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Peutz-Jeghers-Syndrom

  • Chapter
Molekularmedizinische Grundlagen von hereditären Tumorerkrankungen

Part of the book series: Molekulare Medizin ((MOLMED))

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Zusammenfassung

Auf einer Tagung der Äskulapgesellschaft von London im Jahr 1885 stellte J.R.T. Conner 12-jahrige Zwillingsschwestern mit „tintenscnwareer Pigmentierung der Lippen und des Mundes}“ und einer schweren Anamie vor (Connor 1895; Trau 1982). Von diesem Bericht erfuh r auch Sir Jonathan Hutchinso n, ein herausragender Arzt jener Zeit, der die Gesichter der beiden Zwillingsschwestern mit den Pigmentierungen zeichnete und die ungewohnliche periorale Pigmentflecken bildung im [ahr 1896 als kasuistisc hen Bericht ausfuhrlich publizierte (Hutchinson 1896). Viele Jahre spater berichtete Weber (1949), dass eine der Zwillingsschwestern mit 20 [ahren an Darminvagination verstorben sei. Bei der anderen Schwester waren gastrointestina le Beschwerden unbekannt geblieben . Bemerkenswerterweise verstarb diese jedoch mit 52 [ahren an Mammakarzinom (Weber 1949; leghers et al. 1949).

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Literatur

  • Ahn GH, Chi JG, Lee SK (1986) Ovarian sex cord tumor with annular tubules. Cancer 57:1066–1073

    Article  PubMed  CAS  Google Scholar 

  • Amos CI, Bali D, Thiel TJ et al. (1997) Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 57:3653–3656

    PubMed  CAS  Google Scholar 

  • Astengo-Osuna C (1984) Ovarian sex-cord tumor with annular tubules. Case report with ultrastructural findings. Cancer 54:1070–1075

    Article  PubMed  CAS  Google Scholar 

  • Avizienyte E, Roth S, Loukola A et al. (1998) Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res 58:2087–2090

    PubMed  CAS  Google Scholar 

  • Avizienyte E, Loukola A, Roth S et al. (1999) LKB1 somatic mutations in sporadic tumors. Am J Pathol 154:677–681

    Article  PubMed  CAS  Google Scholar 

  • Back W, Loff S, Jenne D, Bleyl U (1999) Immunolocalization of β-catenin in intestinal polyps of Peutz-Jeghers and juvenile polyposis syndromes. J Clin Pathol 52:345–349

    Article  PubMed  CAS  Google Scholar 

  • Bali D, Gourley IS, McGarrity TJ, Spencer CA, Howard L, Frazier ML (1995) Peutz-Jegher’s syndrome maps to chromosome lp. Am J Hum Genet 57:A186

    Google Scholar 

  • Bartholomew LG, Dahlin DC, Waugh JM (1957) Intestinal polyposis associated with mucocutaneous melanin pigmentation (Peutz-Jeghers syndrome). Review of the literature and report of six cases with special reference to pathologic findings. Gastroenterology 32:434–451

    PubMed  CAS  Google Scholar 

  • Benagiano G, Bigotti G, Buzzi M, D'Alessandro P, Napolitano C (1988) Endocrine and morphological study of a case of ovarian sex-cord tumor with annular tubules in a woman with Peutz-Jeghers syndrome. Int J Gynaecol Obstet 26:441–452

    Article  PubMed  CAS  Google Scholar 

  • Bignell GR, Barfoot R, Seal S, Collins N, Warren W, Stratton MR (1998) Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. Cancer Res 58:1384–1386

    PubMed  CAS  Google Scholar 

  • Boardman LA, Thibodeau SN, Schaid DJ et al. (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899

    PubMed  CAS  Google Scholar 

  • Boardman LA, Couch FJ, Burgart LJ et al. (2000) Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 16:23–30

    Article  PubMed  CAS  Google Scholar 

  • Bowlby LS (1986) Pancreatic adenocarcinoma in an adolescent male with Peutz-Jeghers syndrome. Hum Pathol 17:97–99

    Article  PubMed  CAS  Google Scholar 

  • Brand E (1992) Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum. Gynecol Oncol 45:334–335

    Article  PubMed  CAS  Google Scholar 

  • Bruwer A, Bargen JA, Kierland RR (1954) Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin 29:168

    PubMed  CAS  Google Scholar 

  • Bundesärztekammer (1998) Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Arztebl 95:1396–1403

