Appendiceal carcinoid in a pediatric patient with Peutz-Jeghers syndrome: A case report and comprehensive literature review.
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
01 Oct 2021
01 Oct 2021
Historique:
received:
16
07
2021
accepted:
15
09
2021
entrez:
1
10
2021
pubmed:
2
10
2021
medline:
7
10
2021
Statut:
ppublish
Résumé
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder, is characterized by mucocutaneous pigmentations, hamartomatous polyps in the gastrointestinal tract, and a high risk of developing various malignancies. To the best of our knowledge, only 1 case of appendiceal carcinoid associated with PJS has been previously reported in the pediatric population. We report a 7-year-old girl who was admitted for severe, intermittent abdominal pain and cramps, nausea, and vomiting. Multiple brown melanotic macules on the lips, buccal mucosa, and the tongue were noted. A plain abdominal X-ray in a standing position revealed dilated intestinal loops with multiple air-fluid levels. A computed tomography scan of the abdomen showing a "coffee bean" appearance of the jejunal loop with a transition point to the duodenal loop. Axial-contrast-enhanced computed tomography scan of the abdomen showing dilated jejunum loops, filled with fluid with the swirled appearance of mesentery typical for volvulus. The diagnosis of PJS was based on clinical findings along with the histopathologic confirmation of the hamartomatous polyps. An emergency laparotomy was performed, revealing a jejunojejunal intussusception starting 40 cm from the duodenojejunal flexure. Jejunotomy revealed that a lead-point intussusception was a necrotic hamartomatous polyp. After resecting the involved jejunal necrotic segment, including the polyp, end-to-end jejuno-jejunal anastomosis was performed. Further exploration revealed the presence of a jejunal mass 80 cm from the duodenojejunal flexure identified as another hamartomatous pedunculated polyp. The polyp was resected, and the enterotomy was then closed transversely. The grossly normal appendix was also removed. Clinical findings along with the histopathologically confirmed hamartomatous polyps were consistent with PJS. An appendiceal carcinoid (well-differentiated neuroendocrine tumor, European Neuroendocrine Tumor Society stage pT2) was incidentally detected during histological examination of the appendix. The patient and parents were counseled accordingly, focusing on active surveillance and control of symptoms. Two additional hamartomatous polyps (gastric and jejunal) were detected endoscopically and resected in the fourth postoperative week. A regular, 1-year follow-up and surveillance revealed no complications or recurrences. Unusual neoplasms can occasionally be encountered in well-defined syndromes such as PJS. Therefore, active follow-up and surveillance are mandatory for all patients with PJS.
Identifiants
pubmed: 34596162
doi: 10.1097/MD.0000000000027389
pii: 00005792-202110010-00056
pmc: PMC8483869
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e27389Informations de copyright
Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
Daniell J, Plazzer JP, Perera A, Macrae F. An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. Fam Cancer 2018;17:421–7.
Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010;59:975–86.
Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006;4:408–15.
Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol 2009;15:5397–408.
Riegert-Johnson DL, Westra W, Roberts M. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut 2012;61:322author reply 322-323.
Hofmann S, Barth TF, Kornmann M, Henne-Bruns D. Appendix carcinoid associated with the Peutz-Jeghers syndrome. Int J Surg Case Rep 2014;5:964–7.
Pape UF, Niederle B, Costa F, et al. ENETS consensus guidelines for neuroendocrine neoplasms of the appendix (excluding goblet cell carcinomas). Neuroendocrinology 2016;103:144–52.
Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet 1997;34:1007–11.
Aaltonen LA, Jarvinen H, Gruber SB, Billaud M, Jass JR. Tumours of the small intestine: Peutz-Jeghers syndrome. World Health Organization Classification of Tumours: Pathology and Genetics. Tumours of the Digestive System. Lyon: IARC Press; 2000.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. GeneReviews® [Internet]. February 2001. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1266/ . Updated July 14, 2016.
Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol 2009;23:219–31.
Navarro O, Daneman A. Intussusception. Part 3: diagnosis and management of those with an identifiable or predisposing cause and those that reduce spontaneously. Pediatr Radiol 2004;34:305–12. quiz 369.
Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447–53.
Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975;136:71–82.
Wada K, Asoh T, Imamura T, et al. Rectal carcinoid tumor associated with the Peutz-Jeghers syndrome. J Gastroenterol 1998;33:743–6.
Chen XD, Yu YY, Yang L, Rui YY, Zhou ZG. Duodenal intussusception due to a giant neuroendocrine carcinoma in a patient with Peutz-Jeghers syndrome: case report and systematic review. Eur J Gastroenterol Hepatol 2012;24:722–6.
Kurihara K, Suganuma T. Appendiceal cancer leading to intussusception detected incidentally during follow-up for Peutz-Jeghers syndrome. Clin J Gastroenterol 2020;13:1136–43.
Miyahara M, Saito T, Etoh K, et al. Appendiceal intussusception due to an appendiceal malignant polyp--an association in a patient with Peutz-Jeghers syndrome: report of a case. Surg Today 1995;25:834–7.
Takahashi M, Sawada T, Fukuda T, Furugori T, Kuwano H. Complete appendiceal intussusception induced by primary appendiceal adenocarcinoma in tubular adenoma: a case report. Jpn J Clin Oncol 2003;33:413–5.
Matsushita K, Kagawa Y, Kato T, et al. A case of appendiceal intussusception induced by appendiceal carcinoma. Gan To Kagaku Ryoho 2014;41:1628–30.
Mojsilovic M, Katic V, Ilic I, et al. A thirty-seven-year follow-up of Peutz-Jeghers syndrome across three generations. Acta Fac Medicae Naiss 2015;32:221–6.
Lodish MB, Stratakis CA. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab 2010;24:439–49.
Ruoff C, Hanna L, Zhi W, Shahzad G, Gotlieb V, Saif MW. Cancers of the appendix: review of the literatures. ISRN Oncol 2011;2011:728579.
Connor SJ, Hanna GB, Frizelle FA. Appendiceal tumors: retrospective clinicopathologic analysis of appendiceal tumors from 7,970 appendectomies. Dis Colon Rectum 1998;41:75–80.
Neves GR, Chapchap P, Sredni ST, Viana CR, Mendes WL. Childhood carcinoid tumors: description of a case series in a Brazilian cancer center. Sao Paulo Med J 2006;124:21–5.
Zvizdić Z, Đuran A, Karavdic K, Jakic A, Milisic E. Carcinoid tumors of the appendix vermiform in children-ten year analysis of 1503 appendectomies. BH Surgery 2011;1:100–3.
Doede T, Foss HD, Waldschmidt J. Carcinoid tumors of the appendix in children–epidemiology, clinical aspects and procedure. Eur J Pediatr Surg 2000;10:372–7.
Akova F, Aydin E, Nur Eray Y, et al. Long-term outcomes in pediatric appendiceal carcinoids: Turkey experience. Eur J Pediatr 2018;177:1845–50.
Moris D, Tsilimigras DI, Vagios S, et al. Neuroendocrine neoplasms of the appendix: a review of the literature. Anticancer Res 2018;38:601–11.
Dasari A, Shen C, Halperin D, et al. Trends in the incidence, prevalence, and survival outcomes in patients with neuroendocrine tumors in the United States. JAMA Oncol 2017;3:1335–42.
Moertel CG, Weiland LH, Nagorney DM, Dockerty MB. Carcinoid tumor of the appendix: treatment and prognosis. N Engl J Med 1987;317:1699–701.
Bamboat ZM, Berger DL. Is right hemicolectomy for 2.0-cm appendiceal carcinoids justified? Arch Surg 2006;141:349–52. discussion 352.
Kim SS, Kays DW, Larson SD, Islam S. Appendiceal carcinoids in children--management and outcomes. J Surg Res 2014;192:250–3.
Assadi M, Kubiak R, Kaiser G. Appendiceal carcinoid tumors in children: does size matter? Med Pediatr Oncol 2002;38:65–6.
Cernaianu G, Tannapfel A, Nounla J, Gonzalez-Vasquez R, Wiesel T, Trobs RB. Appendiceal carcinoid tumor with lymph node metastasis in a child: case report and review of the literature. J Pediatr Surg 2010;45:e1–5.