Case Report
Literatür Derlemesi ile birlikte Nadir bir Olgu Sunumu; Rektovaginal Septum Yerleşimli bir Ekstragastrointestinal Stromal Tümör Olgusu
Abstract
Ekstragastroentestinal Stromal Tümörler(EGİST) gastrointestinal stromal tümörlerin özelliklerini gösteren ve çok nadir görülen tümörlerdir. Kadın genital sisteminden kaynaklanan Ekstragastrointestinal Stromal Tümörler daha nadirdir. Bu olgu sunumunda, rektovaginal septumdan köken alan bir gastrointestinal stromal tümör olgusu tartışılacaktır. Tümör cerrahi olarak eksize edildi ve immünhistokimyasal olarak CD117, CD34, DOG1 pozitifti. Tümör boyutu 5,5 cm’di. Mitotik oranı 50 Büyük Büyütme Alanında(HPF) 20 mitoz olarak saptandı ve histolojik incelemede fokal nekroz saptandı. Operasyon sonrası hastaya adjuvan tedavi olarak İmatinib 400 mg başlandı ve halen tedavi devam etmektedir. Hasta ameliyattan 35 ay sonra nüks bulgusu olmaksızın halen takip edilmektedir. İmmunhistokimya ve sitogenetik EGİST’lerin tanısında en önemli yöntemlerdir. Tümörün tam cerrahi rezeksiyonundan sonra, yüksek riskli hastalıkta adjuvan imatinib tedavisi ile takip önerilmektedir.
Ethical Statement
Makalemiz Olgu sunumu eşliğinde literatür derlemesi olduğu için olgunun yakınından hasta onam formu alınmıştır
Supporting Institution
Makale için herhangi bir kurumdan destek alınmamıştır
Thanks
Bu çalışma için tüm yazarlara ve yayın değelendirmesi yapacak olan olan derginin sayın editörü ve sayın hakemlere şimdiden teşekkür ederim
References
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- 2. Miettinen M, Lasota J. Gastrointestinal stromal tumors–definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows archiv. 2001;438:1-12.
- 3. Miettinen M, Sarlomo-Rikala M, Lasota J. Gastrointestinal stromal tumors: recent advances in understanding of their biology. Human pathology. 1999;30(10):1213-20.
- 4. Reith JD, Goldblum JR, Lyles RH, Weiss SW. Extragastrointestinal (soft tissue) stromal tumors: an analysis of 48 cases with emphasis on histologic predictors of outcome. Modern Pathology. 2000;13(5):577-85.
- 5. Medeiros F, Corless CL, Duensing A, Hornick JL, Oliveira AM, Heinrich MC, et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. The American journal of surgical pathology. 2004;28(7):889-94.
- 6. Skandalos IK, Hotzoglou NF, Matsi KC, Pitta XA, Kamas AI. Giant extra gastrointestinal stromal tumor of lesser omentum obscuring the diagnosis of a choloperitoneum. International journal of surgery case reports. 2013;4(10):818-21.
- 7. Llenas-García J, Guerra-Vales J, Moreno A, Ibarrola C, Castelbon F, Fernández-Ruiz M, et al. Primary extragastrointestinal stromal tumors in the omentum and mesentery: a clinicopathological and immunohistochemical study. Hepato-gastroenterology. 2008;55(84):1002-5.
- 8. Lee Y, Chong G, Hong D. Is gastrointestinal stromal tumor (GIST) originating from the rectovaginal septum GIST or extra-GIST (EGIST)? A case report with literature review. Eur J Gynaecol Oncol. 2015;36(6):750-4.
- 9. Hanayneh W, Starr J, George Jr TJ, Parekh H. Extragastrointestinal stromal tumors of the pelvic cavity and the vagina: two case reports and review of the literature. Gynecologic oncology reports. 2018;25:3-7.
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- 11. Muñoz M, Echeverri C, Ramirez PT, Echeverri L, Pareja LR. Extragastrointestinal stromal tumor in the rectovaginal septum in an adolescent. Gynecologic oncology case reports. 2013;5:67-9.
