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Journal of Pediatric Gastroenterology... Sep 2019Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they... (Review)
Review
Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they can be the harbingers of multiorgan cancer risk and require close management and follow-up. Additionally, as many polyposis syndromes are inherited, appropriate genetic testing and management of relatives is vital for the health of the entire family. In this review, we discuss both common and uncommon childhood gastrointestinal polyposis syndromes in terms of clinical presentation, management, and surveillance. We also detail any additional malignancy risk and surveillance required in the pediatric age group (<21 years old). Through this review, we provide a framework for gastroenterologists to manage the multifaceted nature of pediatric polyposis syndromes.
Topics: Adenomatous Polyposis Coli; Adolescent; Child; Gastrointestinal Neoplasms; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Humans; Peutz-Jeghers Syndrome; Practice Guidelines as Topic
PubMed: 31211762
DOI: 10.1097/MPG.0000000000002421 -
Annals of Dermatology Nov 2023Peutz-Jeghers syndrome (PJS; MIM 175200) is an autosomal dominant multiple-organ cancer syndrome. It is characterized by brown macules distributed in the perioral skin,...
Peutz-Jeghers syndrome (PJS; MIM 175200) is an autosomal dominant multiple-organ cancer syndrome. It is characterized by brown macules distributed in the perioral skin, oral mucosa, hands and feet, and hamartomatous gastrointestinal polyps that can eventually lead to intestinal obstruction, abdominal pain, bleeding, and anemia. Patients with PJS are at a higher risk of ovarian, testicular, breast, lung, and pancreatic cancers. This predisposition is due to the pathogenic variant in serine/threonine kinase 11 () gene located on chromosome 19p13.3. Here, we present the dermoscopic findings, histopathologic features of acral pigmentation, and DNA sequencing results of the patient with PJS. We also report a successful removal of acral pigmentation using the Q-switched Nd:YAG laser (QSNYL) treatment. Our results suggest that QSNYL therapy could be a treatment option for acral pigmentation in patients with PJS.
PubMed: 38061703
DOI: 10.5021/ad.21.215 -
Annals of Medicine and Surgery (2012) May 2023Peutz-Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous...
UNLABELLED
Peutz-Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal obstruction, in particular intussusception in the young, is a serious sequalae of PJS.
CASE PRESENTATION
A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised.
CLINICAL FINDINGS AND INVESTIGATIONS
While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72 g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4 mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10 mm in size). Acute intussusception of the intestine was discovered by ultrasonography.
INTERVENTIONS AND OUTCOME
A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively.
RELEVANCE AND IMPACT
Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.
PubMed: 37228960
DOI: 10.1097/MS9.0000000000000675 -
Gastrointestinal Tumors Sep 2015Digestive hamartomatous polyps are a rare entity. They may be sporadic (solitary Peutz-Jeghers polyp or solitary juvenile polyp) or reveal genetic predisposition like... (Review)
Review
BACKGROUND
Digestive hamartomatous polyps are a rare entity. They may be sporadic (solitary Peutz-Jeghers polyp or solitary juvenile polyp) or reveal genetic predisposition like Peutz-Jeghers syndrome, juvenile polyposis or Cowden disease.
SUMMARY
Diagnosis is based on personal and family history and on clinical data including physical signs (in particular dermatological), endoscopic findings (the number of polyps) and histological features of the polyps. The risk of complications and of digestive and extra-digestive cancers may be high, especially in case of genetic predisposition syndromes, and requires multidisciplinary management of the patients (oncogenetic counseling, gastroenterologist, pathologist, dermatologist, gynecologist and endocrinologist). Endoscopic evaluation is very helpful to establish the current situation, to perform polypectomy and to allow for good histological examination of the polyps, whose degeneration has been exceptionally described. The recent development of new molecular techniques (next-generation DNA sequencing) allows for rapid multiple gene sequencing and facilitates diagnosis.
KEY MESSAGE
Discovery of a hamartomatous polyp requires a rigorous work-up which should be performed by a multidisciplinary team, including a genetic oncologist, experienced in this pathology.
