É uma doença genética que pode ser herdada de um dos pais e se manifesta mesmo com apenas uma cópia alterada do gene. Ela é causada por alterações prejudiciais no gene STK11 e se caracteriza por pólipos (pequenos crescimentos) de um tipo especial chamados hamartomas no sistema digestivo, manchas escuras na pele e nas mucosas, e um risco maior de desenvolver cânceres no sistema digestivo e em outras partes do corpo.
Introdução
O que você precisa saber de cara
É uma doença genética que pode ser herdada de um dos pais e se manifesta mesmo com apenas uma cópia alterada do gene. Ela é causada por alterações prejudiciais no gene STK11 e se caracteriza por pólipos (pequenos crescimentos) de um tipo especial chamados hamartomas no sistema digestivo, manchas escuras na pele e nas mucosas, e um risco maior de desenvolver cânceres no sistema digestivo e em outras partes do corpo.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK fam
NucleusCytoplasmMembraneMitochondrion
Peutz-Jeghers syndrome
An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer.
Medicamentos e terapias
Mecanismo: FK506-binding protein 1A inhibitor
Variantes genéticas (ClinVar)
2,542 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,362 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Peutz-Jeghers
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
22 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 691
Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of hamartomatous polyps throughout the gastrointestinal tract but primarily in the small bowel. Gastric outlet obstruction (GOO) due to PJS polyps is rare in childhood. The optimal treatment of large, gastric polyps in PJS remains unclear. We report herein the case of a 1-year-old, male patient who was treated endoscopically for GOO caused by a massive PJS polyp. The patient had a history of frequent non-bilious vomiting and melena. Gastrointestinal bleeding was suspected, prompting an abdominal ultrasound and a gastrointestinal series. The ultrasound revealed mucosal lesions in the stomach, and a contrast meal indicated a possible gastrointestinal obstruction. Endoscopy led to the diagnosis of gastric obstruction secondary to a massive PJS polyp. After carefully excluding malignancy, the polyp was excised via snare polypectomy. The present case demonstrated that gastric polyps in PJS can present with symptoms even at a young age and that abdominal ultrasound and gastrointestinal series are valuable tools for diagnosing GOO due to gastric polyps. While open surgery is typically considered for polyps causing GOO, endoscopic resection can be a safe and effective alternative.
Distinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.
Clinically, recurrent polyp growth is a characteristic feature of pediatric Peutz-Jeghers syndrome (PJS) patients. However, the clinical characteristics of pediatric PJS patients grouped by postoperative recurrence time remain undefined. Furthermore, differences in clinical features between serine/threonine kinase 11 (STK11)-positive and -negative patients, and the influence of STK11 mutation types on polyp recurrence time need to be elucidated. Our study aimed to characterize pediatric PJS based on postoperative polyp recurrence time and STK11 mutation status. We collected clinical data from 74 pediatric PJS patients diagnosed at Hunan Children's Hospital over the past decade. STK11 genomic profiling was performed using Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA) or whole exome sequencing (WES). Variables associated with gastrointestinal polyp recurrence were identified through least absolute shrinkage and selection operator (LASSO) regression, followed by multivariate logistic regression analysis of significant variables. All 74 pediatric PJS patients who experienced polyp recurrence post-polypectomy were stratified by recurrence time (>3, 1-3, and ≤1 year). Notably, 49.2% (31/63) of STK11-positive (STK11pos) patients recurred within ≤1 year after polypectomy, while 81.8% (9/11) of STK11-negative (STK11neg) patients with recurrence >3 years after polypectomy. LASSO and multivariate logistic regression identified multiple jejunal polyps (odds ratio [OR]: 4.18, 95% confidence interval [CI]: 1.09-15.98) and giant small bowel polyps (OR: 4.06, 95% CI: 1.15-14.34) as independent risk factors for recurrence ≤1 year after polypectomy. Compared to STK11neg patients, STK11pos patients, especially when combined with a positive PJS family history exhibited significantly earlier symptom onset, higher gastrointestinal giant polyp burden, and higher polyp burden in the jejunum/colon versus ileum. Analysis of 63 STK11pos patients revealed diverse mutation types/sites and identified 15 novel pathogenic variants. STK11pos patients with de novo mutations exhibited a significantly higher incidence of hematochezia, along with a greater overall burden of giant polyps in the colon. No significant association was found between major mutation subtypes (frameshift, missense, deletion, and nonsense) and recurrence time, though missense mutations showed a trend toward earlier recurrence. This study reveals distinct clinical profiles across polyp recurrence intervals and between STK11-positive and -negative patients, while delineating the STK11 mutation landscape in pediatric PJS. These findings provide the genomic resource for pediatric PJS, offering critical insights into disease mechanisms and clinical management.