- 12. Nasu K, Ueda T, Kai S, Anai H, Kimura Y, Yokoyama S, et al. Gastrointestinal stromal tumor arising in the rectovaginal septum. International Journal of Gynecologic Cancer. 2004;14(2).
- 13. Weppler E, Gaertner E. Malignant extragastrointestinal stromal tumor presenting as a vaginal mass: report of an unusual case with literature review. International Journal of Gynecologic Cancer. 2005;15(6).
- 14. Nagase S, Mikami Y, Moriya T, Niikura H, Yoshinaga K, Takano T, et al. Vaginal tumors with histologic and immunocytochemical feature of gastrointestinal stromal tumor: two cases and review of the literature. International Journal of Gynecologic Cancer. 2007;17(4).
- 15. Zhang W, Peng Z, Xu L. Extragastrointestinal stromal tumor arising in the rectovaginal septum: report of an unusual case with literature review. Gynecologic oncology. 2009;113(3):399-401.
- 16. Vázquez J, Pérez-Peña M, González B, Sánchez A. Gastrointestinal stromal tumor arising in the rectovaginal septum. Journal of Lower Genital Tract Disease. 2012;16(2):158-61.
- 17. Liu Q-Y, Kan Y-Z, Zhang M-Y, Sun T-Y, Kong L-F. Primary extragastrointestinal stromal tumor arising in the vaginal wall: significant clinicopathological characteristics of a rare aggressive soft tissue neoplasm. World Journal of Clinical Cases. 2016;4(4):118.
- 18. Liu S, Pan P, Han B, Wang J, Sun M, Sun Y. Extragastrointestinal stromal tumor presenting as a recurrent vaginal mass: case report. OncoTargets and therapy. 2021:959-65.
- 19. Takano M, Saito K, Kita T, Furuya K, Aida S, Kikuchi Y. Preoperative needle biopsy and immunohistochemical analysis for gastrointestinal stromal tumor of the rectum mimicking vaginal leiomyoma. International Journal of Gynecologic Cancer. 2006;16(2).
- 20. Lam MM, Corless CL, Goldblum JR, Heinrich MC, Downs-Kelly E, Rubin BP. Extragastrointestinal stromal tumors presenting as vulvovaginal/rectovaginal septal masses: a diagnostic pitfall. International journal of gynecological pathology. 2006;25(3):288-92.
- 21. Addley S, Alazzam M, Johnson C. Rectovaginal extragastrointestinal stromal tumour (EGIST): an additional entity to be considered in the differential diagnosis of tumours of the rectovaginal septum. BMJ Case Reports CP. 2021;14(3):e237669.
- 22. Shi J, Fu R, Hec W, Zhao A. Recurrent extra-gastrointestinal stromal tumor of the vagina: a case report and review of the literature. Nigerian Journal of Clinical Practice. 2020;23(12):1776-9.
- 23. Molina I, Seamon LG, Copeland LJ, Suarez A. Reclassification of leiomyosarcoma as an extra-gastrointestinal stromal tumor of the gynecologic tract. International journal of gynecological pathology. 2009;28(5):458-63.
- 24. Fregnani JHTG, De Oliveira ATT, de Lima Vazquez V, Viana CR, Longatto-Filho A, Reis RM. Is the gastrointestinal stromal tumor arising in the rectovaginal septum an extragastrointestinal entity? A time for reflection. International journal of colorectal disease. 2011;26:387-9.
- 25. 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 epidemiology. 2016;40:39-46.
- 26. Ma GL, Murphy JD, Martinez ME, Sicklick JK. Epidemiology of gastrointestinal stromal tumors in the era of histology codes: results of a population-based study. Cancer Epidemiology, Biomarkers & Prevention. 2015;24(1):298-302.
- 27. Cassier P, Ducimetière F, Lurkin A, Ranchère-Vince D, Scoazec J, Bringuier P, et al. A prospective epidemiological study of new incident GISTs during two consecutive years in Rhône Alpes region: incidence and molecular distribution of GIST in a European region. British journal of cancer. 2010;103(2):165-70.
