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Peutz Jeghers

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https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#1
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28584905/clinical-characteristics-of-intussusception-secondary-to-pathologic-lead-points-in-children-a-single-center-experience-with-65-cases
#2
Xiao-Kun Lin, Qiong-Zhang Xia, Xiao-Zhong Huang, Yi-Jiang Han, Guo-Rong He, Na Zheng
OBJECTIVE: Intussusception secondary to pathologic lead points (PLPs) is a challenging condition for pediatric surgeons, and few studies have been published on this subject. The aim of this study was to review and analyze clinical data on the diagnosis and management of intussusception secondary to PLPs in children. METHODS: Between 2002 and 2016, a total of 65 pediatric patients with a diagnosis of intussusception secondary to PLPs were retrospectively reviewed...
June 5, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28561672/pancreatic-adenocarcinoma-improving-prevention-and-survivorship
#3
Davendra P S Sohal, Field F Willingham, Massimo Falconi, Kara L Raphael, Stefano Crippa
Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multiple mole and melanoma (FAMMM) syndrome, hereditary breast and ovarian cancer, Lynch syndrome, and Peutz-Jeghers syndrome...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28560011/peutz-jeghers-syndrome-with-early-onset-of-pre-adolescent-gynecomastia-a-predigree-case-report-and-clinical-and-molecular-genetic-analysis
#4
Long-Jiang Zhang, Zhe Su, Xia Liu, Li Wang, Qin Zhang
This study reports a case of Peutz-Jeghers syndrome with early onset of gynecomastia, and discusses its clinical characteristics and genetic changes in a family. The clinical characteristics of a child diagnosed with Peutz-Jeghers syndrome in our hospital and his parents were summarized, and related genes were detected in the child and his parents. Furthermore, the therapeutic effect of letrozole was also observed. A five-year-and-three-month-old male patient visited a doctor due to "progressive painless enlargements at bilateral breast for more than two years"...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28551172/benign-large-cell-calcifying-sertoli-tumor-of-the-testis-in-a-13-year-old-male-treated-with-partial-orchiectomy
#5
Anthony J Tracey, Wolfgang H Cerwinka
Large cell calcifying Sertoli cell tumors of the testis (LCCSCT) is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney's complex (40% of tumors). The remaining 60% of tumors are sporadic.A 13 year old male underwent a left partial orchiectomy. Intra-op frozen section was used. Pathology revealed a benign large cell calcifying sertoli cell tumor with negative margins. To our knowledge there is not a case in the literature of a LCCSCT being treated with partial orchiectomy in a pubertal male with a normal contralateral testis...
May 24, 2017: Urology
https://www.readbyqxmd.com/read/28500412/-hereditary-breast-and-ovarian-cancer
#6
REVIEW
S F Lax
Hereditary breast and ovarian carcinomas are frequently caused by germline mutations of the BRCA1 and BRCA2 genes (BRCA1/2 syndromes) and are often less associated with other hereditary syndromes such as Li-Fraumeni and Peutz-Jeghers. The BRCA1/2 proteins have a special role in DNA repair. Therefore, loss of function due to mutation causes an accumulation of mutations in other genes and subsequent tumorigenesis at an early age. BRCA1/2 mutations are irregularly distributed over the length of the genes without hot spots, although special mutations are known...
May 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28489743/narrow-band-imaging-endoscopy-is-advantageous-over-conventional-white-light-endoscopy-for-the-diagnosis-and-treatment-of-children-with-peutz-jeghers-syndrome
#7
Weiwei Cheng, Haifeng Liu, Zhujun Gu, Zhihong Hu, Ling Wang, Xing Wang
Using narrow-band imaging (NBI), the micro morphology of polyp surfaces was visualized at high resolution when the contrast between the lesions and the surrounding tissue areas was intensified. The objective of the study was to compare NBI and conventional white light endoscopy (C-WLI) for diagnostic efficacy and treatment of children with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant-genetic disease.We retrospectively analyzed the clinical data of 18 patients diagnosed with PJS and 72 diagnosed with juvenile polyps during the same time period...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28487883/genetic-and-epigenetic-profiling-of-a-solitary-peutz-jeghers-colon-polyp
#8
Heinz Linhart, Felix Bormann, Barbara Hutter, Benedikt Brors, Frank Lyko
Colon polyps represent precursor lesions of colon cancers and their malignant potential varies according to histological subtype. A rare subtype of colon polyps is the Peutz-Jeghers (PJ) polyp. PJ polyps mostly occur in the context of Peutz-Jeghers syndrome, which is characterized by the development of multiple polyps in the intestinal tract and hyperpigmentation of oral mucosa and lips. Peutz-Jeghers is an autosomal dominant disorder caused by pathogenic variants of the serine threonine kinase STK11. PJ polyps very rarely occur outside of the syndrome and are then referred to as solitary PJ polyps...
May 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#9
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#10
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469042/systemic-treatment-strategies-for-patients-with-hereditary-breast-cancer-syndromes
#11
Amanda Parkes, Banu K Arun, Jennifer K Litton
Hereditary breast cancer syndromes are associated with an increased risk of breast cancer and constitute a unique patient population, making up approximately 5%-10% of breast cancer cases in the United States. By virtue of the germline mutations that define these syndromes, invasive breast cancers in these patients have unique mechanisms that can be rationally targeted for therapeutic opportunities distinct from standard of care treatments in nongermline mutation associated breast cancers. This review intends to describe existing data on several of the most common hereditary breast cancer syndromes, including BRCA-related breast cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer syndrome, specifically focusing on rational therapeutics utilized in these distinct patient subgroups and completed or ongoing clinical trials evaluating their efficacy...
