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Gut Jul 2010Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and...
Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.
Topics: Adult; Aged; Breast Neoplasms; Child; Child, Preschool; Endoscopy, Gastrointestinal; Evidence-Based Medicine; Female; Gastrointestinal Neoplasms; Genital Neoplasms, Female; Genotype; Humans; Long-Term Care; Male; Mass Screening; Middle Aged; Peutz-Jeghers Syndrome; Phenotype; Population Surveillance; Young Adult
PubMed: 20581245
DOI: 10.1136/gut.2009.198499 -
The American Journal of Gastroenterology Jun 2010Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with increased cancer risk. Surveillance and patient management are, however,... (Review)
Review
OBJECTIVES
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with increased cancer risk. Surveillance and patient management are, however, hampered by a wide range in cancer risk estimates. We therefore performed a systematic review to assess cancer risks in PJS patients and used these data to develop a surveillance recommendation.
METHODS
A systematic PubMed search was performed up to February 2009, and all original articles dealing with PJS patients with confirmed cancer diagnoses were included. Data involving cancer frequencies, mean ages at cancer diagnosis, relative risks (RRs), and cumulative risks were collected.
RESULTS
Twenty-one original articles, 20 cohort studies, and one meta-analysis fulfilled the inclusion criteria. The cohort studies showed some overlap in the patient population and included a total of 1,644 patients; 349 of them developed 384 malignancies at an average age of 42 years. The most common malignancy was colorectal cancer, followed by breast, small bowel, gastric, and pancreatic cancers. The reported lifetime risk for any cancer varied between 37 and 93%, with RRs ranging from 9.9 to 18 in comparison with the general population. Age-related cumulative risks were given for any cancer and gastrointestinal, gynecological, colorectal, pancreatic, and lung cancers.
CONCLUSIONS
PJS patients are markedly at risk for several malignancies, in particular gastrointestinal cancers and breast cancer. On the basis of these elevated risks, a surveillance recommendation is developed to detect malignancies in an early phase and to remove polyps that may be premalignant and may cause complications, so as to improve the outcome.
Topics: Adolescent; Adult; Aged; Breast Neoplasms; Child; Digestive System Neoplasms; Female; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Neoplasms; Peutz-Jeghers Syndrome; Population Surveillance; Risk Factors; Young Adult
PubMed: 20051941
DOI: 10.1038/ajg.2009.725 -
International Journal of Gynecological... Jan 2022To perform a systematic review of gastric-type adenocarcinoma of the cervix and lobular endocervical glandular hyperplasia (a possible precursor lesion) in Peutz-Jeghers...
OBJECTIVES
To perform a systematic review of gastric-type adenocarcinoma of the cervix and lobular endocervical glandular hyperplasia (a possible precursor lesion) in Peutz-Jeghers syndrome, and to analyze data from the literature, along with our institutional experience, to determine recommendations for screening and detection.
METHODS
A comprehensive literature searc and retrospective search of pathology records at our institutio were conducted. Articles were screened by two independent reviewers. Case reports/series on lobular endocervical glandular hyperplasia/gastric-type adenocarcinoma of the cervix in Peutz-Jeghers syndrome were included. Demographic, clinical, and radiologic information was collected.
RESULTS
A total of 1564 publications were reviewed; 38 met the inclusion criteria. Forty-nine were included in the analysis (43 from the literature, 6 from our institution). Forty-three reported on gastric-type adenocarcinoma alone, 4 on lobular endocervical glandular hyperplasia alone, and 2 on concurrent lobular endocervical glandular hyperplasia/gastric-type adenocarcinoma. Median age at diagnosis was 17 (range, 4-52) for patients with lobular endocervical glandular hyperplasia alone and 35 (range, 15-72) for those with gastric-type adenocarcinoma. The most common presenting symptoms were abdominal/pelvic pain and vaginal bleeding/discharge. Imaging was reported for 27 patients; 24 (89%) had abnormal cervical features. Papanicolaou (Pap) smear prior to diagnosis was reported for 12 patients; 6 (50%) had normal cytology, 4 (33%) atypical glandular cells, and 2 (17%) atypical cells not otherwise specified. Patients with gastric-type adenocarcinoma (n=45) were treated with surgery alone (n=16), surgery/chemotherapy/radiation (n=11), surgery/chemotherapy (n=9), surgery/radiation (n=5), or radiation/chemotherapy (n=4). Twelve (27%) of 45 patients recurred; median progression-free survival was 10 months (range, 1-148). Twenty patients (44%) died; median overall survival was 26 months (range, 2-156). Thirteen patients (27%) were alive with no evidence of disease.
