|Year : 2020 | Volume
| Issue : 12 | Page : 1776-1779
Recurrent Extra-gastrointestinal Stromal Tumor of the Vagina: A Case Report and Review of the Literature
J Shi1, R Fu1, W Hec2, A Zhao1
1 Department of Obstetrics and Gynecology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University; Shanghai Key Laboratory of Gynecologic Oncology, Shanghai, China
2 Department of Pathology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
|Date of Submission||11-Mar-2019|
|Date of Acceptance||29-Jun-2020|
|Date of Web Publication||23-Dec-2020|
Dr. A Zhao
Department of Obstetrics and Gynecology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 160 Pu Jian Road, Shanghai 200127
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Gastrointestinal tumors are uncommonly found outside the gastrointestinal tract, and extremely rare in the vaginal wall. In this case report, a 39-year-old female, she was finally diagnosed with an extra gastrointestinal stromal tumor (EGIST) when she presented with a recurrent vaginal tumor, while misdiagnosed after the first surgery. She had definitive surgical clearance and was taking targeted drug therapy with no sign of recurrence after follow-up for 13 months. Immunohistochemistry and cytogenetic's remain the most definitive method to diagnose EGISTs. Surgical resection and postoperative adjuvant targeted therapy are the optimum treatment options.
Keywords: Gastrointestinal stromal tumor, imatinib, pathology, surgery, vaginal neoplasms
|How to cite this article:|
Shi J, Fu R, Hec W, Zhao A. Recurrent Extra-gastrointestinal Stromal Tumor of the Vagina: A Case Report and Review of the Literature. Niger J Clin Pract 2020;23:1776-9
|How to cite this URL:|
Shi J, Fu R, Hec W, Zhao A. Recurrent Extra-gastrointestinal Stromal Tumor of the Vagina: A Case Report and Review of the Literature. Niger J Clin Pract [serial online] 2020 [cited 2022 Nov 30];23:1776-9. Available from: https://www.njcponline.com/text.asp?2020/23/12/1776/304417
| Introduction|| |
Gastrointestinal tumors (GISTs) are the most common primary mesenchymal tumors originated from the gastrointestinal tract with the characteristics of recurrence, metastasis and drug resistance.
However, these tumors are rarely found as primary tumors outside the GI tract called extra-gastrointestinal stromal tumor (EGIST), such as the omentum, mesentery and retroperitoneum with the similar morphology, immunophenotype and genetic characteristics.
| Case Report|| |
A 39-year-old Chinese woman presented with a vaginal mass felt by her for 1 year, enlarging significantly in the month prior to the presentation. She had undergone a local excision surgery for a vaginal tumor in the county hospital where she lives in 2015. At that time, it was diagnosed as a vaginal leiomyoma (about 2.5 cm) according to the pathology without fellow-up after the surgery. However, she gradually felt vaginal swelling and discomfort and she was admitted to the gynecological ward of our hospital in November 2017.
On clinical examination, two vaginal masses (both about 2.5cm) were palpable without pain, and without abnormality found in digital rectal examination. Transvaginal ultrasound showed no abnormalities in the pelvic cavity and no obvious nodule in the vaginal wall.
Gastroscopy and colonoscopy were all normal. Pelvic magnetic resonance imaging (MRI) demonstrated two nodules with an abnormal signal, low signal intensity on T1WI and high signal intensity on T2WI were seen in the vagina wall near the vaginal orifice. The boundaries of the two nodules were clear [Figure 1], and without evidence of local deep tissue infiltration or lymph node swelling. The tumor markers were normal. After the discussion of multi-disciplinary treatment (MDT), a local resection surgery was performed. During the surgery, two tough nodules were removed successfully with thin pedicle, smooth surface and without any apparent attachment to the rectal wall.
|Figure 1: Imaging findings. The pelvic magnetic resonance imaging (MRI) showed two border-clear masses measuring at 21 × 19 × 20 mm3, 18 × 19 × 20mm3 with low signal intensity on T1W1 and high signal intensity on T2W1. (a) Coronal plane of vaginal masses (arrow). (b) The horizontal plane of vaginal masses (arrow). (c) Sagittal plane of left vaginal mass (arrow). (d) Sagittal plane of right vaginal mass (arrow)|
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Pathological findings indicated that these tumors were the mitotic spindle cell tumors with mitotic activity of >5 per 50 high-power fields (HPF), which was classified as high risk. The stromal tumor diagnosis was further supported by the following immunohistochemical staining results in vaginal tissue: Vimentin(+), CD99(+), Ki67 (70%), SMA(-) Desmin(-), S-100(-), CD117(+), Dog-1(+), CD34(+), CD10(-), HMB45(-), CK(-), SOX10(-) and STAT6(-) [Figure 2]. And the margin was negative. Furthermore, to confirm the diagnosis of EGIST at the molecular level, we performed the C-kit and platelet-derived growth factor receptor (PDGFRA) genes mutational analysis. The direct sequencing analysis revealed that C-kit gene (exon 11) appeared mutation.