- 28. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577-80.
- 29. Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. International journal of surgical pathology. 2002;10(2):81-9.
- 30. Miettinen M, Wang Z-F, Lasota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. The American journal of surgical pathology. 2009;33(9):1401-8.
- 31. Faussone‐Pellegrini MS, Thuneberg L. Guide to the identification of interstitial cells of Cajal. Microscopy research and technique. 1999;47(4):248-66.
- 32. Alkhatib L, Albtoush O, Bataineh N, Gharaibeh K, Matalka I, Tokuda Y. Extragastrointestinal stromal tumor (EGIST) in the abdominal wall: case report and literature review. International Journal of Surgery Case Reports. 2011;2(8):253-5.
- 33. Joensuu H, Eriksson M, Hall KS, Hartmann JT, Pink D, Schütte J, et al. One vs three years of adjuvant imatinib for operable gastrointestinal stromal tumor: a randomized trial. Jama. 2012;307(12):1265-72.
- 34. Von Mehren RLR, Robert S Benjamin at al.: , . Soft tissue sarcoma, version 2.2018, J Natl Compr Canc Netw. [ayer 11 June 2023] Access adress: https://wwwncbinlmnihgov29752328/. 2018 May:16(5): 536-63.
- 35. Casali P, Abecassis N, Bauer S, Biagini R, Bielack S, Bonvalot S, et al. Gastrointestinal stromal tumours: ESMO–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of oncology. 2018;29:iv68-iv78.
- 36. Demetri GD, Reichardt P, Kang Y-K, Blay J-Y, Rutkowski P, Gelderblom H, et al. Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumours after failure of imatinib and sunitinib (GRID): an international, multicentre, randomised, placebo-controlled, phase 3 trial. The Lancet. 2013;381(9863):295-302.
- 37. Blay J-Y, Serrano C, Heinrich MC, Zalcberg J, Bauer S, Gelderblom H, et al. Ripretinib in patients with advanced gastrointestinal stromal tumours (INVICTUS): a double-blind, randomised, placebo-controlled, phase 3 trial. The Lancet Oncology. 2020;21(7):923-34.
Year 2025,
Volume: 47 Issue: 4, 637 - 642, 18.06.2025
Abstract
Extragastrointestinal stromal tumors (EGISTs) are tumors that show features of gastrointestinal stromal tumors (GISTs) and are very rare. Extragastrointestinal stromal tumors that originated from female genital tract are more rare. In this case report, we will discuss a case of gastrointestinal stromal tumor originating from the rectovaginal septum. The tumor was surgicaly exised and It was positive for CD117, CD34 and DOG1, immunohistochemicaly. The tumor size was 5.5 cm and the mitotic rate was 20 mitoses per 50 high power field (HPF) and histologic examination revealed focal necrosis . After the surgery, the patient began imatinib 400 mg as adjuvant therapy and still ongoing the therapy. The patient is now healtly without evidence of recurrence 19 months after surgery. Immunohystochemistry and cytogenetics seem to be the most important methods to diagnose EGISTs. After complete surgical resection of the tumour, follow-up with adjuvant imatinib therapy is recommended in high risk disease.
References
- Rubin BP, Fletcher JA, Fletcher CD. Molecular insights into the histogenesis and pathogenesis of gastrointestinal stromal tumors. International journal of surgical pathology. 2000;8(1):5-10.
- 2. Miettinen M, Lasota J. Gastrointestinal stromal tumors–definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows archiv. 2001;438:1-12.
- 3. Miettinen M, Sarlomo-Rikala M, Lasota J. Gastrointestinal stromal tumors: recent advances in understanding of their biology. Human pathology. 1999;30(10):1213-20.
- 4. Reith JD, Goldblum JR, Lyles RH, Weiss SW. Extragastrointestinal (soft tissue) stromal tumors: an analysis of 48 cases with emphasis on histologic predictors of outcome. Modern Pathology. 2000;13(5):577-85.
- 5. Medeiros F, Corless CL, Duensing A, Hornick JL, Oliveira AM, Heinrich MC, et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. The American journal of surgical pathology. 2004;28(7):889-94.
