Advertisement

Peutz-Jeghers-Syndrom

  • Dieter E. Jenne
  • Michael Zimmer
Part of the Molekulare Medizin book series (MOLMED)

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).

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. Ahn GH, Chi JG, Lee SK (1986) Ovarian sex cord tumor with annular tubules. Cancer 57:1066–1073PubMedCrossRefGoogle Scholar
  2. Amos CI, Bali D, Thiel TJ et al. (1997) Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. Cancer Res 57:3653–3656PubMedGoogle Scholar
  3. Astengo-Osuna C (1984) Ovarian sex-cord tumor with annular tubules. Case report with ultrastructural findings. Cancer 54:1070–1075PubMedCrossRefGoogle Scholar
  4. Avizienyte E, Roth S, Loukola A et al. (1998) Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res 58:2087–2090PubMedGoogle Scholar
  5. Avizienyte E, Loukola A, Roth S et al. (1999) LKB1 somatic mutations in sporadic tumors. Am J Pathol 154:677–681PubMedCrossRefGoogle Scholar
  6. 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 52:345–349PubMedCrossRefGoogle Scholar
  7. 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:A186Google Scholar
  8. 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 32:434–451PubMedGoogle Scholar
  9. 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 26:441–452PubMedCrossRefGoogle Scholar
  10. 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 58:1384–1386PubMedGoogle Scholar
  11. Boardman LA, Thibodeau SN, Schaid DJ et al. (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899PubMedGoogle Scholar
  12. Boardman LA, Couch FJ, Burgart LJ et al. (2000) Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 16:23–30PubMedCrossRefGoogle Scholar
  13. Bowlby LS (1986) Pancreatic adenocarcinoma in an adolescent male with Peutz-Jeghers syndrome. Hum Pathol 17:97–99PubMedCrossRefGoogle Scholar
  14. Brand E (1992) Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum. Gynecol Oncol 45:334–335PubMedCrossRefGoogle Scholar
  15. Bruwer A, Bargen JA, Kierland RR (1954) Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin 29:168PubMedGoogle Scholar
  16. Bundesärztekammer (1998) Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Arztebl 95:1396–1403Google Scholar
  17. Burdick D, Prior JT (1982) Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year fol-low-up. Cancer 50:2139–2146PubMedCrossRefGoogle Scholar
  18. Burke AP, Sobin LH (1989) The pathology of Cronkhite-Canada polyps. A comparison to juvenile polyposis. Am J Surg Pathol 13:940–946PubMedCrossRefGoogle Scholar
  19. 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 49:462–466PubMedCrossRefGoogle Scholar
  20. Cantu JM, Rivera H, Ocampo-Campos R et al. (1980) Peutz-Jeghers syndrome with feminizing Sertoli cell tumor. Cancer 46:223–228PubMedCrossRefGoogle Scholar
  21. Chen KT (1986) Female genital tract tumors in Peutz-Jeghers syndrome. Hum Pathol 17:858–861PubMedCrossRefGoogle Scholar
  22. Chen J, Lindblom A (2000) Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p. Clin Genet 57:394–397PubMedCrossRefGoogle Scholar
  23. 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 17:819–821PubMedCrossRefGoogle Scholar
  24. Christian CD (1971) Ovarian tumors: an extension of the Peutz-Jeghers syndrome. Am J Obstet Gynecol 111:529–534PubMedGoogle Scholar
  25. Christian CD, McLoughlin TG, Cathcart ER, Eisenberg MM (1964) Peutz-Jeghers syndrome associated with functioning ovarian tumor. JAMA 190:935–938PubMedCrossRefGoogle Scholar
  26. 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 345:673–680PubMedCrossRefGoogle Scholar
  27. 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 156:339–345PubMedCrossRefGoogle Scholar
  28. Connor JT (1895) Aesculapian society of London. Lancet 2:11–69Google Scholar
  29. Corley DA, Uyeki TM, Cello JP (1997) Gastrointestinal bleeding and gastric outlet obstruction from Peutz-Jeghers polyposis. Diagnosis and treatment. West J Med 166:350–352PubMedGoogle Scholar
  30. 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 8:17–20PubMedCrossRefGoogle Scholar