Risk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.
Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by gastrointestinal polyps, mucocutaneous pigmentation, and increased malignancy risk. In pediatric patients, recurrent complications such as intussusception often result in frequent surgeries. This study aimed to identify clinical risk factors for small bowel polyp recurrence in children with PJS. We retrospectively analyzed 64 pediatric PJS patients who had at least two follow-up visits. Clinical data, including demographics, clinical features, and endoscopic findings, were collected. The primary outcome was recurrence of small bowel polyps, defined as polyps with a maximum diameter ≥ 15 mm. Kaplan-Meier survival curves and Cox proportional hazards models were used to assess risk factors. The cohort's median age was 8.0 years, with a male-to-female ratio of 1.78:1. The median time to recurrence of small bowel polyps was 36.4 months. The estimated recurrence rates at 12, 24, and 36 months were 19.8% (95% confidence interval [CI]: 9.0%-29.3%), 33.2% (95%CI: 18.9%-44.9%), and 46.2% (95%CI: 28.0%-59.7%), respectively. Patients with a higher number of polyps (≥10) and larger polyp size (≥2 cm in diameter) exhibited a more rapid recurrence. Multivariate Cox regression analysis identified that the number of small bowel polyps (≥10) (hazard ratio [HR] 5.61, 95%CI: 1.65-19.09) and polyp size (HR 1.20, 95%CI: 1.01-1.42) were significantly associated with an increased risk of recurrence. Greater polyp number (≥10) and larger polyp diameter are independent risk factors for recurrence. Early screening for polyps is essential, even in asymptomatic PJS patients.
Intestinal LKB1 Loss Drives a Premalignant Program Along the Serrated Cancer Pathway.
Heterozygous inactivating mutations of Serine Threonine Kinase 11/Liver Kinase B1 (LKB1) are causative to the Peutz-Jeghers syndrome (PJS), a hereditary disease characterized by gastrointestinal hamartomatous polyposis and increased cancer susceptibility. Although LKB1 loss-induced polyp formation has been ascribed to nonepithelial tissues, how LKB1 deficiency increases cancer risk of patients by altering the phenotypical landscape and hierarchical organization of epithelial tissues remains poorly understood. Using CRISPR/Cas9, we generated heterozygous and homozygous Lkb1-deficient mouse small intestinal and human colon organoids. These organoids were characterized by an integrated approach that combines imaging, bulk and single-cell RNA sequencing, and growth factor dependency assays. Our findings were validated in human PJS-derived tissues using immunohistochemistry and linked to colorectal cancer profiles using the Cancer Genome Atlas (TCGA) cancer database. Our results reveal that heterozygous Lkb1 loss is sufficient to push intestinal cells into a premalignant transcriptional program associated with serrated colorectal cancer, which is further amplified by loss of heterozygosity. This altered epithelial growth state associates with persistent features of regeneration and enhanced EGFR ligand and receptor expression, conferring niche-independent growth properties to Lkb1-deficient organoids. Moreover, our newly generated LKB1-mutant signature is enriched in sporadic serrated colorectal cancer, and synergistic cooperation of Lkb1 deficiency with mutant Kras was experimentally confirmed by assessing organoid growth properties and transcriptomes. Heterozygous loss of LKB1 pushes intestinal cells into a chronic regenerative state, which is amplified on loss of heterozygosity. Lkb1 deficiency thereby generates fertile ground for serrated colorectal cancer formation in the intestine, potentially explaining the increased cancer risk observed in PJS.
Clinical features and endoscopic polyp management of Peutz-Jeghers syndrome: the 2nd nationwide epidemiological survey in Japan.
