Familial Cancer

, Volume 8, Issue 2, pp 95–101 | Cite as

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

  • Jason D. Fraser
  • Steven E. Briggs
  • Shawn D. St. Peter
  • Giovanni De Petris
  • Jacques Heppell


Peutz–Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz–Jeghers syndrome to portray illuminating features of the syndrome and review the literature.


Peutz–Jeghers syndrome Polyposis syndromes Intussusception 


  1. 1.
    Lindor NM, Greene MH (1998) The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 90(14):1039–1071. doi: 10.1093/jnci/90.14.1039 PubMedCrossRefGoogle Scholar
  2. 2.
    Peutz LJA (1921) Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentation of skin and mucous membrane. Nederl Maandische v Geneesk 10:134–146Google Scholar
  3. 3.
    Bartholomew LF, 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 332:434–451Google Scholar
  4. 4.
    Dormandy TL (1957) Gastrointestinal polyposis with mucutaneous pigmentation (Peutz-Jeghers syndrome). N Engl J Med 256:1186–1190PubMedGoogle Scholar
  5. 5.
    Brocheriou C, Kuffer R, Verola O (1985) Pigmented lesions of the oral cavity. Ann Pathol 5(4–5):221–229PubMedGoogle Scholar
  6. 6.
    Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, Bodmer W et al (1999) Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol 112(4):509–511. doi: 10.1046/j.1523-1747.1999.00551.x PubMedCrossRefGoogle Scholar
  7. 7.
    DePadova-Elder SM, Milgraum SS (1994) Q-switched ruby laser treatment of labial lentigines in Peutz-Jeghers syndrome. J Dermatol Surg Oncol 20(12):830–832PubMedGoogle Scholar
  8. 8.
    Lampe AK, Hampton PJ, Woodford-Richens K, Tomlinson I, Lawrence CM, Douglas FS (2003) Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome. J Med Genet 40(6):e77. doi: 10.1136/jmg.40.6.e77 PubMedCrossRefGoogle Scholar
  9. 9.
    Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 136(2):71–82PubMedGoogle Scholar
  10. 10.
    Tovar JA, Eizaguirre I, Albert A, Jimenez J (1983) Peutz-Jeghers syndrome in children: report of two cases and review of the literature. J Pediatr Surg 18(1):1–6. doi: 10.1016/S0022-3468(83)80262-0 PubMedCrossRefGoogle Scholar
  11. 11.
    Bartholomew LG, Moore CE, Dahlin DC, Waugh JM (1962) Intestinal polyposis associated with mucocutaneous pigmentation. Surg Gynecol Obstet 115:1–11PubMedGoogle Scholar
  12. 12.
    Shepherd NA, Bussey HJ, Jass JR (1987) Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall. Am J Surg Pathol 11(10):743–749. doi: 10.1097/00000478-198710000-00001 PubMedCrossRefGoogle Scholar
  13. 13.
    Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A et al (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391(6663):184–187. doi: 10.1038/34432 PubMedCrossRefGoogle Scholar
  14. 14.
    Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C et al (1998) Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet 63(6):1641–1650. doi: 10.1086/302159 PubMedCrossRefGoogle Scholar
  15. 15.
    Wang ZJ, Ellis I, Zauber P, Iwama T, Marchese C, Talbot I et al (1999) 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(1):9–13. doi :10.1002/(SICI)1096-9896(199905)188:1<9::AID-PATH326>3.0.CO;2-EPubMedCrossRefGoogle Scholar
  16. 16.
    Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist AM 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(1):87–90. doi: 10.1038/ng0197-87 PubMedCrossRefGoogle Scholar
  17. 17.
    Le Meur N, Martin C, Saugier-Veber P, Joly G, Lemoine F, Moirot H et al (2004) Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome. Eur J Hum Genet 12(5):415–418. doi: 10.1038/sj.ejhg.5201155 PubMedCrossRefGoogle Scholar
  18. 18.
    Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ et al (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128(11):896–899PubMedGoogle Scholar
  19. 19.
    Hizawa K, Iida M, Matsumoto T, Kohrogi N, Kinoshita H, Yao T et al (1993) Cancer in Peutz-Jeghers syndrome. Cancer 72(9):2777–2781. doi :10.1002/1097-0142(19931101)72:9<2777::AID-CNCR2820720940>3.0.CO;2-6PubMedCrossRefGoogle Scholar
  20. 20.
    Foley TR, McGarrity TJ, Abt AB (1988) Peutz-Jeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49-year follow-up. Gastroenterology 95(6):1535–1540PubMedGoogle Scholar
  21. 21.
    Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV et al (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119(6):1447–1453. doi: 10.1053/gast.2000.20228 PubMedCrossRefGoogle Scholar
  22. 22.
    Linos DA, Dozois RR, Dahlin DC, Bartholomew LG (1981) Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? A later look. Arch Surg 116(9):1182–1184PubMedGoogle Scholar
  23. 23.
    Burdick D, Prior JT, Scanlon GT (1963) Peutz-Jeghers syndrome: a clinical-pathological study of a large family with a 10-year follow-up. Cancer 16:854–867. doi :10.1002/1097-0142(196307)16:7<854::AID-CNCR2820160704>3.0.CO;2-7PubMedCrossRefGoogle Scholar
  24. 24.
    Burdick D, Prior JT (1982) Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up. Cancer 50(10):2139–2146. doi :10.1002/1097-0142(19821115)50:10<2139::AID-CNCR2820501028>3.0.CO;2-KPubMedCrossRefGoogle Scholar
  25. 25.
    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(4):509–517PubMedGoogle Scholar
  26. 26.
    Miller LJ, Bartholomew LG, Dozois RR, Dahlin DC (1983) Adenocarcinoma of the rectum arising in a hamartomatous polyp in a patient with Peutz-Jeghers syndrome. Dig Dis Sci 28(11):1047–1051. doi: 10.1007/BF01311735 PubMedCrossRefGoogle Scholar
  27. 27.
    Hizawa K, Iida M, Matsumoto T, Kohrogi N, Yao T, Fujishima M (1993) Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis Colon Rectum 36(10):953–957. doi: 10.1007/BF02050632 PubMedCrossRefGoogle Scholar
  28. 28.
    Dozois RR, Kempers RD, Dahlin DC, Bartholomeew LG (1970) Ovarian tumors associated with the Peutz-Jeghers syndrome. Ann Surg 172(2):233–238. doi: 10.1097/00000658-197008000-00009 PubMedCrossRefGoogle Scholar
  29. 29.
    Scully RE (1970) Sex cord tumor with annular tubules a distinctive ovarian tumor of the Peutz-Jeghers syndrome. Cancer 25(5):1107–1121. doi :10.1002/1097-0142(197005)25:5<1107::AID-CNCR2820250516>3.0.CO;2-7PubMedCrossRefGoogle Scholar
  30. 30.
    Dozois RR, Dahlin DC, Bartholomew LG (1973) Ovarian tumors associated with the Peutz-Jeghers syndrome. Prog Clin Cancer 5:187–193PubMedGoogle Scholar
  31. 31.
    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(7):1384–1402. doi :10.1002/1097-0142(19821001)50:7<1384::AID-CNCR2820500726>3.0.CO;2-5PubMedCrossRefGoogle Scholar
  32. 32.
    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(9):717–729. doi: 10.1097/00000478-198909000-00001 PubMedGoogle Scholar
  33. 33.
    Herruzo AJ, Redondo E, Perez de Avila I, Aleman M, Menjon S (1990) Ovarian sex cord tumor with annular tubules and Peutz-Jeghers syndrome. Eur J Gynaecol Oncol 11(2):141–144PubMedGoogle Scholar
  34. 34.
    Podczaski E, Kaminski PF, Pees RC, Singapuri K, Sorosky JI (1991) Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum. Gynecol Oncol 42(1):74–78. doi: 10.1016/0090-8258(91)90234-V PubMedCrossRefGoogle Scholar
  35. 35.
    Scully RE (2000) The prolonged gestation, birth, and early life of the sex cord tumor with annular tubules and how it joined a syndrome. Int J Surg Pathol 8(3):233–238. doi: 10.1177/106689690000800312 PubMedCrossRefGoogle Scholar
  36. 36.
    Niewenhuis JC, Wolf MC, Kass EJ (1994) Bilateral asynchronous sertoli cell tumor in a boy with the Peutz-Jeghers syndrome. J Urol 152(4):1246–1248PubMedGoogle Scholar
  37. 37.
    Seidman JD (1994) Mucinous lesions of the fallopian tube. A report of seven cases. Am J Surg Pathol 18(12):1205–1212. doi: 10.1097/00000478-199412000-00003 PubMedGoogle Scholar
  38. 38.
    Mangili G, Taccagni G, Garavaglia E, Carnelli M, Montoli S (2004) An unusual admixture of neoplastic and metaplastic lesions of the female genital tract in the Peutz-Jeghers syndrome. Gynecol Oncol 92(1):337–342. doi: 10.1016/j.ygyno.2003.10.005 PubMedCrossRefGoogle Scholar
  39. 39.
    Young S, Gooneratne S, Straus FHII, Zeller WP, Bulun SE, Rosenthal IM (1995) Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. Am J Surg Pathol 19(1):50–58. doi: 10.1097/00000478-199501000-00007 PubMedCrossRefGoogle Scholar
  40. 40.
    Coen P, Kulin H, Ballantine T, Zaino R, Frauenhoffer E, Boal D et al (1991) An aromatase-producing sex-cord tumor resulting in prepubertal gynecomastia. N Engl J Med 324(5):317–322PubMedGoogle Scholar
  41. 41.
    McGarrity TJ, Kulin HE, Zaino RJ (2000) Peutz-Jeghers syndrome. Am J Gastroenterol 95(3):596–604. doi: 10.1111/j.1572-0241.2000.01831.x PubMedCrossRefGoogle Scholar