    Google Scholar 

  • Burdick D, Prior JT (1982) Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year fol-low-up. Cancer 50:2139–2146

    Article  PubMed  CAS  Google Scholar 

  • Burke AP, Sobin LH (1989) The pathology of Cronkhite-Canada polyps. A comparison to juvenile polyposis. Am J Surg Pathol 13:940–946

    Article  PubMed  CAS  Google Scholar 

  • Burwinkel B, Miglierini G, Jenne DE et al. (1998) Structure of the human paralemmin gene (PALM), mapping to human chromosome 19pl3.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. Genomics 49:462–466

    Article  PubMed  CAS  Google Scholar 

  • Cantu JM, Rivera H, Ocampo-Campos R et al. (1980) Peutz-Jeghers syndrome with feminizing Sertoli cell tumor. Cancer 46:223–228

    Article  PubMed  CAS  Google Scholar 

  • Chen KT (1986) Female genital tract tumors in Peutz-Jeghers syndrome. Hum Pathol 17:858–861

    Article  PubMed  CAS  Google Scholar 

  • Chen J, Lindblom A (2000) Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p. Clin Genet 57:394–397

    Article  PubMed  CAS  Google Scholar 

  • Choi CG, Kim SH, Kim JS, Chi JG, Song ES, Han MC (1993) Adenoma malignum of uterine cervix in Peutz-Jeghers syndrome: CT and US features. J Comput Assist Tomogr 17:819–821

    Article  PubMed  CAS  Google Scholar 

  • Christian CD (1971) Ovarian tumors: an extension of the Peutz-Jeghers syndrome. Am J Obstet Gynecol 111:529–534

    PubMed  CAS  Google Scholar 

  • Christian CD, McLoughlin TG, Cathcart ER, Eisenberg MM (1964) Peutz-Jeghers syndrome associated with functioning ovarian tumor. JAMA 190:935–938

    Article  PubMed  CAS  Google Scholar 

  • Collins SP, Reoma JL, Gamm DM, Uhler MD (2000) LKB1, a novel serine/threonine protein kinase and potential tumour suppressor, is phosphorylated by cAMP-dependent protein kinase (PKA) and prenylated in vivo. Biochem J 345:673–680

    Article  PubMed  CAS  Google Scholar 

  • Connolly DC, Katabuchi H, Cliby WA, Cho KR (2000) Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher’s syndrome. Am J Pathol 156:339–345

    Article  PubMed  CAS  Google Scholar 

  • Connor JT (1895) Aesculapian society of London. Lancet 2:11–69

    Google Scholar 

  • Corley DA, Uyeki TM, Cello JP (1997) Gastrointestinal bleeding and gastric outlet obstruction from Peutz-Jeghers polyposis. Diagnosis and treatment. West J Med 166:350–352

    PubMed  CAS  Google Scholar 

  • Cunningham JD, Vine AJ, Karch L, Aisenberg J (1998) The role of laparoscopy in the management of intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. Surg Laparosc Endosc 8:17–20

    Article  PubMed  CAS  Google Scholar 

  • DePadova-Elder SM, Milgraum SS (1994) Q-switched ruby laser treatment of labial lentigines in Peutz-Jeghers syndrome. J Dermatol Surg Oncol 20:830–832

    PubMed  CAS  Google Scholar 

  • Dippolito AD, Aburano A, Bezouska CA, Happ RA (1987) Enteritis cystica profunda in Peutz-Jeghers syndrome. Report of a case and review of the literature. Dis Colon Rectum 30:192–198

    Article  PubMed  CAS  Google Scholar 

  • Dong SM, Kim KM, Kim SY et al. (1998) Frequent somatic mutations in serine/threonine kinase 11/Peutz-Jeghers syndrome gene in left-sided colon cancer. Cancer Res 58:3787–3790

    PubMed  CAS  Google Scholar 

  • Dozois RR, Judd ES, Dahlin DC, Bartholomew LG (1969) The Peutz-Jeghers syndrome. Is there a predisposition to the development of intestinal malignancy? Arch Surg 98:509–517

    Article  PubMed  CAS  Google Scholar 

  • Dozois RR, Kempers RD, Dahlin DC, Bartholomeew LG (1970) Ovarian tumors associated with the Peutz-Jeghers syndrome. Ann Surg 172:233–238