Peutz-Jeghers syndrome (PJS), a rare genetic disorder characterized by hamartomatous gastrointestinal polyps, poses increased risks of various cancers. Despite the importance of early intervention, the optimal timing for jejunal-ileal polypectomy remains unclear owing to the limited number of comparative studies. Herein, we conducted a nationwide survey in Japan and analyzed data from 184 patients with PJS identified through a two-stage sampling process. The initial screening of 2912 medical institutions yielded 1748 facilities, of which 1077 responded to the survey. Time-dependent Cox proportional hazards models and logistic regression analyses were used to examine the association between the timing of jejunal-ileal polypectomy and the risk of surgery for intussusception. Among 184 patients (47.0% women; mean age, 33.5 years), intussusception was the most common complication (67.7%). In the Cox proportional hazards analysis excluding surgeries within 1 year of diagnosis, early jejunal-ileal polypectomy was associated with a reduced risk of surgery for intussusception (adjusted hazard ratio, 0.17; 95% confidence interval [CI] 0.04-0.74, p = 0.018). Logistic regression analysis showed higher odds of surgery in the late treatment group compared with the early treatment group (adjusted odds ratio, 4.26; 95% CI 1.38-13.16, p = 0.012). Early jejunal-ileal polypectomy may reduce the risk of intussusception in patients with PJS. However, the need for frequent endoscopic procedures must be balanced considering patient burden. These findings support the importance of early intervention and highlight the need for optimized surveillance strategies that consider clinical effectiveness and patients' quality of life.
Publicações recentes
Severe Iron Deficiency Anemia in a Jehovah's Witness diagnosed with Peutz-Jeghers Syndrome.
"A Wolf in Sheep's Clothing"-STK11 Adnexal Tumor, a Recently Described Rare, Aggressive Entity Misdiagnosed as Female Adnexal Tumor of Probable Wolffian Origin (FATWO).
Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation.
STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.
Familial pediatric Peutz-Jeghers syndrome with recurrent intussusception: case report and literature review.
📚 EuropePMC1.359 artigos no totalmostrando 196
Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
Clinical journal of gastroenterologyBibliometric analysis of research progress in pediatric intussusception from the Web of Science Core Collection over the past 15 years.
MedicineDistinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.
Journal of pediatric gastroenterology and nutritionClinical and sonographic characteristics of adnexal STK11 tumor: newly recognized tumor associated with Peutz-Jeghers syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPicosecond 755-nm alexandrite laser for labial lentigines in Peutz-Jeghers syndrome: A procedural case report.
JAAD case reportsNeurofibromatosis type 1 with concomitant Peutz-Jeghers syndrome in a child: a case report.
BMC pediatricsIschemic polypectomy for small-bowel polyps in pediatric Peutz-Jeghers syndrome.
VideoGIE : an official video journal of the American Society for Gastrointestinal EndoscopyMental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.
Familial cancerAcquired Oral Hyperpigmentation: A Benign Finding or a Malignant Clue?
CureusAcute pancreatitis associated with periampullary hamartomatous polyp in Peutz-Jeghers syndrome.
Revista espanola de enfermedades digestivasRisk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.
Journal of pediatric gastroenterology and nutritionEarly Detection of Ductal Carcinoma in situ through Surveillance in a Patient with Peutz-Jeghers Syndrome: A Case Report.
Case reports in oncologyImaging and Histologic Clues to STK11-Negative Peutz-Jeghers Syndrome: Image of the Month.
Digestive diseases and sciencesA novel effect of bevacizumab in reducing characteristic pigmentation in Peutz-Jeghers syndrome: a case report and literature review.
Frontiers in oncologyGenetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
Archives of gynecology and obstetricsOvarian Sex Cord Stromal Tumor With Annular Tubules: A Rare Diagnosis in Young Women.
Clinical case reportsDifferential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.
Scientific reportsPeutz-Jeghers Syndrome With Malignant Transformation in a Hamartomatous Rectal Polyp: A Case Report.
CureusAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases researchPrimary High-Grade Ovarian Sertoli-Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz-Jeghers Syndrome.
Case reports in oncological medicineCobblestone appearance of oral mucosa: A diagnostic conundrum.
SAGE open medical case reportsA Case of Peutz-Jeghers Syndrome Complicated With Hirschsprung Disease.
CureusDisturbance of Consciousness After Double-Balloon Enteroscopy in a Patient With Peutz-Jeghers Syndrome.
GastroenterologyThe Role of Video Capsule Endoscopy in Hereditary Polyposis Syndromes: A Narrative Review.
