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CC BY 4.0 · Journal of Coloproctology 2025; 45(01): s00451802978
DOI: 10.1055/s-0045-1802978
Case Report

Gastrointestinal Stromal Tumor (GIST) in the Rectum: A Rare Location

Nadab David Mitre-Reyes 
1   Colon and Rectal Surgery Service, Siglo XXI High Specialty Medical Unit, Instituto Mexicano del Seguro Social, CDMX, Mexico
,
Yulia Angélica Morales-Chomina
2   General Surgery Service, High Specialty Medical Unit No. 25, Instituto Mexicano del Seguro Social, Monterrey, Nuevo León, Mexico
,
Luz del Carmen Mendoza Namur
3   General Surgery Service, Regional General Hospital No.1, Instituto Mexicano del Seguro Social, Charo, Michoacán, Mexico
,
Alan Guerrero-Gomez
4   Gastrointestinal Surgery Service, Siglo XXI High Specialty Medical Unit, Instituto Mexicano del Seguro Social, CDMX, Mexico
,
Kevin Joseph Fuentes-Calvo 
5   General Surgery Service, Hospital Médica Sur, CDMX, Mexico
,
Moises Freddy Rojas-Illanes
1   Colon and Rectal Surgery Service, Siglo XXI High Specialty Medical Unit, Instituto Mexicano del Seguro Social, CDMX, Mexico
› Author Affiliations Funding The authors declare that they did not receive funding from agencies in the public, private or non-profit sectors to conduct the present study.
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Abstract

Gastrointestinal stromal tumor (GIST) is a rare condition that originates in the cells of Cajal and constitutes the most frequent type of malignant mesenchymal tumors in the gastrointestinal tract. Although their incidence is low, GISTs are most common in the stomach and small intestine, although they can occur in other areas, such as the rectum. Although no specific risk factor has been identified, certain genetic conditions such as neurofibromatosis type I increase the likelihood of developing a GIST. Symptoms may vary depending on the location of the tumor and include early satiety, abdominal distention, gastrointestinal disturbances, and bleeding.

The diagnosis is usually made incidentally during radiologic or endoscopic studies and is confirmed by immunohistochemistry studies that identify mutations in cluster of differentiation 117 (c-KIT) and platelet-derived growth factor receptor kinase alpha (PDGRF-α) receptors. These tumors are resistant to conventional chemotherapy and radiotherapy.

Management of the disease preferably involves surgical resection, aiming for complete removal of the tumor. Prognosis after surgery depends on the size of the tumor and its mitotic activity. Periodic follow-up with imaging tests is recommended for several years after resection.

In advanced cases, treatment may include therapy with imatinib, a tyrosine kinase inhibitor that has demonstrated efficacy in GISTs. Primary resistance to treatment can be a challenge, and in advanced rectal tumors, several surgical options can be considered, although resection can be difficult due to the location of the tumor and its adherence to the pelvic floor.

Despite curative resection, recurrence and distant metastasis, especially to the liver, are major concerns, with a reduced median survival in patients with advanced disease.

Keywords

Gastrointestinal Stromal Tumor - GIST - rectum - surgical resection - immunohistochemistry

Ethical Responsibilities

Informed consent was not requested for the publication of this case, because no personal data that would allow the patient to be identified are published in this article.


The work is not a research study, although it complies with current ethical regulations, and no data referring to the patient appears in the text or in the figures.