PRACTICAL IMPLICATIONS
The diagnostic procedure in hamartomatous polyps should be based on the number of polyps identified during endoscopy (solitary versus multiple) and on their histological characteristics. The clinical examination must search for mucosal and skin lesions. If a polyposis syndrome is identified, oncogenetic consultation is necessary in order to define screening modalities for family members, aiming at preventing cancer development. Endoscopic resection (polypectomy) of the lesions may prevent complications like bleeding and degeneration and also diminish the risk of surgery and subsequent short bowel syndrome.
PubMed: 26672891
DOI: 10.1159/000437175 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Dec 2018To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS). Methods: We...
To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS). Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017. Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. The pigmentation was first noticed often within 5 years old, and 14 cases had family history. The clinical manifestations mainly included black spots, abdominal pain, hematochezia, and anemia. Histological examinations showed that 20 patients were classified as hamartomatous polyps,18 as adenomatous polyps, 14 as inflammatory polyps, and 10 as zigzag polyps. Eleven patients sequenced a panel of 20 genes previously associated with colorectal cancer (CRC) by next-generation sequencing, and the results showed 5 patients with gene mutations, and 3 of them with intussusception and surgical histories were found to have pathogenic germline mutations in the STK11 gene. Endoscopic treatment was the main therapy, but endoscopy combined with laparoscopy or surgical treatment was performed when complications occurred or the polyp was too large. Malignant tumors were found in 3 patients during follow-up. Conclusion: PJS is a hereditary disease which is characterized by spots of the skin or mucosa and gastrointestinal multiple polyps. The main pathological features are hamartoma and adenoma. The risks for intussusception and surgical operation are found to be high in the patients with pathogenic germline mutations in the STK11 gene. Endoscopic treatment is the main therapy. PJS patients should be followed up regularly due to the increasing risk for cancer and being easily to relapse.
Topics: AMP-Activated Protein Kinase Kinases; Child, Preschool; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Neoplasm Recurrence, Local; Peutz-Jeghers Syndrome; Protein Serine-Threonine Kinases; Retrospective Studies
PubMed: 30643048
DOI: 10.11817/j.issn.1672-7347.2018.12.007 -
Asian Journal of Surgery May 2024
PubMed: 38760211
DOI: 10.1016/j.asjsur.2024.04.115 -
Romanian Journal of Morphology and... 2008Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3... (Review)
Review
Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches of brown or almost black pigmentation 1 to 5 mm diameter, irregularly distributed over the oral mucosa, gums, hard palate and lips (especially the lower) are observed. The pigmented maculae on the face, encountered especially around the nose and mouth are smaller. Polyps may appear in the stomach, small bowel or colon, with hamartomatous aspects on histology. Acute upper gastrointestinal bleeding and chronic fecal blood loss may appear during the course of disease. There is a higher risk of intestinal and extraintestinal cancers in those patients. We present the case of an 18-year-old young girl accusing since the age of 3 slight intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron-deficiency anemia. Physical examination revealed pigmented lesions suggesting PSJ on the palatine and jugal mucosa while endoscopy found a lot of polyps in stomach and a few, isolated in the colon, all having the same hamartomatous pattern. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips, buccal mucosa and perioral skin, should alert the clinician to PJS.
Topics: Adolescent; Endoscopy, Gastrointestinal; Female; Humans; Peutz-Jeghers Syndrome
PubMed: 18516333
DOI: No ID Found -
Boletin Medico Del Hospital Infantil de... 2022Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by the development of polyps in the gastrointestinal tract, mucocutaneous... (Observational Study)
Observational Study
BACKGROUND
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by the development of polyps in the gastrointestinal tract, mucocutaneous pigmentation, and the risk of developing malignant neoplasms. This study aimed to analyze the epidemiological, clinical, and histopathological data of patients with PJS treated in a tertiary pediatric hospital.
METHODS
We conducted a retrospective observational study to describe the epidemiological, clinical, endoscopic, and histological characterization of patients with PJS treated in a tertiary pediatric hospital in Mexico.