Diagnostics (Basel, Switzerland)The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Hereditary cancer in clinical practiceIntussusception secondary to Peutz-Jeghers syndrome: a case report and literature review of diagnostic and therapeutic advances.
Frontiers in medicineRecurrent gastric solitary Peutz-Jeghers polyp after endoscopic treatment: A case report and literature review.
MedicineDouble balloon enteroscopy in pediatrics: Evaluation of midgut pathologies at a national medical center.
Revista de gastroenterologia de Mexico (English)Intestinal LKB1 Loss Drives a Premalignant Program Along the Serrated Cancer Pathway.
GastroenterologyClinical features and endoscopic polyp management of Peutz-Jeghers syndrome: the 2nd nationwide epidemiological survey in Japan.
Journal of gastroenterologyDiagnosis and treatment strategies for hereditary pancreatic cancer syndrome.
International journal of clinical oncologyLoss of expression of STK11/LKB1 in intratubular large cell hyalinizing Sertoli cell neoplasm.
HistopathologyReclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.
Familial cancerAn unusual path to diagnosis: Sertoli cell neoplasia revealing Peutz-Jeghers syndrome in an 8-year-old boy.
Urology case reportsInnovative Approach to Pediatric Peutz-Jeghers Syndrome: Simultaneously Performing Laparoscopic Reduction of Polyp-Induced Intussusception and Polypectomy with Double-Balloon Endoscopy.
Surgical case reportsEndoscopic management of extensive ileocolic intussusception in Peutz-Jeghers syndrome is able to avoid surgery.
EndoscopyPeutz-Jeghers syndrome in gynecological cancers: bibliometric trends, clinical insights, and future directions.
Gynecologic oncology reportsOvarian Sex Cord Tumor With Annular Tubules (SCTAT) Harbor Recurrent Copy Number Alterations, Including Monosomy 22.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncSynchronous mucinous metaplasia and neoplasia of the ovarium and fallopian tube with STK11 and KRAS mutations: a case report.
Virchows Archiv : an international journal of pathologyGenetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
Human mutationLaparotomy and endoscopy cooperative resection in the treatment of Peutz-Jeghers syndrome.
EndoscopyClarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11.
Molecular cytogeneticsPediatric endoscopic mucosal resection: A 10-year single-center experience.
Journal of pediatric gastroenterology and nutritionA case of multiple small bowel intussusceptions revealing a PEUTZ-JEGHERS syndrome.
Radiology case reportsComprehensively Testing the Function of Missense Variation in the STK11 Tumour Suppressor.
bioRxiv : the preprint server for biologyPeutz-Jeghers syndrome presenting with jejunoileal intussusception in a pediatric patient: A rare case report, in a developing country, Gondar, Ethiopia.
International journal of surgery case reportsDiagnosis of Peutz-Jeghers syndrome with pulmonary chondromatous hamartoma in a 21-year-old man: a case report.
Gastroenterology reportGastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.
Familial cancerCo-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report.
BMC nephrologySkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesClinicopathologic characteristics and outcome of gastric-type endocervical adenocarcinoma: a single-center retrospective study.
International journal of clinical and experimental pathologyAggressive Colorectal Signet Ring Cell Carcinoma Arising in Peutz-Jeghers Syndrome: A Rare Case of Missed Surveillance with Successful Multimodal Therapy.
European journal of case reports in internal medicine[Advance in genetics research on Gastrointestinal polyposis syndromes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPeutz-Jeghers syndrome as a sign of prostate cancer progression.
Polish archives of internal medicineCurrent Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.
Cancer prevention research (Philadelphia, Pa.)Utility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.
Journal of gastrointestinal and liver diseases : JGLDGenetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS oneTruncated LKB1 nonenzymatically enhances Fas-induced apoptosis by acting as a surrogate of Smac.
Cell death discoveryIL-17 links the tumor suppressor LKB1 to gastrointestinal inflammation and polyposis.
Science advancesNatural surgical risks and age distribution in Chinese patients with Peutz-Jeghers syndrome: Real-world research based on a web survey.
World journal of gastrointestinal surgeryNovel ultrasound features and diagnostic clues of gastric-type endocervical adenocarcinoma: a case series.
Frontiers in oncologyCancer Predisposition Syndromes Associated with Most Common Pediatric Solid Tumors.