    Article  PubMed  CAS  Google Scholar 

  • Dozois RR, Dahlin DC, Bartholomew LG (1973) Ovarian tumors associated with the Peutz-Jeghers syndrome. Prog Clin Cancer 5:187–193

    PubMed  CAS  Google Scholar 

  • Dreyer L, Jacyk WK, Plessis DJ du (1994) Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz-Jeghers syndrome: a case report. Pediatr Dermatol 11:335–337

    Article  PubMed  CAS  Google Scholar 

  • Dubois RS, Hoffman WH, Krishnan TH et al. (1982) Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. J Pediatr 101:568–571

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Ji H (1998) Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters (editorial). Am J Hum Genet 62:1020–1022

    Article  PubMed  CAS  Google Scholar 

  • Esteller M, Avizienyte E, Corn PG et al. (2000) Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene 19:164–168

    Article  PubMed  CAS  Google Scholar 

  • Fetissof F, Berger G, Dubois MP, Philippe A, Lansac J, Jobard P (1985) Female genital tract and Peutz-Jeghers syndrome: an immunohistochemical study. Int J Gynecol Pathol 4:219–229

    Article  PubMed  CAS  Google Scholar 

  • Flageole H, Raptis S, Trudel JL, Lough JO (1994) Progression toward malignancy of hamartomas in a patient with Peutz-Jeghers syndrome: case report and literature review. Can J Surg 37:231–236

    PubMed  CAS  Google Scholar 

  • Fujita S, Kusunoki M, Sakanoue Y, Yamamura T, Utsunomiya J (1990) Preoperative endoscopy in Peutz-Jeghers syndrome. Lancet 335:415–416

    Article  PubMed  CAS  Google Scholar 

  • Fujiwaki R, Takahashi K, Kitao M (1996) Adenoma malignum of the uterine cervix associated with Peutz-Jeghers syndrome. Int J Gynaecol Obstet 53:171–172

    Article  PubMed  CAS  Google Scholar 

  • Fulcheri E, Baracchini P, Pagani A, Lapertosa G, Bussolati G (1991) Significance of the smooth muscle cell component in Peutz-Jeghers and juvenile polyps. Hum Pathol 22:1136–1140

    Article  PubMed  CAS  Google Scholar 

  • Gass JD, Glatzer RJ (1991) Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melanocytic proliferation. Br J Ophthalmol 75:693–695

    Article  PubMed  CAS  Google Scholar 

  • Giardiello FM, Offerhaus JG (1995) Phenotype and cancer risk of various polyposis syndromes. Eur J Cancer 31A:1085–1087

    Article  PubMed  CAS  Google Scholar 

  • Giardiello FM, Welsh SB, Hamilton SR et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514

    Article  PubMed  CAS  Google Scholar 

  • Giardiello FM, Brensinger JD, Tersmette A et al. (1999) Peutz-Jeghers syndrome and risk of cancer: ameta-analysis with recommendations for surveillance. Gastroenterology 116:A411

    Article  Google Scholar 

  • Gilks CB, Young RH, Aguirre P, DeLellis RA, Scully RE (1989) Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immunohistochemical analysis of 26 cases. Am J Surg Pathol 13:717–729

    Article  PubMed  CAS  Google Scholar 

  • Gloor E (1978) A case of Peutz-Jeghers syndrome combined with bilateral breast cancer, an adenocarcinoma of the cervix and ovarian genital cord neoplasms with annular tubules. Schweiz Med Wochenschr 108:717–721

    PubMed  CAS  Google Scholar 

  • Gruber SB, Entius MM, Petersen GM et al. (1998) Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 58:5267–5270

    PubMed  CAS  Google Scholar 

  • Guldberg P, Straten PT, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J (1999) Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. Oncogene 18:1777–1780

    Article  PubMed  CAS  Google Scholar 

  • Hanada K, Baba T, Sasaki C, Hashimoto I (1996) Successful treatment of mucosal melanosis of the lip with normal pulsed ruby laser. J Dermatol 23:263–266

    PubMed  CAS  Google Scholar 

  • Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241:42–52

    Article  PubMed  CAS  Google Scholar 

  • Hemminki A (1999) The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 55:735–750

    Article  PubMed  CAS  Google Scholar 

  • Hemminki A, Tomlinson I, Markie D et al. (1997) Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 15:87–90

    Article  PubMed  CAS  Google Scholar 

  • Hemminki A, Markie D, Tomlinson I et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184–187

