Peutz Jeghers Syndrome in 47 Years Old Woman (Histopathological Review) : Case Report (original) (raw)
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Peutz-Jegher’s Syndrome – A Case Report / Peutz-Jegher’s sindrom - prikaz slučaja
Serbian Journal of Dermatology and Venerology, 2012
Peutz-Jegher's syndrome is a hereditary disorder characterized by melanocytic macules on the lips and buccal mucosa and multiple gastrointestinal hamartomatous polyps. It is caused by a mutation localized on chromosome 19p13.3. Skin and mucosal pigmentation may be present at birth and usually occur in early childhood, but occasionally may develop later. It is associated with an increased risk of malignancy for gastrointestinal carcinoma and also for breast, ovarian, testiscular, pancreatic and gallbladder cancer. We report a 12-year-old girl who presented with disseminated petty yellowish macules on the bridge of her nose, numerous brown to bluish black macules on her lips and buccal mucosa. Mucocutaneous pigmentation has been present from the age of five, with a negative family history. In our patient, esophageal endoscopy was normal, while the endoscopy of stomach and duodenum revealed multiple diminutive polyps. After clinical evaluation, there were no indications for therapy. Further follow up was suggested. Continuous surveillance is very important for patients with Peutz-Jegher's syndrome in order to reduce risks of cancer and prevent other morbidity and mortality.
2011
Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps of the entire gastrointestinal tract. A Peutz-Jeghers polyp (PJP) in a patient without pigmentation or a family history of the disease is called an isolated or solitary PJP. Individuals with PJS carry a very high risk of developing gastrointestinal (GI) as well as extra-GI malignancies. This case report documents lesion multiplicity and their malignant potential in a young patient with PJS presenting in a serious condition for the first time. Case report: An 18-year-old female Egyptian patient was admitted with hematochezia and remarkable anemia. After appropriate resuscitation and consent, colonoscopic evaluation revealed seven pedunculated colonic polyps at the ascending and the transverse colon, and numerous variable-sized sessile polyps were scattered all over the colon. To establish hemostasis, endoscopic polypectomy for pedunculated polyps and argon plasma photocoagulation for the bleeding sessile polyps were performed. Histopathological examination revealed cecal adenocarcinoma in one specimen and two simultaneous in situ carcinoma at the transverse and the sigmoid colon in the mucosae of the excised histologically proven hamartomatous polyps. Additionally, one focal in situ carcinoma in the resected colon was detected. Conclusions: When considering the family history, serious GI neoplastic lesions may be unmasked in young patients with PJS who present with hematochezia, even in the absence of its characteristic mucocutaneous pigmented lesions. GI endoscopic surveillance programs should be adopted for diagnosed cases of PJS and their families. Genetic prenatal screening for early detection is the best option for primary prevention.
Peutz–Jeghers Syndrome which Develops into Descending Sigmoid Colon Adenocarcinoma
Indonesian Journal of Cancer
Introduction: Peutz–Jeghers Syndrome (PJS) is an autosomal dominant hereditary condition mainly characterized by hamartomatous gastrointestinal (GI) polyps. Medical treatment is often sought due to complications that arise from the polyps. PJS polyps tend to be accompanied by freckling or hyperpigmentation on the lips, buccal mucosa, vulva, fingers, and toes. PJS is also associated with an increased risk for colorectal or extraintestinal tumors. Case Presentation: A 24-year-old female complained about a lump in her abdomen and constipation. The physical examination found hyperpigmentation on the lips and a hard and mobile mass on the left quadrant abdomen. We found a descending-sigmoid colon tumor with multiple polyps on all colon mucous and performed total colectomy and ileorectal anastomosis on the laparotomy operation. Two months later, Esophagogastroduodenoscopy revealed multiple polyps on Duodenum 1, II, and gaster. The colon tumor pathology result showed welldifferentiated ade...
Cancer and the Peutz-Jeghers syndrome
Gut, 1989
Among 72 patients with the Peutz-Jeghers syndrome malignant tumours have developed in 16 (22%) of whom all but one have died. There were nine gastrointestinal and seven nongastrointestinal tumours. The relative risks of death from gastrointestinal cancer and all cancers were 13 (95% CI 2.7-38.1) and 9 (95% CI 4.2-173) respectively. The chance of dying of cancer by the age of 57 was 48%. There is evidence for a hamartoma/carcinoma sequence in the Peutz-Jeghers syndrome, suggesting that the gene locus involved is relevant to the development of malignancy in general. The Peutz-Jeghers syndrome is an autosomal dominant condition characterised by mucocutaneous pigmentation and gastrointestinal hamartomas.
Journal of Gastrointestinal and Liver Diseases, 2014
Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.
A 16-Year-Old Female with Peutz-Jeghers Syndrome
Journal of Enam Medical College, 2014
Peutz-Jeghers syndrome is a rare autosomal dominant disorder of hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips and macules on the buccal mucosa that typically manifests itself as recurrent colicky abdominal pain and intestinal obstruction due to intussusception. Here we report a case of a 16-year-old girl who presented with abdominal pain, vomiting and previous history of laparotomy for intussusception. Multiple well demarcated black pigmented macules on lips, perioral region, buccal mucosa, digits, palms and soles were noted. She was diagnosed as a case of Peutz-Jeghers syndrome and managed conservatively.
Peutz-Jeghers syndrome. A case report
Acta dermatovenerologica Alpina, Panonica, et Adriatica
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...
Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome
Cancer research, 1998
Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by intestinal hamartomatous polyps, mucocutaneous melanin deposition, and increased risk of cancer. Families with PJS from the Johns Hopkins Polyposis Registry were studied to identify the molecular basis of this syndrome and to characterize the pathogenesis of gastrointestinal hamartomas and adenocarcinomas in PJS patients. Linkage analysis in the family originally described by Jeghers in 1949 and five other families confirmed linkage to 19p13.3 near a recently identified gene responsible for PJS. Germ-line mutations in this gene, STK11, were identified in all six families by sequencing genomic DNA. Analysis of hamartomas and adenocarcinomas from patients with PJS identified loss of heterozygosity (LOH) of 19p markers near STK11 in 70% of tumors. Haplotype analysis indicated that the retained allele carried a germ-line mutation, confirming that STK11 is a tumor suppressor gene. LOH of 17p and 18q was iden...