Surgical pathology clinicsPeutz-Jeghers Syndrome in a Young Ethiopian Male: A Case Report.
Case reports in gastrointestinal medicineScreening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.
Virchows Archiv : an international journal of pathologyThe clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey.
Familial cancerHereditary Colorectal Cancer: From Diagnosis to Surgical Options.
Clinics in colon and rectal surgeryA Systematic Review of Cost-Effectiveness Studies on Pancreatic Cancer Screening.
Current oncology (Toronto, Ont.)STK11 adnexal tumor: A newly recognized entity that expands the spectrum of neoplasms associated with Peutz-Jeghers syndrome.
Gynecologic oncologyCan a black pigmented lesion of the oral cavity predict future development of melanoma- Report of a case and review of literature.
Journal of family medicine and primary careOne hundred years of the St Mark's hospital polyposis registry.
Familial cancerHereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.
Diagnostics (Basel, Switzerland)Laparoscopic-assisted Polypectomy: A Promising Minimally-invasive Solution for Endoscopically Irresectable Polyps in Children.
Journal of pediatric surgeryBRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature.
Cancer reports (Hoboken, N.J.)Rare large sigmoid hamartomatous polyp in an elderly patient with atypical Peutz-Jeghers syndrome: A case report.
World journal of gastrointestinal surgeryPeutz-Jeghers syndrome revealed by CT finding of acute small bowel intussusception: A case report.
Radiology case reportsMultiplex immunohistochemistry reveals histological features of three different intestinal polyp subtypes in pediatric patients.
BMC pediatricsSerine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impact.
Human genomicsInterleukin-11 expressed in the polyp-enriched fibroblast subset is a potential therapeutic target in Peutz-Jeghers syndrome.
The Journal of pathologyPeutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp.
Cureus[Prophylactic hysterectomy (Lynch syndrome, BRCA and others)].
Bulletin du cancerLong-Term Outcomes of Double-Balloon Enteroscopy Polypectomy for Large Small Bowel Polyps Detected During Surveillance Imaging in Patients With Peutz-Jeghers Syndrome.
Journal of digestive diseasesGastric-type endocervical adenocarcinoma, superficial myofibroblastoma, sex cord-stromal tumors, and HSIL in Peutz-Jeghers syndrome: a rare case report, genetic characterization, and review of literature.
Frontiers in oncologyPrognostic Significance of STK11/LKB1 Expression and Its Role in the Tumor Microenvironment of Colorectal Adenocarcinoma.
In vivo (Athens, Greece)[Proctocolectomy for familial adenomatous polyposis and other polyposis].
Bulletin du cancerSex cord tumor with annular tubules: A rare ovarian neoplasm associated with Peutz-Jeghers syndrome.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyA CRISPR-edited isoform of the AMPK kinase LKB1 improves the response to cisplatin in A549 lung cancer cells.
The Journal of biological chemistry[Sex cord tumor with annular tubules].
Arkhiv patologiiLobular endocervical glandular hyperplasia diagnosed during surveillance for Peutz-Jeghers Syndrome: A case report.
Gynecologic oncology reportsBalloon-assisted enteroscopy in the management of adult small-bowel intussusception: a comparative analysis of with and without double-balloon enteroscopy.
Surgical endoscopyPancreatic Cancer: Screening and Early Detection.
Gastroenterology clinics of North America[Parafallopian tube STK11 adnexal tumor with ovarian sex cord tumour with annular tubules: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyPseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome.
BMJ case reportsDistribution Characteristics in Clinical Phenotype and Immunohistochemistry of STK11 Adnexal Tumors: Case Report and Narrative Synthesis.
International journal of surgical pathologyGenetic predisposition to polyposis syndromes.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoPeutz-Jeghers syndrome - Be in need of vigilance: A case report.
Journal of family medicine and primary careManagement of pediatric Peutz-Jeghers syndrome: Highlighting the efficacy and safety of endoscopic ischemic polypectomy.
Journal of pediatric gastroenterology and nutritionInsights into targeting LKB1 in tumorigenesis.
Genes & diseasesGenetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology.
Journal of the National Comprehensive Cancer Network : JNCCNEndoscopic innovations in diagnosis and management of pancreatic cancer: a narrative review and future directions.