    Article  PubMed  CAS  Google Scholar 

  • Hertl MC, Wiebel J, Schäfer H, Willig HP, Lambrecht W (1998) Feminizing Sertoli cell tumors associated with Peutz-Jeghers syndrome: an increasingly recognized cause of prepubertal gynecomastia. Plast Reconstr Surg 102:1151–1157

    Article  PubMed  CAS  Google Scholar 

  • Hizawa K, Iida M, Matsumoto T, Kohrogi N, Yao T, Fujishima M (1993) Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis Colon Rectum 36:953–957

    Article  PubMed  CAS  Google Scholar 

  • Hutchinson J (1896) Pigmentation of lips and mouth. In: Archives of surgery, vol VII. West Newman, London

    Google Scholar 

  • Ishida H, Murata N, Tada M, Takada S, Fujioka M, Idezuki Y (1999) A new simple technique for performing intraoperative endoscopic resection of small-bowel polyps in patients with Peutz-Jeghers syndrome. Surg Today 29:581–583

    Article  PubMed  CAS  Google Scholar 

  • Jeghers H, McKusick VA, Katz KH (1949) Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 241:993–1005

    Article  PubMed  CAS  Google Scholar 

  • Jenne DE, Zimmer M, Reimann H et al. (1996) Serine protease and other genes in a 1.5 Mbp cosmid contig on 19pter. Cytogenet Cell Genet 74:183–184

    Google Scholar 

  • Jenne DE, Reimann H, Nezu J et al. (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38–43

    Article  PubMed  CAS  Google Scholar 

  • Jungck M, Friedl W, Propping P (1999) Hereditary gastrointestinal tumors. Internist 40:502–512

    Article  PubMed  CAS  Google Scholar 

  • Kato S, Takeyama J, Tanita Y, Ebina K (1998) Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. Eur J Pediatr 157:622–624

    Article  PubMed  CAS  Google Scholar 

  • Keeling PW, Aston N, Anderson HJ (1977) Involution of mucocutaneous pigmentation of the Peutz-Jeghers syndrome. BMJ 1:949

    Article  PubMed  CAS  Google Scholar 

  • Keshtgar AS, Losty PD, Lloyd DA, Morris AI, Pierro A (1997) Recent developments in the management of Peutz-Jeghers syndrome in childhood. Eur J Pediatr Surg 7:367–368

    Article  PubMed  CAS  Google Scholar 

  • Klostermann G (1960) Pigmentfleckenpolypose. Thieme, Stuttgart

    Google Scholar 

  • Kortschak RD, Reimann H, Zimmer M, Eyre HJ, Saint R, Jenne DE (1998) The human dead ringer/bright homolog, DRILl: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19pl3.3 that is strictly linked to the Peutz-Jeghers syndrome. Genomics 51:288–292

    Article  PubMed  CAS  Google Scholar 

  • Kruse R, Uhlhaas S, Lamberti C et al. (1999) Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Hum Mutat 13:257–258

    Article  PubMed  CAS  Google Scholar 

  • Kyriakos M, Condon SC (1978) Enteritis cystica profunda. Am J Clin Pathol 69:77–85

    PubMed  CAS  Google Scholar 

  • Launonen V, Avizienyte E, Loukola A et al. (2000) No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas. Cancer Res 60:546–548

    PubMed  CAS  Google Scholar 

  • Lehur PA, Madarnas P, Devroede G, Perey BJ, Menard DB, Hamade N (1984) Peutz-Jeghers syndrome. Association of duodenal and bilateral breast cancers in the same patient. Dig Dis Sci 29:178–182

    Article  PubMed  CAS  Google Scholar 

  • Loff S, Wessel L, Wirth H, Manegold BC, Pilcher H, Waag KL (1995) Peutz-Jeghers syndrome. Cases at the Mannheim clinic over 25 years. Langenbecks Arch Chir 380:43–52

    Article  PubMed  CAS  Google Scholar 

  • Luukko K, Ylikorkala A, Tiainen M, Makela TP (1999) Expression of LKB1 and PTEN tumor suppressor genes during mouse embryonic development. Mech Dev 83:187–190

    Article  PubMed  CAS  Google Scholar 

  • Manegold BC, Bussmann JF, Furstenberg HS (1969) Clinical contribution to the Peutz-Jeghers syndrome with involvement of the gastrointestinal tract, the upper respiratory tract and both breasts. Med Welt 25:1435–1439