- 6. Skandalos IK, Hotzoglou NF, Matsi KC, Pitta XA, Kamas AI. Giant extra gastrointestinal stromal tumor of lesser omentum obscuring the diagnosis of a choloperitoneum. International journal of surgery case reports. 2013;4(10):818-21.
- 7. Llenas-García J, Guerra-Vales J, Moreno A, Ibarrola C, Castelbon F, Fernández-Ruiz M, et al. Primary extragastrointestinal stromal tumors in the omentum and mesentery: a clinicopathological and immunohistochemical study. Hepato-gastroenterology. 2008;55(84):1002-5.
- 8. Lee Y, Chong G, Hong D. Is gastrointestinal stromal tumor (GIST) originating from the rectovaginal septum GIST or extra-GIST (EGIST)? A case report with literature review. Eur J Gynaecol Oncol. 2015;36(6):750-4.
- 9. Hanayneh W, Starr J, George Jr TJ, Parekh H. Extragastrointestinal stromal tumors of the pelvic cavity and the vagina: two case reports and review of the literature. Gynecologic oncology reports. 2018;25:3-7.
- 10. Ceballos KM, Francis J-A, Mazurka JL. Gastrointestinal stromal tumor presenting as a recurrent vaginal mass. Archives of pathology & laboratory medicine. 2004;128(12):1442-4.
- 11. Muñoz M, Echeverri C, Ramirez PT, Echeverri L, Pareja LR. Extragastrointestinal stromal tumor in the rectovaginal septum in an adolescent. Gynecologic oncology case reports. 2013;5:67-9.
- 12. Nasu K, Ueda T, Kai S, Anai H, Kimura Y, Yokoyama S, et al. Gastrointestinal stromal tumor arising in the rectovaginal septum. International Journal of Gynecologic Cancer. 2004;14(2).
- 13. Weppler E, Gaertner E. Malignant extragastrointestinal stromal tumor presenting as a vaginal mass: report of an unusual case with literature review. International Journal of Gynecologic Cancer. 2005;15(6).
- 14. Nagase S, Mikami Y, Moriya T, Niikura H, Yoshinaga K, Takano T, et al. Vaginal tumors with histologic and immunocytochemical feature of gastrointestinal stromal tumor: two cases and review of the literature. International Journal of Gynecologic Cancer. 2007;17(4).
- 15. Zhang W, Peng Z, Xu L. Extragastrointestinal stromal tumor arising in the rectovaginal septum: report of an unusual case with literature review. Gynecologic oncology. 2009;113(3):399-401.
- 16. Vázquez J, Pérez-Peña M, González B, Sánchez A. Gastrointestinal stromal tumor arising in the rectovaginal septum. Journal of Lower Genital Tract Disease. 2012;16(2):158-61.
- 17. Liu Q-Y, Kan Y-Z, Zhang M-Y, Sun T-Y, Kong L-F. Primary extragastrointestinal stromal tumor arising in the vaginal wall: significant clinicopathological characteristics of a rare aggressive soft tissue neoplasm. World Journal of Clinical Cases. 2016;4(4):118.
- 18. Liu S, Pan P, Han B, Wang J, Sun M, Sun Y. Extragastrointestinal stromal tumor presenting as a recurrent vaginal mass: case report. OncoTargets and therapy. 2021:959-65.
- 19. Takano M, Saito K, Kita T, Furuya K, Aida S, Kikuchi Y. Preoperative needle biopsy and immunohistochemical analysis for gastrointestinal stromal tumor of the rectum mimicking vaginal leiomyoma. International Journal of Gynecologic Cancer. 2006;16(2).
- 20. Lam MM, Corless CL, Goldblum JR, Heinrich MC, Downs-Kelly E, Rubin BP. Extragastrointestinal stromal tumors presenting as vulvovaginal/rectovaginal septal masses: a diagnostic pitfall. International journal of gynecological pathology. 2006;25(3):288-92.