Therapeutic advances in gastroenterologyA giant solitary Peutz-Jeghers-type polyp in the gastric body.
Revista espanola de enfermedades digestivasPeutz-Jeghers syndrome in women with jejunojejunal intussusception and multiple gastrointestinal polyposis: A case report.
International journal of surgery case reportsPrevalence and Incidence of Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022.
Journal of gastroenterology and hepatologyGeneration of the TSHSUi002-A induced pluripotent stem cell line from a patient with Peutz-Jeghers syndrome carring STK11 gene mutation.
Stem cell researchAGA Clinical Practice Update on Nonampullary Duodenal Lesions: Expert Review.
GastroenterologyThe role of STK11/LKB1 in cancer biology: implications for ovarian tumorigenesis and progression.
Frontiers in cell and developmental biologySolitary Peutz-Jeghers polyp harboring a focus of high-grade dysplasia in the colon: a case report and literature review.
Clinical journal of gastroenterology[Current research status of Peutz-Jeghers syndrome in children].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsAcro-facial lentigines in Peutz-Jeghers syndrome.
BMJ case reportsMalignant STK11 adnexal tumor harboring a somatic mutation in a woman previously diagnosed with mesothelioma, a case report.
Gynecologic oncology reportsMRI grading for informed clinical decision-making in Peutz-Jeghers syndrome patients with cervical lesions.
Scientific reportsA qualitative research on reproductive concerns of the patients with Peutz-Jeghers syndrome.
Journal of psychosomatic obstetrics and gynaecologySTK11 Adnexal Tumor: Exploring the Association With Peutz-Jeghers Syndrome and its Distinction From Morphologic Mimickers.
Advances in anatomic pathologyA Case Report of a Young Adult With Peutz-Jeghers Syndrome Presenting With Acute Small Bowel Obstruction: A Common Complication of an Uncommon Disease.
CureusGlobal research landscape of Peutz-Jeghers syndrome and successful endoscopic management of intestinal intussusception in patients with recurrent laparotomies.
World journal of gastrointestinal surgeryPediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.
Clinical cancer research : an official journal of the American Association for Cancer ResearchImmune profiling of premalignant lesions in patients with Peutz-Jeghers syndrome.
United European gastroenterology journalSTK11 (LKB1) immunohistochemistry is a sensitive and specific marker for STK11 adnexal tumours.
HistopathologyIntestinal occlusion revealing Peutz Jeghers syndrome: A rare case report.
International journal of surgery case reportsClinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.
The Turkish journal of gastroenterology : the official journal of Turkish Society of GastroenterologyA Solitary Peutz-Jeghers Hamartomatous Polyp in the Gastric Body: A Case Report.
CureusEpithelial misplacement in Peutz-Jeghers polyps-the efficacy of the distribution of immunohistochemical markers in its diagnosis.
HistopathologyPeutz-Jeghers syndrome: A case series.
International journal of surgery case reportsGenetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz-Jeghers syndrome.
World journal of surgical oncology[Clinicopathological features and prognostic analysis of synchronous mucinous metaplasia and neoplasia of the female genital tract].
Zhonghua zhong liu za zhi [Chinese journal of oncology]Conservative management of gynecomastia in Peutz-Jeghers syndrome: Case series and review of the literature.
Pediatric blood & cancerIleo-ileal intussusception secondary to a Peutz-Jeghers hamartomatous polyp in an infant.
BMJ case reportsEndoscopic ischemic polypectomy using a large endoclip for Peutz-Jeghers polyps.
EndoscopyEvaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Research squareDual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.
World journal of gastrointestinal oncologyWhen synchronous mucinous metaplasia and neoplasia of the female genital tract and peutz-jeghers syndrome meet: a case report and literature reviews.
BMC women's healthLKB1 biology: assessing the therapeutic relevancy of LKB1 inhibitors.
Cell communication and signaling : CCSPeutz-Jeghers syndrome: management for recurrent intussusceptions.
Pediatric surgery internationalSomatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.
Familial cancerUncommon manifestation of Peutz-Jeghers syndrome: a case of jejuno-jejunal intussusception and volvulus leading to small bowel obstruction.
Journal of surgical case reportsPeutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches.
CureusA case report and literature review of Peutz-Jeghers syndrome complicating by acute small-bowel intussusception.