    PubMed  CAS  Google Scholar 

  • Markie D, Huson S, Maher E, Davies A, Tomlinson I, Bodmer WF (1996) A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. Hum Genet 98:125–128

    Article  PubMed  CAS  Google Scholar 

  • Marsh DJ, Roth S, Lunetta KL et al. (1997) Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 57:5017–5021

    PubMed  CAS  Google Scholar 

  • Martin-Odegard B, Svane S (1994) Peutz-Jeghers syndrome associated with bilateral synchronous breast carcinoma in a 30-year-old woman. Eur J Surg 160:511–512

    PubMed  CAS  Google Scholar 

  • McGarrity TJ, Peiffer LP, Billingsley ML (1999) Overexpression of epidermal growth factor receptor in Peutz-Jeghers syndrome. Dig Dis Sci 44:1136–1141

    Article  PubMed  CAS  Google Scholar 

  • McGarrity TJ, Kulin HE, Zaino RJ (2000) Peutz-Jeghers syndrome. Am J Gastroenterol 95:596–604

    Article  PubMed  CAS  Google Scholar 

  • Mehenni H, Blouin JL, Radhakrishna U et al. (1997) Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19pl3.3 and identification of a potential second locus, on 19ql3.4. Am J Hum Genet 61:1327–1334

    Article  PubMed  CAS  Google Scholar 

  • Mehenni H, Gehrig C, Nezu J et al. (1998) Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet 63:1641–1650

    Article  PubMed  CAS  Google Scholar 

  • Nakagawa H, Koyama K, Miyoshi Y et al. (1998a) Nine novel germline mutations of STK 11 in ten families with Peutz-Jeghers syndrome. Hum Genet 103:168–172

    Article  PubMed  CAS  Google Scholar 

  • Nakagawa H, Koyama K, Tanaka T et al. (1998b) Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19pl3.3. Hum Genet 102:203–206

    Article  PubMed  CAS  Google Scholar 

  • Nakagawa H, Koyama K, Nakamori S et al. (1999) Frameshift mutation of the STK 11 gene in a sporadic gastrointestinal cancer with microsatellite instability. Jpn J Cancer Res 90:633–637

    Article  PubMed  CAS  Google Scholar 

  • Nezu J, Oku A, Shimane M (1999) Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. Biochem Biophys Res Commun 261:750–755

    Article  PubMed  CAS  Google Scholar 

  • Niewenhuis JC, Wolf MC, Kass EJ (1994) Bilateral asynchronous Sertoli cell tumor in a boy with the Peutz-Jeghers syndrome. J Urol 152:1246–1248

    PubMed  CAS  Google Scholar 

  • Olschwang S, Markie D, Seal S et al. (1998a) Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19pl3.3. J Med Genet 35:42–44

    Article  PubMed  CAS  Google Scholar 

  • Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G (1998b) PTEN germ-line mutations in juvenile polyposis coli. Nat Genet 18:12–14

    Article  PubMed  CAS  Google Scholar 

  • Park WS, Moon YW, Yang YM et al. (1998) Mutations of the STK 11 gene in sporadic gastric carcinoma. Int J Oncol 13:601–604

    PubMed  CAS  Google Scholar 

  • Pauwels M, Delcenserie R, Yzet T, Duchmann JC, Capron JP (1997) Pancreatic cystadenocarcinoma in Peutz-Jeghers syndrome. J Clin Gastroenterol 25:485–486

    Article  PubMed  CAS  Google Scholar 

  • Pennazio M, Rossini FP (2000) Small bowel polyps in Peutz-Jeghers syndrome: management by combined push en-teroscopy and intraoperative enteroscopy. Gastrointest Endosc 51:304–308

    Article  PubMed  CAS  Google Scholar 

  • Perzin KH, Bridge MF (1982) Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome): report of a case and review of the literature. Cancer 49:971–983

    Article  PubMed  CAS  Google Scholar 

  • Petersen VC, Sheehan AL, Bryan RL, Armstrong CP, Shepherd NA (2000) Misplacement of dysplastic epithelium in Peutz-Jeghers polyps: the ultimate diagnostic pitfall? Am J Surg Pathol 24:34–39

    Article  PubMed  CAS  Google Scholar 

  • Peutz JLA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr v Gen 10:134–146

    Google Scholar 

  • Pilat D, Fink T, Obermaier-Skrobanek B et al. (1994) The human Met-ase gene (GZMM): structure, sequence, and close physical linkage to the serine protease gene cluster on 19pl3.3. Genomics 24:445–450