|Figure 2: Photomicrograph findings. (a) The microscopic view that the neoplastic cells revealed a stromal tumor almost composed of spindle cells (HE × 100). Immunohistochemistry showing that (b) the tumor cells showed the positive cytoplasmic staining for CD34 (IHC × 100). (c) The tumor cells showed the positive cytoplasmic staining for CD117 (IHC × 100). (d) The tumor cells showed the positive cytoplasmic staining for DOG1 (IHC × 100)|
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After the surgery, she was started on imatinib 400 mg/d 1 week after the operation. Follow-up at 13 months was unremarkable, without evidence of recurrence and any drug's side effects. We recommended that the patient maintain this drug for at least 3 years under the close follow-up.
| Discussion|| |
EGISTs arising in the vaginal are extremely rare. A comprehensive literature review using PubMed and MEDLINE was undertaken using the keywords: “extra-gastrointestinal stromal tumors”, “primary vaginal tumor”, and only 10 previous case studies of this tumor with complete treatment and follow-up records have been reported in English before 2019.,,,,,,, Clinical, pathological, initial management and outcome features of previously published case reports (along with our cases) are summarized in the table below in an attempt to reveal any similarities in the presentation that may aid in the diagnosis of this rare tumor[Refer to [Table 1]].
|Table 1: The clinicopathological findings and treatment outcomes of the reported cases of primary vaginal gastrointestinal stromal tumors (n=15)|
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The patients included 10 women (including 3 recurrent cases) whose ages ranged from 38 to 75 years (mean, 52 years). The average tumor size in the largest diameter was 58.4 mm (range 25-89 mm). In all, 70% (7/10) of these EGISTs were originated from the posterior vaginal wall, 30% (3/10) arising from the rectovaginal septum, and none were metastatic on presentation.
EGISTs are believed to arise from the common cell origin of the interstitial cells of Cajal. Clinically, the diagnosis of EGIST depends mainly on histopathological, immunohistochemical and molecular features. Microscopically, spindle cell morphology was seen in 100% of the cases as well, and these tumor cells had a mitotic rate ranging between 1 and 25/50 HPF. This suggests that these tumors are indolent with a low rate of metastatic potential. Immunohistochemistry showed that CD117 was positively expressed on 100% of the cases; however, Desmin and S100 were not expressed on any of the tumors. Furthermore, it demonstrated that (4/10) happened that exon 11 KIT mutations. However, immunohistochemistry remains the most definitive method to differentiate them from other mesenchymal tumors, and this was the main reason why our case was misdiagnosed for the initial operation. Among these reviewed 10 cases, there were 3 cases with a negative margin, 4 cases with uncertain margin, and 3 cases of not described.
The definitive treatment of EGISTs is surgery with local excision. Complete surgical resection with negative microscopic margins is the standard treatment for EGISTs. However, systemic regional lymphadenectomy is not generally considered because lymph node metastasis is rare. Among these 10 reviewed cases, they underwent different surgery. Only 20% (2/10) of the patients happened to be recurrent, including one patient who occurred 10 years after the surgery, the other patient occurred after the surgery combined radiation. What's more, these recurrent cases had a suspicious tumor margin.
Imatinib, a tyrosine kinase inhibitor that targets KIT expression, is considered to be a treatment choice for GISTs. Adjuvant therapy with imatinib has been shown to reduce the risk of recurrence, reduce tumor size before surgery, increase the rate of complete resection of the tumor and improve survival. In addition, the clinical response to imatinib may be related to the type of KIT mutation. The patients with mutations in exon 11 have a better response than mutations in exon 9. According to the current guidelines and consensus on GIST treatment, it is recommended that adjuvant treatment be maintained for at least 3 years for high-risk patients after radical surgery.
| Conclusions|| |
In summary, we present a rare case of recurrent EGIST of the vaginal treated with local excision and adjuvant imatinib after surgery. Immunohistochemistry remains an important role to diagnose EGISTs and differentiate them from other mesenchymal tumors. Complete surgical resection and postoperative adjuvant therapy may be an optimum option for the initial or the recurrent EGIST with KIT mutation, and long-term follow-up is necessary.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Thanks to Dr. He and Dr. Cheng for their contribution in the diagnosis, and thanks to Dr. Wang Ming of the Department of Gastrointestinal Surgery for his participation in the MDT discussion to improve postoperative treatment.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]