  31. DePadova-Elder SM, Milgraum SS (1994) Q-switched ruby laser treatment of labial lentigines in Peutz-Jeghers syndrome. J Dermatol Surg Oncol 20:830–832PubMedGoogle Scholar
  32. 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 30:192–198PubMedCrossRefGoogle Scholar
  33. 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 58:3787–3790PubMedGoogle Scholar
  34. 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 98:509–517PubMedCrossRefGoogle Scholar
  35. Dozois RR, Kempers RD, Dahlin DC, Bartholomeew LG (1970) Ovarian tumors associated with the Peutz-Jeghers syndrome. Ann Surg 172:233–238PubMedCrossRefGoogle Scholar
  36. Dozois RR, Dahlin DC, Bartholomew LG (1973) Ovarian tumors associated with the Peutz-Jeghers syndrome. Prog Clin Cancer 5:187–193PubMedGoogle Scholar
  37. 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 11:335–337PubMedCrossRefGoogle Scholar
  38. 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 101:568–571PubMedCrossRefGoogle Scholar
  39. Eng C, Ji H (1998) Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters (editorial). Am J Hum Genet 62:1020–1022PubMedCrossRefGoogle Scholar
  40. Esteller M, Avizienyte E, Corn PG et al. (2000) Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene 19:164–168PubMedCrossRefGoogle Scholar
  41. 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 4:219–229PubMedCrossRefGoogle Scholar
  42. 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 37:231–236PubMedGoogle Scholar
  43. Fujita S, Kusunoki M, Sakanoue Y, Yamamura T, Utsunomiya J (1990) Preoperative endoscopy in Peutz-Jeghers syndrome. Lancet 335:415–416PubMedCrossRefGoogle Scholar
  44. Fujiwaki R, Takahashi K, Kitao M (1996) Adenoma malignum of the uterine cervix associated with Peutz-Jeghers syndrome. Int J Gynaecol Obstet 53:171–172PubMedCrossRefGoogle Scholar
  45. 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 22:1136–1140PubMedCrossRefGoogle Scholar
  46. Gass JD, Glatzer RJ (1991) Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melanocytic proliferation. Br J Ophthalmol 75:693–695PubMedCrossRefGoogle Scholar
  47. Giardiello FM, Offerhaus JG (1995) Phenotype and cancer risk of various polyposis syndromes. Eur J Cancer 31A:1085–1087PubMedCrossRefGoogle Scholar
  48. Giardiello FM, Welsh SB, Hamilton SR et al. (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514PubMedCrossRefGoogle Scholar
  49. Giardiello FM, Brensinger JD, Tersmette A et al. (1999) Peutz-Jeghers syndrome and risk of cancer: ameta-analysis with recommendations for surveillance. Gastroenterology 116:A411CrossRefGoogle Scholar
  50. 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 13:717–729PubMedCrossRefGoogle Scholar
  51. 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 108:717–721PubMedGoogle Scholar
  52. Gruber SB, Entius MM, Petersen GM et al. (1998) Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 58:5267–5270PubMedGoogle Scholar
  53. 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 18:1777–1780PubMedCrossRefGoogle Scholar
  54. Hanada K, Baba T, Sasaki C, Hashimoto I (1996) Successful treatment of mucosal melanosis of the lip with normal pulsed ruby laser. J Dermatol 23:263–266PubMedGoogle Scholar
  55. Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241:42–52PubMedCrossRefGoogle Scholar
  56. Hemminki A (1999) The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 55:735–750PubMedCrossRefGoogle Scholar
  57. 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 15:87–90PubMedCrossRefGoogle Scholar
  58. Hemminki A, Markie D, Tomlinson I et al. (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184–187PubMedCrossRefGoogle Scholar
  59. 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 102:1151–1157PubMedCrossRefGoogle Scholar
  60. Hizawa K, Iida M, Matsumoto T, Kohrogi N, Yao T, Fujishima M (1993) Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis Colon Rectum 36:953–957PubMedCrossRefGoogle Scholar