    Article  PubMed  CAS  Google Scholar 

  • Ransohoff DF, Lang CA (1991) Screening for colorectal cancer. N Engl J Med 325:37–41

    Article  PubMed  CAS  Google Scholar 

  • Rebsdorf-Pedersen I, Hartvigsen A, Fischer-Hansen B, Toftgaard C, Konstantin-Hansen K, Bullow S (1994) Management of Peutz-Jeghers syndrome. Experience with patients from the Danish Polyposis Register. Int J Colorectal Dis 9:177–179

    Article  PubMed  CAS  Google Scholar 

  • Reid JD (1974) Intestinal carcinoma in the Peutz-Jeghers syndrome. JAMA 229:833–834

    Article  PubMed  CAS  Google Scholar 

  • Resta N, Simone C, Mareni C et al. (1998) STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res 58:4799–4801

    PubMed  CAS  Google Scholar 

  • Rex DK, Alikhan M, Cummings O, Ulbright TM (1999) Accuracy of pathologic interpretation of colorectal polyps by general pathologists in community practice. Gastrointest Endosc 50:468–474

    Article  PubMed  CAS  Google Scholar 

  • Riley E, Swift M (1980) A family with Peutz-Jeghers syndrome and bilateral breast cancer. Cancer 46:815–817

    Article  PubMed  CAS  Google Scholar 

  • Ros P, Nistal M, Alonso M, Calvo de Mora J, Yturriaga R, Barrio R (1999) Sertoli cell tumour in a boy with Peutz-Jeghers syndrome. Histopathology 34:84–86

    Article  PubMed  CAS  Google Scholar 

  • Rossini FP, Pennazio M (1996) Enteroscopy and Peutz Jeghers syndrome. Am J Gastroenterol 91:2252–2253

    PubMed  CAS  Google Scholar 

  • Rowan A, Bataille V, MacKie R et al. (1999) Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol 112:509–511

    Article  PubMed  CAS  Google Scholar 

  • Scully RE (1970) Sex cord tumor with annular tubules, a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 25:1107–1121

    Google Scholar 

  • Sebiger R (1979) Zur Klinik, pathologischen Anatomie und Genetik der Pigmentfleckenpolypose (Peutz-Jeghers-Syndrom): zusammenfassender Bericht über die in den Jahren 1960–1976 erfolgten Veröffentlichungen. Hochschulschrift, Universität Erlangen-Nürnberg

    Google Scholar 

  • Seidman JD (1994) Mucinous lesions of the fallopian tube. A report of seven cases. Am J Surg Pathol 18:1205–1212

    Article  PubMed  CAS  Google Scholar 

  • Shen K, Wu PC, Lang JH, Huang RL, Tang MT, Lian LJ (1993) Ovarian sex cord tumor with annular tubules: a report of six cases. Gynecol Oncol 48:180–184

    Article  PubMed  CAS  Google Scholar 

  • Shepherd NA, Bussey HJ, Jass JR (1987) Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am J Surg Pathol 11:743–749

    Article  PubMed  CAS  Google Scholar 

  • Smith DP, Spicer J, Smith A, Swift S, Ashworth A (1999) The mouse Peutz-Jeghers syndrome gene Lkbl encodes a nuclear protein kinase. Hum Mol Genet 8:1479–1485

    Article  PubMed  CAS  Google Scholar 

  • Solh HM, Azoury RS, Najjar SS (1983) Peutz-Jeghers syndrome associated with precocious puberty. J Pediatr 103:593–595

    Article  PubMed  CAS  Google Scholar 

  • Spigelman AD, Phillips RK (1989) Management of the Peutz-Jeghers patient. J R Soc Med 82:681

    PubMed  CAS  Google Scholar 

  • Spigelman AD, Murday V, Phillips RK (1989) Cancer and the Peutz-Jeghers syndrome. Gut 30:1588–1590

    Article  PubMed  CAS  Google Scholar 

  • Spigelman AD, Arese P, Phillips RK (1995) Polyposis: the Peutz-Jeghers syndrome. Br J Surg 82:1311–1314

    Article  PubMed  CAS  Google Scholar 

  • Srivatsa PJ, Keeney GL, Podratz KC (1994) Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. Gynecol Oncol 53:256–264