- 21. Addley S, Alazzam M, Johnson C. Rectovaginal extragastrointestinal stromal tumour (EGIST): an additional entity to be considered in the differential diagnosis of tumours of the rectovaginal septum. BMJ Case Reports CP. 2021;14(3):e237669.
- 22. Shi J, Fu R, Hec W, Zhao A. Recurrent extra-gastrointestinal stromal tumor of the vagina: a case report and review of the literature. Nigerian Journal of Clinical Practice. 2020;23(12):1776-9.
- 23. Molina I, Seamon LG, Copeland LJ, Suarez A. Reclassification of leiomyosarcoma as an extra-gastrointestinal stromal tumor of the gynecologic tract. International journal of gynecological pathology. 2009;28(5):458-63.
- 24. Fregnani JHTG, De Oliveira ATT, de Lima Vazquez V, Viana CR, Longatto-Filho A, Reis RM. Is the gastrointestinal stromal tumor arising in the rectovaginal septum an extragastrointestinal entity? A time for reflection. International journal of colorectal disease. 2011;26:387-9.
- 25. 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 epidemiology. 2016;40:39-46.
- 26. Ma GL, Murphy JD, Martinez ME, Sicklick JK. Epidemiology of gastrointestinal stromal tumors in the era of histology codes: results of a population-based study. Cancer Epidemiology, Biomarkers & Prevention. 2015;24(1):298-302.
- 27. Cassier P, Ducimetière F, Lurkin A, Ranchère-Vince D, Scoazec J, Bringuier P, et al. A prospective epidemiological study of new incident GISTs during two consecutive years in Rhône Alpes region: incidence and molecular distribution of GIST in a European region. British journal of cancer. 2010;103(2):165-70.
- 28. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577-80.
- 29. Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. International journal of surgical pathology. 2002;10(2):81-9.
- 30. Miettinen M, Wang Z-F, Lasota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. The American journal of surgical pathology. 2009;33(9):1401-8.
- 31. Faussone‐Pellegrini MS, Thuneberg L. Guide to the identification of interstitial cells of Cajal. Microscopy research and technique. 1999;47(4):248-66.
- 32. Alkhatib L, Albtoush O, Bataineh N, Gharaibeh K, Matalka I, Tokuda Y. Extragastrointestinal stromal tumor (EGIST) in the abdominal wall: case report and literature review. International Journal of Surgery Case Reports. 2011;2(8):253-5.
- 33. Joensuu H, Eriksson M, Hall KS, Hartmann JT, Pink D, Schütte J, et al. One vs three years of adjuvant imatinib for operable gastrointestinal stromal tumor: a randomized trial. Jama. 2012;307(12):1265-72.
- 34. Von Mehren RLR, Robert S Benjamin at al.: , . Soft tissue sarcoma, version 2.2018, J Natl Compr Canc Netw. [ayer 11 June 2023] Access adress: https://wwwncbinlmnihgov29752328/. 2018 May:16(5): 536-63.
- 35. Casali P, Abecassis N, Bauer S, Biagini R, Bielack S, Bonvalot S, et al. Gastrointestinal stromal tumours: ESMO–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of oncology. 2018;29:iv68-iv78.
- 36. Demetri GD, Reichardt P, Kang Y-K, Blay J-Y, Rutkowski P, Gelderblom H, et al. Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumours after failure of imatinib and sunitinib (GRID): an international, multicentre, randomised, placebo-controlled, phase 3 trial. The Lancet. 2013;381(9863):295-302.
- 37. Blay J-Y, Serrano C, Heinrich MC, Zalcberg J, Bauer S, Gelderblom H, et al. Ripretinib in patients with advanced gastrointestinal stromal tumours (INVICTUS): a double-blind, randomised, placebo-controlled, phase 3 trial. The Lancet Oncology. 2020;21(7):923-34.
There are 37 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Oncology |
| Journal Section | OLGU SUNUMU |
| Authors | |
| Publication Date | June 18, 2025 |
| Submission Date | November 16, 2024 |
| Acceptance Date | April 7, 2025 |
| Published in Issue | Year 2025 Volume: 47 Issue: 4 |