  61. Hutchinson J (1896) Pigmentation of lips and mouth. In: Archives of surgery, vol VII. West Newman, LondonGoogle Scholar
  62. 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 29:581–583PubMedCrossRefGoogle Scholar
  63. 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 241:993–1005PubMedCrossRefGoogle Scholar
  64. 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 74:183–184Google Scholar
  65. Jenne DE, Reimann H, Nezu J et al. (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38–43PubMedCrossRefGoogle Scholar
  66. Jungck M, Friedl W, Propping P (1999) Hereditary gastrointestinal tumors. Internist 40:502–512PubMedCrossRefGoogle Scholar
  67. Kato S, Takeyama J, Tanita Y, Ebina K (1998) Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. Eur J Pediatr 157:622–624PubMedCrossRefGoogle Scholar
  68. Keeling PW, Aston N, Anderson HJ (1977) Involution of mucocutaneous pigmentation of the Peutz-Jeghers syndrome. BMJ 1:949PubMedCrossRefGoogle Scholar
  69. 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 7:367–368PubMedCrossRefGoogle Scholar
  70. Klostermann G (1960) Pigmentfleckenpolypose. Thieme, StuttgartGoogle Scholar
  71. 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 51:288–292PubMedCrossRefGoogle Scholar
  72. Kruse R, Uhlhaas S, Lamberti C et al. (1999) Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Hum Mutat 13:257–258PubMedCrossRefGoogle Scholar
  73. Kyriakos M, Condon SC (1978) Enteritis cystica profunda. Am J Clin Pathol 69:77–85PubMedGoogle Scholar
  74. 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 60:546–548PubMedGoogle Scholar
  75. 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 29:178–182PubMedCrossRefGoogle Scholar
  76. 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 380:43–52PubMedCrossRefGoogle Scholar
  77. Luukko K, Ylikorkala A, Tiainen M, Makela TP (1999) Expression of LKB1 and PTEN tumor suppressor genes during mouse embryonic development. Mech Dev 83:187–190PubMedCrossRefGoogle Scholar
  78. 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 25:1435–1439PubMedGoogle Scholar
  79. 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 98:125–128PubMedCrossRefGoogle Scholar
  80. 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 57:5017–5021PubMedGoogle Scholar
  81. Martin-Odegard B, Svane S (1994) Peutz-Jeghers syndrome associated with bilateral synchronous breast carcinoma in a 30-year-old woman. Eur J Surg 160:511–512PubMedGoogle Scholar
  82. McGarrity TJ, Peiffer LP, Billingsley ML (1999) Overexpression of epidermal growth factor receptor in Peutz-Jeghers syndrome. Dig Dis Sci 44:1136–1141PubMedCrossRefGoogle Scholar
  83. McGarrity TJ, Kulin HE, Zaino RJ (2000) Peutz-Jeghers syndrome. Am J Gastroenterol 95:596–604PubMedCrossRefGoogle Scholar
  84. 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 61:1327–1334PubMedCrossRefGoogle Scholar
  85. 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 63:1641–1650PubMedCrossRefGoogle Scholar
  86. 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 103:168–172PubMedCrossRefGoogle Scholar
  87. 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 102:203–206PubMedCrossRefGoogle Scholar
  88. 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 90:633–637PubMedCrossRefGoogle Scholar
  89. 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 261:750–755PubMedCrossRefGoogle Scholar
  90. Niewenhuis JC, Wolf MC, Kass EJ (1994) Bilateral asynchronous Sertoli cell tumor in a boy with the Peutz-Jeghers syndrome. J Urol 152:1246–1248PubMedGoogle Scholar
  91. 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 35:42–44PubMedCrossRefGoogle Scholar
  92. Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G (1998b) PTEN germ-line mutations in juvenile polyposis coli. Nat Genet 18:12–14PubMedCrossRefGoogle Scholar
  93. Park WS, Moon YW, Yang YM et al. (1998) Mutations of the STK 11 gene in sporadic gastric carcinoma. Int J Oncol 13:601–604PubMedGoogle Scholar
  94. Pauwels M, Delcenserie R, Yzet T, Duchmann JC, Capron JP (1997) Pancreatic cystadenocarcinoma in Peutz-Jeghers syndrome. J Clin Gastroenterol 25:485–486PubMedCrossRefGoogle Scholar