Asian journal of surgeryMucosal prolapse syndrome mimicking Peutz-Jeghers syndrome in a pediatric patient.
JPGN reportsCould Capsule Endoscopy Be Useful in Detection of Suspected Small Bowel Bleeding and IBD-10 Years of Single Center Experience.
Diagnostics (Basel, Switzerland)Adenoma mimicking intraductal papillary neoplasm of the bile duct arising in an intrahepatic biliary duplication cyst.
BJR case reportsFacial Features of Hereditary Cancer Predisposition.
JCO oncology practiceAltered mucosal bacteria and metabolomics in patients with Peutz-Jeghers syndrome.
Gut pathogensSurgical aspects related to hereditary pancreatic cancer.
Familial cancerTwo missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome.
World journal of gastrointestinal oncologyDiagnostic Conundrum of a Sertoli Cell Tumor in a 2-Year-Old Girl with Peripheral Precocious Puberty and a Café-au-Lait Macule: A Case Report.
Hormone research in paediatricsFamilial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review.
Virchows Archiv : an international journal of pathologyImaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond.
Abdominal radiology (New York)Contrast-enhanced ultrasound of polyp malignant transformation with multiple metastases in a patient with Peutz-Jeghers syndrome.
Journal of clinical ultrasound : JCU[Early Duodenal Cancer Resected by Using Laparoscopic and Endoscopic Assistance Surgery in a Patient with Peutz-Jeghers Syndrome].
Gan to kagaku ryoho. Cancer & chemotherapyProgress report: Peutz-Jeghers syndrome.
Familial cancerGastric-type glandular lesions of the female genital tract excluding the cervix: emerging pathological entities.
HistopathologyPoorly differentiated adenocarcinoma of the jejunum in a patient with Peutz-Jeghers syndrome: A case report.
International journal of surgery case reportsPeutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report.
Journal of medical case reportsHow to do a laparoscopic-assisted endoscopic 'clean sweep' for small bowel polyp clearance in Peutz Jeghers syndrome.
ANZ journal of surgeryPreoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review.
Hereditary cancer in clinical practiceCellular and molecular characteristics of stromal Lkb1 deficiency-induced gastrointestinal polyposis based on single-cell RNA sequencing.
The Journal of pathologyExploring the histogenesis of STK11 adnexal tumour using electron microscopy.
Virchows Archiv : an international journal of pathologyIschemic Polypectomy Through Detachable Snare and Rubber Band Ligation in Peutz-Jeghers Syndrome.
ACG case reports journalMultiple intussusceptions secondary to Peutz-Jegher's syndrome in an adult male: a case report from Pakistan.
Journal of surgical case reportsDevice-assisted enteroscopy and the need for surgery in Peutz-Jeghers syndrome: the long and winding road.
Endoscopy international openDevice-assisted enteroscopy in the surveillance of intestinal hamartomas in Peutz-Jeghers syndrome.
Endoscopy international openSingle-cell landscape of the cellular microenvironment in three different colonic polyp subtypes in children.
Clinical and translational medicineA 15-year-old male with Peutz-Jeghers syndrome: a rare case report from Syria.
Annals of medicine and surgery (2012)Peutz Jeghers syndrome accompanied with cervical gastric adenocarcinoma and extensive metastasis: a case report.
International journal of clinical and experimental pathologyGentle Giant? Giant Gastric Solitary Peutz-Jeghers Polyp.
Digestive diseases and sciencesAdvancements in endoscopic management of small-bowel polyps in Peutz-Jeghers syndrome and familial adenomatous polyposis.
Therapeutic advances in gastroenterologyA Case Report and Literature Review of a Rare Jejunal Solitary Peutz-Jeghers-Type Polyp Resected Endoscopically in an Elderly Patient Presenting with Subacute Gastrointestinal Bleeding.
Case reports in gastrointestinal medicineRelevance of Molecular Pathology for the Diagnosis of Sex Cord-Stromal Tumors of the Ovary: A Narrative Review.
CancersRepeat bidirectional double-balloon enteroscopy 1 year later may be proper in Peutz-Jeghers patients with difficult-to-reach polyps.
Endoscopy international openAcral Pigmentation in Peutz-Jeghers Syndrome: Dermoscopic Findings and Treatment with the Q-Switched Nd:YAG Laser.