RESULTS
We included 13 cases with a male-female ratio of 1.16:1. Abdominal pain was the main reason for consultation, followed by rectorrhagia. Patients showed mucocutaneous pigmentation and polyps in the gastrointestinal tract, frequently of the hamartomatous type, although inflammatory polyps, follicular hyperplasia, and adenomatous polyps were also found. Among the complications, there was a high prevalence of emergency surgery secondary to abdominal obstructive processes, the main reason for first-time consultation in these patients.
CONCLUSIONS
The main clinical manifestations were mucocutaneous pigmentation, abdominal pain, and rectorrhagia. PJS should be included in the differential diagnosis in the presence of intestinal obstruction. The diagnosis of PJS should not be excluded if hamartomatous polyps are not evident on the first endoscopy. Nutritional assessment should be included due to the risk of presenting some degree of malnutrition.
Topics: Humans; Female; Male; Child; Peutz-Jeghers Syndrome; Tertiary Healthcare; Abdominal Pain; Mexico
PubMed: 36477417
DOI: 10.24875/BMHIM.22000036 -
The Journal of International Medical... Mar 2021There are no standard treatment options for metastatic and recurrent non-Peutz-Jeghers syndrome (PJS)-associated sex cord tumor with annular tubules (SCTAT). The effects... (Review)
Review
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. Radiotherapy (50 Gy/25 fractions) triggered a sharp reduction in the sizes of the metastatic and recurrent masses, and estradiol and progesterone concentrations. Accordingly, we consider that radiotherapy might be effective and safe for metastatic and recurrent SCTAT. The roles of radiotherapy in non-PJS SCTAT should be further validated in large-scale prospective clinical trials.
Topics: Estrogens; Female; Humans; Ovarian Neoplasms; Peutz-Jeghers Syndrome; Prospective Studies; Sex Cord-Gonadal Stromal Tumors
PubMed: 33715493
DOI: 10.1177/0300060521996563 -
Journal of Clinical Pathology Apr 2007Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis syndrome of the gastrointestinal tract, caused by a germline STK11/LKB1 mutation. Nasal...
BACKGROUND
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis syndrome of the gastrointestinal tract, caused by a germline STK11/LKB1 mutation. Nasal polyposis was described in the original report by Peutz. Recently, a molecular-genetic association between nasal polyposis and PJS has been reported.
OBJECTIVE
To further explore the occurrence and pathogenesis of PJS-related nasal polyposis.
METHODS
51 patients with PJS, 84 unaffected family members and 36 spouses from 18 families with PJS were questioned for the presence of nasal polyposis. 12 PJS-related nasal polyps, 1 carcinoma of the nasal cavity and 28 sporadic nasal polyps were analysed for loss of (wild type) STK11/LKB1, eosinophilia, squamous metaplasia, dysplasia and expression of cyclo-oxygenase 2 and p53.
RESULTS
Nasal polyps occurred in 8 of 51 patients with PJS, and were not reported by non-affected family members (p<0.001). Germline STK11/LKB1 mutations were identified in all patients with PJS and nasal polyposis. Loss of heterozygosity was found in four of eight PJS-related nasal polyps, but not in sporadic nasal polyps (p = 0.002). PJS-related nasal polyps showed less eosinophilia than sporadic nasal polyps (p<0.001). Expression of cyclo-oxygenase 2 was found in 11 of 12 PJS-related nasal polyps and 19 of 28 sporadic nasal polyps (p>0.05). Overexpression of p53 was not found.
CONCLUSIONS
Nasal polyposis occurs in a significant number of Dutch patients with PJS, one of whom developed a carcinoma in the nasal cavity. The loss of heterozygosity, and the absence of eosinophilia suggest a distinct pathogenesis compared with sporadic nasal polyposis.
Topics: AMP-Activated Protein Kinase Kinases; Adolescent; Child; Cyclooxygenase 2; Eosinophilia; Female; Germ-Line Mutation; Humans; Loss of Heterozygosity; Male; Middle Aged; Nasal Polyps; Peutz-Jeghers Syndrome; Protein Serine-Threonine Kinases; Tumor Suppressor Protein p53
PubMed: 16775120
DOI: 10.1136/jcp.2005.036418