  95. Pennazio M, Rossini FP (2000) Small bowel polyps in Peutz-Jeghers syndrome: management by combined push en-teroscopy and intraoperative enteroscopy. Gastrointest Endosc 51:304–308PubMedCrossRefGoogle Scholar
  96. 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 49:971–983PubMedCrossRefGoogle Scholar
  97. 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 24:34–39PubMedCrossRefGoogle Scholar
  98. 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 10:134–146Google Scholar
  99. 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 24:445–450PubMedCrossRefGoogle Scholar
  100. Ransohoff DF, Lang CA (1991) Screening for colorectal cancer. N Engl J Med 325:37–41PubMedCrossRefGoogle Scholar
  101. 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 9:177–179PubMedCrossRefGoogle Scholar
  102. Reid JD (1974) Intestinal carcinoma in the Peutz-Jeghers syndrome. JAMA 229:833–834PubMedCrossRefGoogle Scholar
  103. Resta N, Simone C, Mareni C et al. (1998) STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res 58:4799–4801PubMedGoogle Scholar
  104. Rex DK, Alikhan M, Cummings O, Ulbright TM (1999) Accuracy of pathologic interpretation of colorectal polyps by general pathologists in community practice. Gastrointest Endosc 50:468–474PubMedCrossRefGoogle Scholar
  105. Riley E, Swift M (1980) A family with Peutz-Jeghers syndrome and bilateral breast cancer. Cancer 46:815–817PubMedCrossRefGoogle Scholar
  106. 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 34:84–86PubMedCrossRefGoogle Scholar
  107. Rossini FP, Pennazio M (1996) Enteroscopy and Peutz Jeghers syndrome. Am J Gastroenterol 91:2252–2253PubMedGoogle Scholar
  108. 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 112:509–511PubMedCrossRefGoogle Scholar
  109. Scully RE (1970) Sex cord tumor with annular tubules, a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 25:1107–1121Google Scholar
  110. 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-NürnbergGoogle Scholar
  111. Seidman JD (1994) Mucinous lesions of the fallopian tube. A report of seven cases. Am J Surg Pathol 18:1205–1212PubMedCrossRefGoogle Scholar
  112. 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 48:180–184PubMedCrossRefGoogle Scholar
  113. Shepherd NA, Bussey HJ, Jass JR (1987) Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am J Surg Pathol 11:743–749PubMedCrossRefGoogle Scholar
  114. 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 8:1479–1485PubMedCrossRefGoogle Scholar
  115. Solh HM, Azoury RS, Najjar SS (1983) Peutz-Jeghers syndrome associated with precocious puberty. J Pediatr 103:593–595PubMedCrossRefGoogle Scholar
  116. Spigelman AD, Phillips RK (1989) Management of the Peutz-Jeghers patient. J R Soc Med 82:681PubMedGoogle Scholar
  117. Spigelman AD, Murday V, Phillips RK (1989) Cancer and the Peutz-Jeghers syndrome. Gut 30:1588–1590PubMedCrossRefGoogle Scholar
  118. Spigelman AD, Arese P, Phillips RK (1995) Polyposis: the Peutz-Jeghers syndrome. Br J Surg 82:1311–1314PubMedCrossRefGoogle Scholar
  119. 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 53:256–264PubMedCrossRefGoogle Scholar
  120. Stefan H (1967) Oral melanin pigmentation and recurrent intussusception, caused by small intestine polyps (Peutz-Jeghers syndrome). Zentralbl Chir 92:109–112PubMedGoogle Scholar
  121. 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 97:699–705PubMedCrossRefGoogle Scholar
  122. 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 83:2972–2976PubMedCrossRefGoogle Scholar
  123. 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 271:14.430–14.437Google Scholar
  124. 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 154:1835–1840PubMedCrossRefGoogle Scholar
  125. 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 81:594–597PubMedGoogle Scholar
  126. 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 96:9248–9251PubMedCrossRefGoogle Scholar
