1/31. Misplacement of dysplastic epithelium in Peutz-Jeghers Polyps: the ultimate diagnostic pitfall?peutz-jeghers syndrome is characterized by multiple polyps throughout the gastrointestinal tract in association with mucocutaneous pigmentation. Small bowel polyps in the syndrome may exhibit epithelial misplacement, into the submucosa, the muscularis propria, and even the subserosa. The authors demonstrate two patients in whom there is also misplacement of dysplastic epithelium into the submucosa and muscularis propria of the small bowel. Epithelial misplacement is recognized to mimic invasive malignancy. Such mimicry is heightened substantially when the misplaced epithelium is dysplastic. Correct interpretation of the histologic changes is aided by the use of special stains, which demonstrate the associated lamina propria and the lack of a desmoplastic response, and immunohistochemistry, which shows that the misplaced dysplastic epithelium is accompanied by non-neoplastic mucosa. There is an increased prevalence of gastrointestinal malignancy in peutz-jeghers syndrome. However, the presence of perplexing histologic features, caused by epithelial misplacement, especially when some of that epithelium is dysplastic, in small bowel polyps at least has the potential for the overdiagnosis of malignancy in the syndrome.- - - - - - - - - - ranking = 1keywords = mucosa (Clic here for more details about this article) |
2/31. peutz-jeghers syndrome: case report.A case of peutz-jeghers syndrome (PJS) in an African girl is presented to document the clinical presentation, management and follow up of this condition. The patient who presented with black buccal mucosal hyperpigmentation and clinical features of jejuno-jejunal intussusception was successfully managed by operative reduction of the intussusception and polypectomy. She is being followed up for evidence of malignant transformation in associated intestinal polyps and development of extra-intestinal malignancies at other sites. The management of PJS in light of recent trends is discussed, especially with reference to suggested protocols for screening and surveillance of sites at supposed risk of tumour development.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
3/31. A case of pulmonary adenocarcinoma accompanied by superior vena caval thrombosis in a patient with peutz-jeghers syndrome.A case of lung adenocarcinoma and extensive deep vein thrombosis in a patient with peutz-jeghers syndrome (PJS) is presented. A 31-year-old Chinese man complained of shoulder pain and swelling of the right arm. A series of diagnostic procedures revealed a primary adenocarcinoma in the left upper lobe with cervical and supraclavicular lymph node metastases accompanied by deep vein thrombosis in the superior vena cava and right jugular vein. In addition, typical pigmentation of the lips and oral mucosa and multiple hamartomas in the stomach, duodenum and colon led to the diagnosis of PJS. PJS is known to be associated with increased risk of malignancies, especially in the gastrointestinal tract, breast, genitals and pancreas. As bronchoscopic examination showed no hamartomatous lesions in the bronchi, the development of primary lung cancer in this young patient might be independent of any hamartomatous lesion and might be associated with some genetic factors relating to PJS.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
4/31. peutz-jeghers syndrome associated with intestinal intussusception: a case report.A 12-year-old boy visited our hospital with complaints of severe upper abdominal pain and vomiting. Marked tenderness was present in the upper abdomen, and a movable hard tumor the size of a fist was felt there. Because abdominal computed tomography scans revealed invagination, an emergency laparotomy was performed. The small intestine was invaginated over an area measuring 30 cm in length. After the invaginated intestine was restored, a mass was felt in the small intestine, which was resected over an area measuring approximately 10 cm in length. The extracted mass was histopathologically found to be a hamartoma. The patient was diagnosed to have peutz-jeghers syndrome (PJS) based on the presence of pigmented spots detected on the oral cavity, lips, and toes of both feet. PJS is an autosomal dominant genetic disease associated with melanin pigment spots on the oral mucosa, lips, nasal alae, palm, and soles, as well as hamartomatous polyposis in the alimentary canal. Polyps are often a cause of invagination and ileus in affected patients. Gastrointestinal cancer, uterine cancer, and breast cancer are also seen in patients with PJS. A long-term follow-up is required to prevent invagination and ileus in children and cancer in adults.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
5/31. A peutz-jeghers syndrome case with iron deficiency anemia and jejuno-jejunal invagination.peutz-jeghers syndrome is an autosomal dominantly inherited rare syndrome characterized by mucocutaneous pigmentations, with intestinal and extraintestinal polyps. It is accepted to be a precancerous syndrome. The polyps can cause anemia and intestinal obstruction and intussuception. We present a young patient admitted to our clinic with a history of recent gastrointestinal bleeding. Upper and lower gastrointestinal endoscopic examinations revealed multiple polyps located in the stomach, jejunum, rectum and terminal ileum. In addition, there were many mucocutaneous pigmentations on the lips, buccal mucosa and finger and toe nails. Jejunal polyps were found to be the cause of jejuno-jejunal invagination and iron deficiency anemia. Histopathological evaluation of the polyps revealed hamartomatous polyps of peutz-jeghers syndrome and this diagnosis was supported by a dermatology specialist. It is suggested that any patient presenting with ileus attacks and findings of anemia should be investigated for polyps and mucocutaneous pigmentations of the precancerous peutz-jeghers syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