CONCLUSIONS
Gastric-type adenocarcinoma in Peutz-Jeghers syndrome is associated with poor outcomes and short progression-free and overall survival. Screening recommendations, including pathognomonic symptom review and physical examination, with a low threshold for imaging and biopsy, may detect precursor lesions and early-stage gastric-type adenocarcinoma, leading to better outcomes in this high-risk population.
PROSPERO REGISTRATION NUMBER
CRD42019118151.
Topics: Adenocarcinoma; Cervix Uteri; Female; Humans; Peutz-Jeghers Syndrome; Uterine Cervical Neoplasms
PubMed: 34903560
DOI: 10.1136/ijgc-2021-002997 -
European Journal of Gastroenterology &... Jun 2012Duodenal intussusception is a rare entity. To date, only a few cases have been reported in the literature. In this report, a case of duodenal intussusception due to an... (Review)
Review
Duodenal intussusception is a rare entity. To date, only a few cases have been reported in the literature. In this report, a case of duodenal intussusception due to an unusual tumor was presented and the clinical features of this entity were discussed. A 42-year-old man with Peutz-Jeghers syndrome presented with epigastric pain, vomiting, and severe anemia. Computed tomography scan revealed synchronous duodenojejunal and jejunojejunal intussusceptions. An emergency laparotomy revealed a polypoid mass originating from the lateral wall of the descending duodenum with intussusception of the distal duodenum. Histological examination demonstrated a poorly differentiated neuroendocrine carcinoma with muscularis infiltration, vascular invasion, and a Ki-67 index of 20%. A comprehensive literature search revealed 44 English reports that provided adequate descriptions of an additional 47 such cases. Clinical presentation was usually chronic and nonspecific. Diagnostic modalities included ultrasonography, upper gastrointestinal series, computed tomography, and endoscopy. Five patients were due to a non-neoplastic lesion; however, the other 43 patients were secondary to a tumor, benign in 35 cases and malignant in eight cases. Only one patient was treated by endoscopic polypectomy, whereas the remaining underwent open surgeries. Duodenal intussusception is a challenging condition due to its rarity and nonspecific presentation. It should be considered in the differential diagnosis of gastric outlet obstruction, upper gastrointestinal bleeding, pancreatitis, and obstructive jaundice.
Topics: Adult; Carcinoma, Neuroendocrine; Diagnosis, Differential; Duodenal Diseases; Duodenal Neoplasms; Humans; Intussusception; Male; Peutz-Jeghers Syndrome
PubMed: 22356785
DOI: 10.1097/MEG.0b013e328351c1df -
United European Gastroenterology Journal May 2018Data on surveillance for pancreatic ductal adenocarcinoma (PDAC) in high-risk individuals (HRIs) with "familial pancreatic cancer" (FPC) and specific syndromes are... (Review)
Review
BACKGROUND
Data on surveillance for pancreatic ductal adenocarcinoma (PDAC) in high-risk individuals (HRIs) with "familial pancreatic cancer" (FPC) and specific syndromes are limited and heterogeneous.
OBJECTIVE
We conducted a systematic review and meta-analysis of PDAC surveillance studies in HRIs.
METHODS
Prevalence of solid/cystic pancreatic lesions and of lesions considered a successful target of surveillance (proven resectable PDAC and high-grade precursors) was pooled across studies. The rate of lesions diagnosed by endoscopic ultrasonography (EUS)/magnetic resonance imaging (MRI) and across different HRI groups was calculated.
RESULTS
Sixteen studies incorporating 1588 HRIs were included. The pooled prevalence of pancreatic solid and cystic lesions was 5.8% and 20.2%, respectively. The pooled prevalence of patients with lesions considered a successful target of surveillance was 3.3%, being similar to EUS or MRI and varying across subgroups, being 3% in FPC, 4% in hereditary pancreatitis, 5% in familial melanoma, 6.3% in hereditary breast/ovarian cancer, and 12.2% in Peutz-Jeghers syndrome. The pooled estimated rate of lesions considered a successful target of surveillance during follow-up was 5/1000 person-years.
CONCLUSION
Surveillance programs identify successful target lesions in 3.3% of HRIs with a similar yield of EUS and MRI and an annual risk of 0.5%. A higher rate of target lesions was reported in HRIs with specific DNA mutations.
PubMed: 29881603
DOI: 10.1177/2050640617752182 -
Oral Diseases Apr 2022To systematically integrate the available data published in the literature on oral pigmented lesions (OPL) associated with syndromes, summarizing the clinical and... (Review)
Review
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. Data were aggregated and statistically evaluated.