Authors' Contributions

Conceptualization; Nadab David Mitre-Reyes

Investigation; Yulia Angélica Morales-Chomina, Luz del Carmen Mendoza Namur, Kevin Joseph Fuentes-Calvo

Methodology Kevin Joseph Fuentes-Calvo

Supervision;Nadab David Mitre-Reyes

Visualization; Alan Guerrero-Gomez

Writing – original draft; Nadab David Mitre-Reyes, Kevin Joseph Fuentes-Calvo

Writing – review & editing; Nadab David Mitre-Reyes, Kevin Joseph Fuentes-Calvo




Publication History

Received: 25 July 2024

Accepted: 25 November 2024

Article published online:
26 March 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Nadab David Mitre-Reyes, Yulia Angélica Morales-Chomina, Luz del Carmen Mendoza Namur, Alan Guerrero-Gomez, Kevin Joseph Fuentes-Calvo, Moises Freddy Rojas-Illanes. Gastrointestinal Stromal Tumor (GIST) in the Rectum: A Rare Location. Journal of Coloproctology 2025; 45: s00451802978.
DOI: 10.1055/s-0045-1802978
 

  • References

  • 1 Tielen R, Verhoef C, van Coevorden F. et al. Surgical management of rectal gastrointestinal stromal tumors. J Surg Oncol 2013; 107 (04) 320-323
    CrossrefPubMedSearch in Google Scholar
  • 2 D'Alpino Peixoto R, Medeiros BA, Cronemberger EH. Resected High-Risk Rectal GIST Harboring NTRK1 Fusion: a Case Report and Review of the Literature. J Gastrointest Cancer 2021; 52 (01) 316-319
    CrossrefPubMedSearch in Google Scholar
  • 3 Miettinen M, Lasota J, Sobin LH. Gastrointestinal stromal tumors of the stomach in children and young adults: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases with long-term follow-up and review of the literature. Am J Surg Pathol 2005; 29 (10) 1373-1381
    CrossrefPubMedSearch in Google Scholar
  • 4 Chompret A, Kannengiesser C, Barrois M. et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004; 126 (1, SUPPL. 1) 318-321
    CrossrefPubMedSearch in Google Scholar
  • 5 Li FP, Fletcher JA, Heinrich MC. et al. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol 2005; 23 (12) 2735-2743
    CrossrefPubMedSearch in Google Scholar
  • 6 Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet 2007; 369 (9574): 1731-1741
    CrossrefPubMedSearch in Google Scholar
  • 7 Kameyama H, Kanda T, Tajima Y. et al. Management of rectal gastrointestinal stromal tumor. Transl Gastroenterol Hepatol 2018; 3 (FEB): 8
    CrossrefPubMedSearch in Google Scholar
  • 8 Baik SH, Kim NK, Lee CH. et al. Gastrointestinal stromal tumor of the rectum: an analysis of seven cases. Surg Today 2007; 37 (06) 455-459
    CrossrefPubMedSearch in Google Scholar
  • 9 Demetri GD, Benjamin RS, Blanke CD. et al. NCCN task force report: Management of patients with Gastrointestinal Stromal Tumor (GIST) - Update of the NCCN clinical practice guidelines. Vol. 5. JNCCN Journal of the National Comprehensive Cancer Network; 2007
    Search in Google Scholar
  • 10 Fletcher CDM, Berman JJ, Corless C. et al. Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol 2002; 33 (05) 459-465
    CrossrefPubMedSearch in Google Scholar
  • 11 Miettinen M, Sobin LH, Sarlomo-Rikala M. Immunohistochemical spectrum of GISTs at different sites and their differential diagnosis with a reference to CD117 (KIT). Mod Pathol 2000; 13 (10) 1134-1142
    CrossrefPubMedSearch in Google Scholar
  • 12 Miettinen M, Majidi M, Lasota J. Pathology and diagnostic criteria of gastrointestinal stromal tumors (GISTs): a review. Eur J Cancer 2002; 38 (5, Suppl 5) S39-S51