6/31. An unusual admixture of neoplastic and metaplastic lesions of the female genital tract in the peutz-jeghers syndrome.BACKGROUND: peutz-jeghers syndrome (PJS) is a rare autosomal dominant condition with variable penetrance characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. patients with PJS have an increased risk for breast, gastrointestinal and female genital tract cancers. CASE: Multiple genital tract neoplasms in a 41-year-old Italian woman with PJS are described. The patient presented with abdominal pain due to intussusception. A CT scan of the abdomen also showed a left adnexal mass, diagnosed as ovarian mixed serous and mucinous borderline tumor. An ovarian microscopic sex cord tumor with annular tubules (SCTAT) was incidentally diagnosed together with a minimal deviation mucinous adenocarcinoma of the uterine cervix. Also areas of typical hyperplasia of the tubal mucosa with mucinous metaplasia were found. CONCLUSION: This appears to be one of the rare cases reported in literature in which PJS is complicated by multiple and contemporaneous genital tract tumors and rare histological findings. The clinical significance of recurrence of these unusual genital tract tumors and histological alterations in PJS patients is reviewed.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
7/31. Complete germline deletion of the STK11 gene in a family with peutz-jeghers syndrome.peutz-jeghers syndrome (PJS, MIM175200) is an autosomal-dominant inherited disorder characterised by multiple gastrointestinal hamartomatous polyps, melanin spots of the oral mucosa and digits, and an increased risk for various neoplasms. The PJS results from germline alterations of the STK11/LKB1 tumour suppressor gene, located on 19p13.3, and encoding a serine/threonine kinase. The detection of STK11 germline mutations, in only 50-70% of PJS families, has suggested a genetic heterogeneity of the disease. We report the case of a family with typical features of PJS, including gastrointestinal hamartomatous, breast cancers and melanin spots of the oral mucosa. Quantitative multiplex PCR of short fluorescent fragments (QMPSF) of the 19p13 region allowed us to identify an approximately 250 kb heterozygous deletion removing entirely the STK11 locus. This report, which constitutes the first description of a complete germline deletion of STK11, shows that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations of STK11.- - - - - - - - - - ranking = 0.66666666666667keywords = mucosa (Clic here for more details about this article) |
8/31. A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysis.BACKGROUND/AIMS: We report a case of solitary Peutz-Jeghers-type hamartomatous polyp of the duodenum in a 22-year-old Japanese woman along with the results of genomic analysis. methods/RESULTS: The patient was almost asymptomatic, though endoscopic examination revealed a solitary lobular polypoid lesion measuring 3 cm in diameter in the first portion of the duodenum. The lesion was resected endoscopically. Histopathological examination showed hyperplasia with a tree branch-like extension of the lamina propria derived from the muscularis mucosae, consistent with histological features of polyps of peutz-jeghers syndrome (PJS). No mucocutaneous pigmentation of the skin was evident and family history was negative. Analysis of the loss of heterozygosity at the locus of 19p 13.3 and mutation analysis of the STK11/LKB1 gene, which has recently been recognized as a susceptible gene in PJS, were performed. However, no evidence of genomic abnormality was found. CONCLUSION: The clinical and investigative findings in our case suggest that the solitary Peutz- Jeghers-type hamartomatous polyp can be regarded as a clinical entity separate from PJS.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
9/31. Bronchioloalveolar carcinoma: a new cancer in peutz-jeghers syndrome.Besides gastrointestinal hamartomatous polyposis and melanin spots in the skin and mucosa, patients with the peutz-jeghers syndrome (PJS) have repeatedly been observed with a variety of tumours, including lung cancer. Available data indicate an increased cancer risk among PJS patients, which suggests that the gene involved in PJS, STK11 on chromosome 19p13.3, may be a tumour suppressor gene. Herein, bronchioloalveolar carcinoma (BAC) of mucinous type is reported in a 22-year old male PJS patient with a novel germline frameshift insertion in exon 2 at codon 118 of the STK11 gene. Molecular studies of his BAC indicated loss of heterozygosity (LOH) in the region of STK11 on chromosome 19p13.3. This observation supports the hypothesis that STK11 is a tumour suppressor gene which is involved in the development of lung adenocarcinoma.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
10/31. peutz-jeghers syndrome. A case report.peutz-jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastro intestinal (GI) tract, with pigmentation around lips and macules on the buccal mucosa. The case of a 10-year-old girl who presented with intussusception is reported. A polyp was found to be the cause of an invagination. Histologically it was a hamartoma. PJS is a rare syndrome inherited in an autosomal dominant pattern. Most patients have recurrent episodes of polyp induced bowel intussusception which requires repeated laparotomies. In addition, these patients have an increased risk of malignant disease in gastrointestinal and also non-gastrointestinal sites. To prevent cancer and short bowel syndrome, aggressive screening is recommended. Upper and lower endoscopy should be performed every two years from 10 years of age. Extra-intestinal surveillance for cancers, including abdominal and pelvic ultrasound, as well as testicular and breast examinations once yearly should be introduced in the second decade of life.- - - - - - - - - - ranking = 0.33333333333333keywords = mucosa (Clic here for more details about this article) |
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