Annals of dermatologyChanges of gut microbiota and short chain fatty acids in patients with Peutz-Jeghers syndrome.
BMC microbiologyEndoscopic Treatment of Colo-Colonic Intussusception in a Patient with Peutz-Jeghers Syndrome.
Case reports in gastroenterologySmall Intestinal Polyp Burden in Pediatric Peutz-Jeghers Syndrome Assessed through Capsule Endoscopy: A Longitudinal Study.
Children (Basel, Switzerland)[A man with brown discolorations].
Nederlands tijdschrift voor geneeskundeA rare type of polyp in the duodenum.
Clinical case reportsCancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center.
Clinics in colon and rectal surgeryClinicopathologic comparison between sporadic and syndromic Peutz-Jeghers polyps.
Human pathologyA novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.
Gastroenterology and hepatology from bed to bench[Prepubertal gynecomastia at the debut of hereditary tumors predisposition syndrome (clinical case reports)].
Problemy endokrinologiiGastrointestinal: Peutz-Jeghers syndrome with a novel frameshift mutation in STK 11 gene observed by magnifying narrowband imaging endoscopy.
Journal of gastroenterology and hepatology[Management of the Peutz-Jeghers Syndrome].
Zentralblatt fur ChirurgieRisk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls.
GastroenterologyUpdates in the diagnosis and management of non-ampullary small-bowel polyposis.
Best practice & research. Clinical gastroenterology[Enteritis cystica profunda].
Annales de pathologieCHRONIC ANEMIA CAUSED BY GIANT AND SOLITARY PEUTZ-JEGHERS HAMARTOMATOUS POLYP TREATED BY ENDOSCOPIC RESECTION.
Arquivos de gastroenterologiaSurgical polypectomy for small bowel hamartomas in Peutz-Jegher syndrome.
ANZ journal of surgeryFamilial intestinal polyposis and device assisted enteroscopy: where do we stand?
Expert review of gastroenterology & hepatologyComplications, treatment, and follow-up of peutz-jeghers syndrome: About 2 case reports.
International journal of surgery case reportsDelayed perforation after endoscopic resection of a Peutz-Jeghers-type polyp arising from an inverted appendix.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietyLKB1 loss promotes colorectal cancer cell metastasis through regulating TNIK expression and actin cytoskeleton remodeling.
Molecular carcinogenesisGeneration of an iPSC line (TSHSUi001-A) from a patient with Peutz-Jeghers syndrome due to STK11 mutation.
Stem cell researchSmall Bowel Intussusception due to Solitary Peutz-Jeghers Jejunal Polyp: A Rare Entity.
Journal of Indian Association of Pediatric SurgeonsPeutz-Jeghers Syndrome: Lessons to be Learned in the Clinical Diagnosis.
Journal of Indian Association of Pediatric SurgeonsPeutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.
World journal of gastroenterologySTK11 Adnexal Tumor in an Adolescent Female: Diagnostic Pitfalls of a Recently Described Entity.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyGel immersion endoscopic mucosal resection for intussuscepted small bowel polyp in a patient with Peutz-Jeghers syndrome.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietyIdentification of a novel mitochondria-localized LKB1 variant required for the regulation of the oxidative stress response.
The Journal of biological chemistryAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Gastric outlet obstruction secondary to Peutz-Jeghers syndrome successfully managed by polypectomy.
- Distinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.
- Risk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.
- Intestinal LKB1 Loss Drives a Premalignant Program Along the Serrated Cancer Pathway.
- Clinical features and endoscopic polyp management of Peutz-Jeghers syndrome: the 2nd nationwide epidemiological survey in Japan.
- Severe Iron Deficiency Anemia in a Jehovah's Witness diagnosed with Peutz-Jeghers Syndrome.
- "A Wolf in Sheep's Clothing"-STK11 Adnexal Tumor, a Recently Described Rare, Aggressive Entity Misdiagnosed as Female Adnexal Tumor of Probable Wolffian Origin (FATWO).
- Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation.
- STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.
- Familial pediatric Peutz-Jeghers syndrome with recurrent intussusception: case report and literature review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2869(Orphanet)
- OMIM OMIM:175200(OMIM)
- MONDO:0008280(MONDO)
- GARD:7378(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1544989(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