    CrossrefPubMedSearch in Google Scholar
  • 13 Søreide K, Sandvik OM, Søreide JA, Giljaca V, Jureckova A, Bulusu VR. Global epidemiology of gastrointestinal stromal tumours (GIST): A systematic review of population-based cohort studies. Cancer Epidemiol 2016; 40: 39-46 [Internet]
    CrossrefPubMedSearch in Google Scholar
  • 14 Heinrich MC, Corless CL, Blanke CD. et al. Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol 2006; 24 (29) 4764-4774
    CrossrefPubMedSearch in Google Scholar
  • 15 Rosenbaum SJ, Stergar H, Antoch G, Veit P, Bockisch A, Kühl H. Staging and follow-up of gastrointestinal tumors with PET/CT. Abdom Imaging 2006; 31 (01) 25-35
    CrossrefPubMedSearch in Google Scholar
  • 16 Blackstein ME, Blay JY, Corless C. et al; Canadian Advisory Committee on GIST. Gastrointestinal stromal tumours: consensus statement on diagnosis and treatment. Can J Gastroenterol 2006; 20 (03) 157-163
    CrossrefPubMedSearch in Google Scholar
  • 17 von Mehren M, Watson JC. Gastrointestinal stromal tumors. Hematol Oncol Clin North Am 2005; 19 (03) 547-564 , vii
    CrossrefPubMedSearch in Google Scholar
  • 18 Butt UI, Khan A, Nawaz A. et al. Laparoscopic resection of gastro-intestinal stromal tumour. J Pak Med Assoc 2015; 65 (11) 1228-1230
    PubMedSearch in Google Scholar
  • 19 Nguyen SQ, Divino CM, Wang JL, Dikman SH. Laparoscopic management of gastrointestinal stromal tumors. Surg Endosc 2006; 20 (05) 713-716
    CrossrefPubMedSearch in Google Scholar
  • 20 Gervaz P, Huber O, Morel P. Surgical management of gastrointestinal stromal tumours. Br J Surg 2009; 96 (06) 567-578
    CrossrefPubMedSearch in Google Scholar
  • 21 Novitsky YW, Kercher KW, Sing RF, Heniford BT. Long-term outcomes of laparoscopic resection of gastric gastrointestinal stromal tumors. Ann Surg 2006; 243 (06) 738-745 , discussion 745–747
    CrossrefPubMedSearch in Google Scholar
  • 22 Capdeville R, Buchdunger E, Zimmermann J, Matter A. Glivec (STI571, imatinib), a rationally developed, targeted anticancer drug. Nat Rev Drug Discov 2002; 1 (07) 493-502
    CrossrefPubMedSearch in Google Scholar
  • 23 Klug LR, Corless CL, Heinrich MC. Inhibition of KIT Tyrosine Kinase Activity: Two Decades After the First Approval. J Clin Oncol 2021; 39 (15) 1674-1686
    CrossrefPubMedSearch in Google Scholar
  • 24 Heinrich MC, Corless CL, Demetri GD. et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003; 21 (23) 4342-4349
    CrossrefPubMedSearch in Google Scholar
  • 25 Chaudhry UI, DeMatteo RP. Advances in the surgical management of gastrointestinal stromal tumor. Adv Surg 2011; 45 (01) 197-209 [Internet]
    CrossrefPubMedSearch in Google Scholar
  • 26 Tazawa H, Hirata Y, Kuga Y, Nishida T, Sakimoto H. Sphincter-saving resection by cluneal arched skin incision for a gastrointestinal stromal tumor (GIST) of the lower rectum: a case report. Surg Case Rep 2017; 3 (01) 8 [Internet]
    CrossrefPubMedSearch in Google Scholar
  • 27 DeMatteo RP, Lewis JJ, Leung D, Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumors: recurrence patterns and prognostic factors for survival. Ann Surg 2000; 231 (01) 51-58
    CrossrefPubMedSearch in Google Scholar
  • 28 Demetri GD, van Oosterom AT, Garrett CR. et al. Efficacy and safety of sunitinib in patients with advanced gastrointestinal stromal tumour after failure of imatinib: a randomised controlled trial. Lancet 2006; 368 (9544): 1329-1338
    CrossrefPubMedSearch in Google Scholar