Hoshigaoka Medical Center, 4-8-1, Hoshigaoka, Hirakata, Osaka, 573-8511, Japan.

Background: Peutz-Jeghers syndrome (PJS) is a very rare autosomal dominant genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and hyperpigmentation of the lips, hands, and feet. The hamartomatous polyps in the small intestine often cause intussusception and bleeding.

Case Presentation: A 62-year-old male was hospitalized for treatment of deep vein thrombosis and pulmonary embolism. Read More

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January 2021

Genetics and the Gynecologic Patient.

Ochsner J 2020 ;20(4):446-451

Department of Gynecologic Oncology, Ochsner Clinic Foundation, New Orleans, LA.

The field of hereditary cancer syndromes and genetic testing for patients and families is a rapidly evolving discipline, with an emphasis on cancer prevention. We review the literature regarding the most common genetic syndromes associated with gynecologic malignancies and discuss the management of these conditions. We also examine the logistic process surrounding cancer genetic testing and identify some perceived barriers. Read More

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January 2020

Non-syndromic bilateral ovarian sex cord stromal tumor with annular tubules in a postmenopausal elderly woman as an incidental finding.

Int J Surg Case Rep 2020 3;77:899-902. Epub 2020 Dec 3.

Universidad Autónoma de Nuevo León, Facultad de Medicina, Servicio de Anatomía Patológica y Citopatología del Hospital Universitario de la UANL, Mexico. Electronic address:

Introduction: Sex cord tumors with annular tubules (SCTAT) are very rare neoplasms comprising less than 1% of sex cord ovarian tumors. They usually occur in women of reproductive age and tend to be associated with Peutz Jeghers Syndrome (PJS), be bilateral, multifocal, and small. When diagnosed in older patients they are often described as sporadic, unilateral, predominantly cystic and bigger. Read More

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December 2020

Oral pigmented lesions in syndromic individuals: A systematic review.

Oral Dis 2021 Jan 4. Epub 2021 Jan 4.

Diagnostic Center for Oral Diseases, School of Dentistry, Universidade Federal de Pelotas, Pelotas, Brazil.

Objective: To systematically integrate the available data published in the literature on oral pigmented lesions (OPL) associated with syndromes, summarizing the clinical and demographic features of the individuals.

Materials And Methods: An electronic search was undertaken in six databases. Eligibility criteria were articles in English, Spanish, and Portuguese describing case reports or case series of OPL associated with syndromes. Read More

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January 2021

Recent advances in the pathology of heritable gastric cancer syndromes.

Histopathology 2021 Jan;78(1):125-147

Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal.

Despite the relative rarity of hereditary gastric cancer syndromes, the prompt recognition of their specific clinical features and histopathological characteristics is pivotal in offering patients the most appropriate treatment. In this article, we address the three major inherited syndromes that primarily affect the stomach: hereditary diffuse gastric cancer (HDGC), caused by germline variants in CDH1 and CTNNA1; gastric adenocarcinoma and proximal polyposis of the stomach, caused by germline mutations in promoter 1B of APC; and familial intestinal gastric cancer, which has a poorly defined genetic cause. The main focus will be on HDGC, in light of the recent publication of updated clinical practice guidelines and emerging concepts regarding HDGC histopathology. Read More

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January 2021

Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Clin Radiol 2021 Apr 19;76(4):313.e15-313.e26. Epub 2021 Jan 19.

Department of Radiology, The University of Texas MD Anderson Cancer Center, 1515 Holocombe Blvd, Houston, TX 77030, USA. Electronic address:

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Read More

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