Diagnostic difficulty in Peutz–Jeghers syndrome

Journal of Coloproctology - Tập 35 - Trang 67-71 - 2015
Jenifer Loureiro1, Gian Luigi Menegazzo1, Lucas Vergamini1, Roberto Carmagnani Pestana1, Fernanda Bellotti Formiga2, Marcella Guilherme Carolino de Sousa2, Thais Yuka Takahashi2, Felipe Silveira3, Paulo de Azeredo Passos Candelária2, Dino Martini Filho4, Fang Chia Bin2
1Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil
2Department of Surgery, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil
3Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil
4Department of Pathology, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil

Tóm tắt

AbstractA case of diagnostic difficulty facing the patient with colonic polyposis secondary to Peutz–Jeghers syndrome, but without family history and pathognomonic clinical features of the disease, is illustrated. The exams, including biopsy, led to diagnostic uncertainty and the definitive diagnosis was characterized in therapeutic of exception.

Tài liệu tham khảo

Jeghers, 1949, Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance, N Engl J Med, 241, 1031, 10.1056/NEJM194912292412601 Kopacova, 2009, Peutz–Jeghers syndrome: diagnostic and therapeutic approach, World J Gastroenterol, 15, 5397, 10.3748/wjg.15.5397 Stojcev, 2013, Hamartomatous polyposis syndromes, Hered Cancer Clin Pract, 11, 4, 10.1186/1897-4287-11-4 Kudo, 1996, Diagnosis of colorectal tumorous lesions by magnifying endoscopy, Gastrointest Endosc, 44, 8, 10.1016/S0016-5107(96)70222-5 Peutz, 1921, Over een zeer merkwaardige, gecombineerde familiaire pollyposis van de sligmliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-en slijmvliezen, Ned Maandschr v Gen, 10, 134 Utsunomiya, 1975, Peutz–Jeghers syndrome: its natural course and management, Johns Hopkins Med J, 136, 71 Taheri, 2013, Cancer problem in Peutz–Jeghers syndrome, Adv Biomed Res, 2, 35, 10.4103/2277-9175.109721 Lim, 2003, Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome, Br J Cancer, 89, 308, 10.1038/sj.bjc.6601030 Horii, 2012, Development of invasive colon cancer with microsatellite instability in a patient with hyperplastic polyposis syndrome, Jpn J Clin Oncol, 42, 451, 10.1093/jjco/hys031 Giardiello, 1987, Increased risk of cancer in the Peutz–Jeghers syndrome, N Engl J Med, 316, 1511, 10.1056/NEJM198706113162404 Chen, 2009, Genetics of the hamartomatous polyposis syndromes: a molecular review, Int J Colorectal Dis, 24, 865, 10.1007/s00384-009-0714-2 Burkart, 2007, Do sporadic Peutz–Jeghers polyps exist? Experience of a large teaching hospital, Am J Surg Pathol, 31, 1209, 10.1097/PAS.0b013e3180339944 Giardiello, 2000, Very high risk of cancer in familial Peutz–Jeghers syndrome, Gastroenterology, 119, 1447, 10.1053/gast.2000.20228 Oncel, 2004, Benefits of ‘clean sweep’ in Peutz–Jeghers patients, Colorectal Dis, 6, 332, 10.1111/j.1463-1318.2004.00623.x Vidal, 2009, Follow-up and surgical management of Peutz–Jeghers syndrome in children, J Pediatr Gastroenterol Nutr, 48, 419, 10.1097/MPG.0b013e318180af62 Gay, 2008, Capsule endoscopy in non-steroidal anti-inflammatory drugs-enteropathy and miscellaneous, rare intestinal diseases, World J Gastroenterol, 14, 5237, 10.3748/wjg.14.5237 Gammon, 2009, Hamartomatous polyposis syndromes, Best Pract Res Clin Gastroenterol, 23, 219, 10.1016/j.bpg.2009.02.007 Hearle, 2006, Frequency and spectrum of cancers in the Peutz–Jeghers syndrome, Clin Cancer Res, 12, 3209, 10.1158/1078-0432.CCR-06-0083 Boardman, 1998, Increased risk for cancer in patients with the Peutz–Jeghers syndrome, Ann Intern Med, 128, 896, 10.7326/0003-4819-128-11-199806010-00004 Yajima, 2013, Novel serine/threonine kinase 11 gene mutations in Peutz–Jeghers syndrome patients and endoscopic management, World J Gastrointest Endosc, 5, 102, 10.4253/wjge.v5.i3.102