  127. Tomlinson IP, Houlston RS (1997) Peutz-Jeghers syndrome. J Med Genet 34:1007–1011PubMedCrossRefGoogle Scholar
  128. 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 60:377–384PubMedCrossRefGoogle Scholar
  129. Touraine A, Couder F (1946) Lentiginose peri-orificielle et polypöse viscerale. Presse Med 54:405PubMedGoogle Scholar
  130. Trau H (1982) The „Hutchinson twins“. Am J Dermatopathol 4:223–224PubMedCrossRefGoogle Scholar
  131. Trau H, Schewach-Millet M, Fisher BK, Tsur H (1982) Peutz-Jeghers syndrome and bilateral breast carcinoma. Cancer 50:788–792PubMedCrossRefGoogle Scholar
  132. 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 94:257–261PubMedCrossRefGoogle Scholar
  133. 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 54:232–236PubMedCrossRefGoogle Scholar
  134. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 136:71–82PubMedGoogle Scholar
  135. Voigt JJ, Maraval D (1984) Intraductal breast papilloma with squamous metaplasia in Peutz-Jeghers syndrome. Hum Pathol 15:1194–1195PubMedCrossRefGoogle Scholar
  136. 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 117:1910–1914Google Scholar
  137. Wang ZJ, Churchman M, Avizienyte E et al. (1999 a) Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. J Med Genet 36:365–368PubMedGoogle Scholar
  138. 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 80:70–72PubMedCrossRefGoogle Scholar
  139. 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 188:9–13PubMedCrossRefGoogle Scholar
  140. 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 127:1467–1475PubMedGoogle Scholar
  141. Weber FP (1949) Patches of deep pigmentation of oral mucous membrane not connected with Addison’s disease. QJM 12:404–408Google Scholar
  142. Westerman AM, Wilson JH (1999) Peutz-Jeghers syndrome: risks of a hereditary condition. Scand J Gastroenterol Suppl 230:64–70PubMedGoogle Scholar
  143. 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 25:387–390PubMedCrossRefGoogle Scholar
  144. Westerman AM, Entius MM, Boor PP et al. (1999 a) Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. Hum Mutat 13:476–481PubMedCrossRefGoogle Scholar
  145. Westerman AM, Entius MM, Baar E de et al. (1999 b) Peutz-Jeghers syndrome: 78-year follow-up of the original family. Lancet 353:1211–1215PubMedCrossRefGoogle Scholar
  146. Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG (1986) Testicular tumors with Peutz-Jeghers syndrome. Cancer 57:2238–2240PubMedCrossRefGoogle Scholar
  147. Woodford-Richens K, Bevan S, Churchman M et al. (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46:656–660PubMedCrossRefGoogle Scholar
  148. 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 45:2175–2178PubMedGoogle Scholar
  149. Yamada K, Matsukawa A, Hori Y, Kukita A (1981) Ultrastructural studies on pigmented macules of Peutz-Jeghers syndrome. J Dermatol 8:367–377PubMedGoogle Scholar
  150. 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 31:1117–1119PubMedCrossRefGoogle Scholar
  151. 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 8:45–51PubMedCrossRefGoogle Scholar
  152. Yoon KA, Ku JL, Choi HS et al. (2000) Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients. Br J Cancer 82:1403–1406PubMedGoogle Scholar
  153. 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 7:99–111PubMedCrossRefGoogle Scholar
  154. 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 50:1384–1402PubMedCrossRefGoogle Scholar
  155. 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 7:233–243PubMedCrossRefGoogle Scholar
  156. 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 19:50–58PubMedCrossRefGoogle Scholar
  157. 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 70:421–424PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2001

Authors and Affiliations

  • Dieter E. Jenne
    • 1
  • Michael Zimmer
    • 2
  1. 1.Abteilung für NeuroimmunologieMax-Planck-Institut für NeurobiologieMartinsried
  2. 2.The Wellcome Trust Centre for Human GeneticsOxfordUK

Personalised recommendations