RESULTS
About 108 articles reporting 149 cases of individuals with syndromes were identified. Among the affected individuals, nine syndromes were reported. The mean age at diagnosis was 35.93 years (0.41 to 83 years), with a predilection for white (n = 85/85.86%) female (n = 102/68.46%) individuals. As regards the number of lesions, 109 (73.15%) were multiple and 40 (26.85%) were single. Lip represented the anatomical location more affected (122 cases/38.01%), followed by the buccal mucosa (100 cases/31.15%). Brownish lesions accounted for 82 (69.49%) cases. The mean time of evolution was 10.52 years (0.16 to 56 years). OPL preceding diagnosis of the syndrome was observed in 111 (74.50%) cases.
CONCLUSIONS
Although these syndromes are uncommon, dentists should be able to recognize their manifestations, since oral manifestations can represent an important aspect in early diagnosis.
Topics: Female; Humans; Hyperpigmentation; Mouth Mucosa; Syndrome
PubMed: 33394507
DOI: 10.1111/odi.13769 -
Critical Reviews in Oncology/hematology Sep 2012Individuals at risk for developing hereditary cancer are offered surveillance in order to improve the prognosis. An important question is whether the benefit of... (Review)
Review
Individuals at risk for developing hereditary cancer are offered surveillance in order to improve the prognosis. An important question is whether the benefit of surveillance outweighs the psychological burden. In this review, we evaluated all studies that investigated psychological distress and the quality of life in individuals under surveillance for hereditary cancer of the breast, ovarian, prostate, pancreas, colorectum, melanoma, and various rare syndromes such as familial adenomatous polyposis, Li-Fraumeni and Peutz-Jeghers syndrome. Thirty-two studies were identified. Surveillance for most hereditary cancers was associated with good psychological outcomes. However, surveillance of individuals at high risk for developing multiple tumors appeared to be associated with increased distress and a lower quality of life. Common factors associated with worse psychological outcomes included a personal history of cancer, female gender, having a first degree relative with cancer, negative illness perceptions and coping style. The use of a simple screening tool to identify distressed individuals is recommended.
Topics: Humans; Neoplastic Syndromes, Hereditary; Population Surveillance; Quality of Life; Risk Factors; Stress, Psychological
PubMed: 22366115
DOI: 10.1016/j.critrevonc.2012.01.004 -
Clinical Gastroenterology and... Jan 2019There have been few studies of abdominal imaging screening of individuals at high risk for pancreatic cancer (based on family history or genetic variants). We performed...
BACKGROUND & AIMS
There have been few studies of abdominal imaging screening of individuals at high risk for pancreatic cancer (based on family history or genetic variants). We performed a meta-analysis of prospective cohort studies to determine the diagnostic yield and outcomes of abdominal imaging screening for asymptomatic individuals at high risk.
METHODS
Through a systematic review of multiple electronic databases and conference proceedings through July 2017, we identified prospective cohort studies (>20 patients) of asymptomatic adults determined to be at high-risk of pancreatic cancer (lifetime risk >5%, including specific genetic-associated conditions) who were screened by endoscopic ultrasound (EUS) and/or magnetic resonance imaging (MRI) to detect pancreatic lesions. Our primary outcome was identification of high-risk pancreatic lesions (high-grade pancreatic intraepithelial neoplasia, high-grade dysplasia, or adenocarcinoma) at initial screening, and overall incidence during follow up. Summary estimates were reported as incidence rates per 100 patient-years.
RESULTS
We identified 19 studies comprising 7085 individuals at high risk for pancreatic cancer; of these, 1660 patients were evaluated by EUS and/or MRI. Fifty-nine high-risk lesions were identified (43 adenocarcinomas: 28 during the initial exam and 15 during follow-up surveillance) and 257 patients underwent pancreatic surgery. Based on our meta-analysis, the overall diagnostic yield screening for high-risk pancreatic lesions was 0.74 (95% CI, 0.33-1.14), with moderate heterogeneity among studies. The number needed to screen to identify 1 patient with a high-risk lesion was 135 (95% CI, 88-303). The diagnostic yield was similar for patients with different genetic features that increased risk, and whether patients were screened by EUS or MRI.
CONCLUSIONS
Based on meta-analysis, 135 patients at high-risk for pancreatic cancer must be screened to identify 1 patient with a high-risk pancreatic lesion. Further studies are needed to determine whether screening reduces mortality and is cost effectiveness for individuals at high-risk of pancreatic cancer.
Topics: Adult; Aged; Aged, 80 and over; Asymptomatic Diseases; Early Detection of Cancer; Female; Humans; Incidence; Male; Middle Aged; Optical Imaging; Pancreatic Neoplasms; Young Adult
PubMed: 29775792
DOI: 10.1016/j.cgh.2018.04.065