May 3, 2017: Oncologist
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#12
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28445255/peutz-jeghers-syndrome-with-intermittent-upper-intestinal-obstruction-a-case-report-and-review-of-the-literature
#13
REVIEW
Shou-Xing Duan, Guang-Huan Wang, Jun Zhong, Wen-Hui Ou, Ma-Xian Fu, Fu-Sheng Wang, Shu-Hua Ma, Jian-Hong Li
RATIONALE: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum. PATIENT CONCERN: A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28391433/a-peutz-jeghers-syndrome-family-associated-with-sinonasal-adenocarcinoma-28-years-follow-up-report
#14
Jy-Ming Chiang, Tse-Ching Chen
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation...
April 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28352323/correlation-between-genotype-and-phenotype-in-three-families-with-peutz-jeghers-syndrome
#15
Yanli Zhang, Yao Ke, Xueni Zheng, Qing Liu, Xiaohong Duan
Peutz-Jeghers syndrome (PJS) is a hereditary disorder characterized by mucocutaneous pigmentations, gastrointestinal (GI) polyposis and an increased risk of certain malignancies. Little is known about the causative genes of PJS, or their association with the clinical phenotypes of PJS. The present study reports the results of clinical and genetic analysis of three Chinese families with PJS. In addition, the medical histories and clinical manifestations of these families were compared. DNA was collected from the blood samples of patients with PJS and controls...
February 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28346429/deletion-of-endothelial-cell-specific-liver-kinase-b1-increases-angiogenesis-and-tumor-growth-via-vascular-endothelial-growth-factor
#16
W Zhang, Y Ding, C Zhang, Q Lu, Z Liu, K Coughlan, I Okon, M-H Zou
Liver kinase B1 (LKB1) is a serine/threonine protein kinase ubiquitously expressed in mammalian cells. It was first identified in Peutz-Jeghers syndrome as a tumor suppressor gene. Whether endothelial LKB1 regulates angiogenesis and tumor growth is unknown. In this study, we generated endothelial cell-specific LKB1-knockout (LKB1(endo-/-)) mice by crossbreeding vascular endothelial-cadherin-Cre mice with LKB1(flox/flox) mice. Vascular endothelial growth factor (VEGF) level was highly co-stained in endothelial cells but not in macrophages in LKB1(endo-/-) mice...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28321345/a-patency-capsule-remained-intact-in-the-colon-over-210-hours
#17
Yu Hihara, Satoru Joshita, Toshiharu Takahashi, Shinji Okaniwa, Yoshiki Mizukami, Yoshiyuki Nakamura
We present an unusual case of a 35-year-old male patient whom a patency capsule stayed in his gut without breaking. He has a history of Peutz-Jeghers syndrome and multiple abdominal surgeries. Prestudy was performed for abdominal searching, but a patency capsule remained in the colon over 9 days. He displayed neither abdominal nor obstructive symptoms in that period. We collected the patency capsule using colonoscopy after dilating a postoperative stricture at an anastomotic site of the rectum. Clinicians should bear in mind that patency capsules may become retained as distally as the colon in patients with a surgical history of the large intestine...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28319601/effectiveness-of-double-balloon-enteroscopy-facilitated-polypectomy-in-paediatric-patients-with-peutz-jeghers-syndrome
#18
Dalia Belsha, Arun Urs, Thomas Attard, Mike Thomson
BACKGROUND: Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative-enteroscopy (IOE). This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. METHODS: Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center...
March 17, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28314199/unusual-ultrasound-appearance-of-small-bowel-intussusception-and-secondary-bowel-obstruction-in-a-child-with-peutz-jeghers-syndrome
#19
Lei Wu, Ramesh S Iyer, George T Drugas, A Luana Stanescu
Small bowel intussusception (SBI) in pediatric patients resolves spontaneously in the majority of cases. Pathologic small bowel intussusception with a lead point is rare in children. Ultrasound (US) is the preferred initial imaging study for the diagnosis of intussusception. We report a case of long-segment SBI and secondary bowel obstruction caused by a large hamartomatous polyp. This case emphasizes unique, atypical ultrasound findings that may be encountered in small bowel intussusception, with correlative radiographic, CT (computed tomography) and intra-operative findings...
May 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28246467/familial-pancreatic-cancer-concept-management-and-issues
#20
REVIEW
Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Hiroyuki Maguchi, Masamichi Mizuma, Hideaki Takahashi, Keita Wada, Hiroko Hosoi, Shinichi Yachida, Masami Suzuki, Risa Usui, Toru Furukawa, Junji Furuse, Takamitsu Sato, Makoto Ueno, Yoshimi Kiyozumi, Susumu Hijioka, Nobumasa Mizuno, Takeshi Terashima, Masaki Mizumoto, Yuzo Kodama, Masako Torishima, Takahisa Kawaguchi, Reiko Ashida, Masayuki Kitano, Keiji Hanada, Masayuki Furukawa, Ken Kawabe, Yoshiyuki Majima, Toru Shimosegawa
Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest...
February 14, 2017: World Journal of Gastroenterology: WJG
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