    Article  PubMed  CAS  Google Scholar 

  • Stefan H (1967) Oral melanin pigmentation and recurrent intussusception, caused by small intestine polyps (Peutz-Jeghers syndrome). Zentralbl Chir 92:109–112

    PubMed  CAS  Google Scholar 

  • Stratakis CA, Carney JA, Lin JP et al. (1996) Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 97:699–705

    Article  PubMed  CAS  Google Scholar 

  • Stratakis CA, Kirschner LS, Taymans SE et al. (1998) Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab 83:2972–2976

    Article  PubMed  CAS  Google Scholar 

  • Su JY, Erikson E, Mailer JL (1996) Cloning and characterization of a novel serine/threonine protein kinase expressed in early Xenopus embryos. J Biol Chem 271:14.430–14.437

    Google Scholar 

  • Su GH, Hruban RH, Bansal RK et al. (1999) Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers. Am J Pathol 154:1835–1840

    Article  PubMed  CAS  Google Scholar 

  • Thatcher BS, May ES, Taxier MS, Bontà JA, Murthy L (1986) Pancreatic adenocarcinoma in a patient with Peutz-Jeghers syndrome — a case report and literature review. Am J Gastroenterol 81:594–597

    PubMed  CAS  Google Scholar 

  • Tiainen M, Ylikorkala A, Makela TP (1999) Growth suppression by Lkbl is mediated by a G(l) cell cycle arrest. Proc Natl Acad Sci USA 96:9248–9251

    Article  PubMed  CAS  Google Scholar 

  • Tomlinson IP, Houlston RS (1997) Peutz-Jeghers syndrome. J Med Genet 34:1007–1011

    Article  PubMed  CAS  Google Scholar 

  • Tomlinson IP, Olschwang S, Abelovitch D et al. (1996) Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers disease. Ann Hum Genet 60:377–384

    Article  PubMed  CAS  Google Scholar 

  • Touraine A, Couder F (1946) Lentiginose peri-orificielle et polypöse viscerale. Presse Med 54:405

    PubMed  CAS  Google Scholar 

  • Trau H (1982) The „Hutchinson twins“. Am J Dermatopathol 4:223–224

    Article  PubMed  CAS  Google Scholar 

  • Trau H, Schewach-Millet M, Fisher BK, Tsur H (1982) Peutz-Jeghers syndrome and bilateral breast carcinoma. Cancer 50:788–792

    Article  PubMed  CAS  Google Scholar 

  • Trojan J, Brieger A, Raedle J, Roth WK, Zeuzem S (1999) Peutz-Jeghers syndrome: molecular analysis of a threegeneration kindred with a novel defect in the serine threonine kinase gene STK11. Am J Gastroenterol 94:257–261

    Article  PubMed  CAS  Google Scholar 

  • Tsuruchi N, Tsukamoto N, Kaku T, Kamura T, Nakano H (1994) Adenoma malignum of the uterine cervix detected by imaging methods in a patient with Peutz-Jeghers syndrome. Gynecol Oncol 54:232–236

    Article  PubMed  CAS  Google Scholar 

  • Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 136:71–82

    PubMed  CAS  Google Scholar 

  • Voigt JJ, Maraval D (1984) Intraductal breast papilloma with squamous metaplasia in Peutz-Jeghers syndrome. Hum Pathol 15:1194–1195

    Article  PubMed  CAS  Google Scholar 

  • Von Hochstetter AR, Ess D, Bannwart F, Buhler H (1987) Adenocarcinoma of the cervix in Peutz-Jeghers syndrome. Case report and review of the literature. Schweiz Med Wochenschr 117:1910–1914

    Google Scholar 

  • Wang ZJ, Churchman M, Avizienyte E et al. (1999 a) Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. J Med Genet 36:365–368

    PubMed  CAS  Google Scholar 

  • Wang ZJ, Churchman M, Campbell IG et al. (1999b) Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19pl3.3) in sporadic ovarian tumours. Br J Cancer 80:70–72

    Article  PubMed  CAS  Google Scholar 

  • Wang ZJ, Ellis I, Zauber P et al. (1999c) Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence. J Pathol 188:9–13

    Article  PubMed  CAS  Google Scholar 

  • Watts JL, Morton DG, Bestman J, Kemphues KJ (2000) The C. elegans par-4 gene encodes a putative serine-threonine kinase required for establishing embryonic asymmetry. Development 127:1467–1475