  42. 42.
    Spigelman AD, Thomson JP, Phillips RK (1990) Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg 77(3):301–302. doi: 10.1002/bjs.1800770320 PubMedCrossRefGoogle Scholar
  43. 43.
    Panos RG, Opelka FG, Nogueras JJ (1990) Peutz-Jeghers syndrome. A call for intraoperative enteroscopy. Am Surg 56(5):331–333PubMedGoogle Scholar
  44. 44.
    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(6):367–368PubMedCrossRefGoogle Scholar
  45. 45.
    van Coevorden F, Mathus-Vliegen EM, Brummelkamp WH (1986) Combined endoscopic and surgical treatment in Peutz-Jeghers syndrome. Surg Gynecol Obstet 162(5):426–428PubMedGoogle Scholar
  46. 46.
    Lin BC, Lien JM, Chen RJ, Fang JF, Wong YC (2000) Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome. Surg Endosc 14(12):1185–1187. doi: 10.1007/s004640000029 PubMedCrossRefGoogle Scholar
  47. 47.
    Taira K, Matsubara H, Isa T, Miyazato H, Hiroyasu S, Shiraishi M et al (2000) Combined endoscopic and surgical treatment for multiple polyps of the small intestine in Peutz-Jeghers syndrome: a case report. Surg Laparosc Endosc Percutan Tech 10(6):409–411. doi: 10.1097/00019509-200012000-00015 PubMedCrossRefGoogle Scholar
  48. 48.
    Seenath MM, Scott MJ, Morris AI, Ellis A, Hershman MJ (2003) Combined surgical and endoscopic clearance of small-bowel polyps in Peutz-Jeghers syndrome. J R Soc Med 96(10):505–506. doi: 10.1258/jrsm.96.10.505 PubMedCrossRefGoogle Scholar
  49. 49.
    Williams CB, Goldblatt M, Delaney PV (1982) ‘Top and tail endoscopy’ and follow-up in Peutz-Jeghers syndrome. Endoscopy 14(3):82–84PubMedCrossRefGoogle Scholar
  50. 50.
    Zanoni EC, Averbach M, Borges JL, Correa PA, Cutait R (2003) Laparoscopic treatment of intestinal intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. Surg Laparosc Endosc Percutan Tech 13(4):280–282. doi: 10.1097/00129689-200308000-00012 PubMedCrossRefGoogle Scholar
  51. 51.
    Phillips RK, Wallace MH, Lynch PM, Hawk E, Gordon GB, Saunders BP et al, FAP Study Group (2002) A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 50(6):857–860. doi: 10.1136/gut.50.6.857 PubMedCrossRefGoogle Scholar
  52. 52.
    Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB et al (2000) The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 342(26):1946–1952. doi: 10.1056/NEJM200006293422603 PubMedCrossRefGoogle Scholar
  53. 53.
    Higuchi T, Iwama T, Yoshinaga K, Toyooka M, Taketo MM, Sugihara K (2003) A randomized, double-blind, placebo-controlled trial of the effects of rofecoxib, a selective cyclooxygenase-2 inhibitor, on rectal polyps in familial adenomatous polyposis patients. Clin Cancer Res 9(13):4756–4760PubMedGoogle Scholar
  54. 54.
    De Leng WW, Westerman AM, Weterman MA, De Rooij FW, Dekken Hv H, De Goeij AF et al (2003) Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas. Clin Cancer Res 9(8):3065–3072PubMedGoogle Scholar
  55. 55.
    Wei C, Amos CI, Rashid A, Sabripour M, Nations L, McGarrity TJ et al (2003) Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome. J Histochem Cytochem 51(12):1665–1672PubMedGoogle Scholar
  56. 56.
    Udd L, Katajisto P, Rossi DJ, Lepistö A, Lahesmaa AM, Ylikorkala A et al (2004) Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology 127:1030–1037. doi: 10.1053/j.gastro.2004.07.059 PubMedCrossRefGoogle Scholar
  57. 57.
    McGrath DR, Spigelman AD (2001) Preventive measures in Peutz-Jeghers syndrome. Fam Cancer 1(2):121–125. doi: 10.1023/A:1013896813918 PubMedCrossRefGoogle Scholar
  58. 58.
    Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA (2001) Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 8(4):319–327. doi: 10.1007/s10434-001-0319-7 PubMedCrossRefGoogle Scholar
  59. 59.
    Brosens LA, van Hattem WA, Jansen M, deLeng WW, Giardiello FM, Offerhaus GA (2007) Gastrointestinal polyposis syndromes. Curr Mol Med 7:29–46. doi: 10.2174/156652407779940404 PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • Jason D. Fraser
    • 1
  • Steven E. Briggs
    • 1
  • Shawn D. St. Peter
    • 1
  • Giovanni De Petris
    • 2
  • Jacques Heppell
    • 1
  1. 1.Department of General SurgeryMayo Clinic ArizonaPhoenixUSA
  2. 2.Department of PathologyPhoenixUSA

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