    PubMed  CAS  Google Scholar 

  • Weber FP (1949) Patches of deep pigmentation of oral mucous membrane not connected with Addison’s disease. QJM 12:404–408

    Google Scholar 

  • Westerman AM, Wilson JH (1999) Peutz-Jeghers syndrome: risks of a hereditary condition. Scand J Gastroenterol Suppl 230:64–70

    PubMed  CAS  Google Scholar 

  • Westerman AM, Velthuysen ML van, Bac DJ, Schouten WR, Wilson JH (1997) Malignancy in Peutz-Jeghers syndrome? The pitfall of pseudo-invasion. J Clin Gastroenterol 25:387–390

    Article  PubMed  CAS  Google Scholar 

  • Westerman AM, Entius MM, Boor PP et al. (1999 a) Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. Hum Mutat 13:476–481

    Article  PubMed  CAS  Google Scholar 

  • Westerman AM, Entius MM, Baar E de et al. (1999 b) Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet 353:1211–1215

    Article  PubMed  CAS  Google Scholar 

  • Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG (1986) Testicular tumors with Peutz-Jeghers syndrome. Cancer 57:2238–2240

    Article  PubMed  CAS  Google Scholar 

  • Woodford-Richens K, Bevan S, Churchman M et al. (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46:656–660

    Article  PubMed  CAS  Google Scholar 

  • Yagmurdur MC, Daphan C, Özdemir A, Ozenc A, Bayraktar Y, Uzunalimoglu B (1998) The usefulness of intra-operative endoscopy in Peutz-Jeghers syndrome: a case report. Hepatogastroenterology 45:2175–2178

    PubMed  CAS  Google Scholar 

  • Yamada K, Matsukawa A, Hori Y, Kukita A (1981) Ultrastructural studies on pigmented macules of Peutz-Jeghers syndrome. J Dermatol 8:367–377

    PubMed  CAS  Google Scholar 

  • Yamamoto M, Hoshino H, Onizuka T, Ichikawa M, Kawakubo A, Hayakawa S (1992) Thyroid papillary adenocarcinoma in a woman with Peutz-Jeghers syndrome. Intern Med 31:1117–1119

    Article  PubMed  CAS  Google Scholar 

  • Ylikorkala A, Avizienyte E, Tomlinson IP et al. (1999) Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 8:45–51

    Article  PubMed  CAS  Google Scholar 

  • Yoon KA, Ku JL, Choi HS et al. (2000) Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients. Br J Cancer 82:1403–1406

    PubMed  CAS  Google Scholar 

  • Young RH, Scully RE (1988) Mucinous ovarian tumors associated with mucinous adenocarcinomas of the cervix. A clinicopathological analysis of 16 cases. Int J Gynecol Pathol 7:99–111

    Article  PubMed  CAS  Google Scholar 

  • Young RH, Welch WR, Dickersin GR, Scully RE (1982) Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer 50:1384–1402

    Article  PubMed  CAS  Google Scholar 

  • Young RH, Dickersin GR, Scully RE (1983) A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the Peutz-Jeghers syndrome. Am J Surg Pathol 7:233–243

    Article  PubMed  CAS  Google Scholar 

  • Young S, Gooneratne S, Straus FH, Zeller WP, Bulun SE, Rosenthal IM (1995) Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. Am J Surg Pathol 19:50–58

    Article  PubMed  CAS  Google Scholar 

  • Zung A, Shoham Z, Open M, Altman Y, Dgani R, Zadik Z (1998) Sertoli cell tumor causing precocious puberty in a girl with Peutz-Jeghers syndrome. Gynecol Oncol 70:421–424

    Article  PubMed  CAS  Google Scholar 

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  1. Abteilung für Neuroimmunologie, Max-Planck-Institut für Neurobiologie, Am Klopferspitz 18A, 82152, Martinsried

    Dr. Dieter E. Jenne

  2. The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, UK

    Michael Zimmer

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  2. Medizinische Universitätsklinik, Knappschaftskrankenhaus, In der Schornau 23-25, 44892, Bochum-Langendreer

    Stephan A. Hahn  & Wolff Schmiegel  & 

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Jenne, D.E., Zimmer, M. (2001). Peutz-Jeghers-Syndrom. In: Ganten, D., Ruckpaul, K., Hahn, S.A., Schmiegel, W. (eds) Molekularmedizinische Grundlagen von hereditären Tumorerkrankungen. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56889-3_13

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