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 Table of Contents  
Year : 2021  |  Volume : 11  |  Issue : 4  |  Page : 184-188

Recurrent paediatric gastrointestinal stromal tumour of the stomach after 11-years follow-up period – Case report and review of the literature

1 Department of Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt
2 Department of Gastroenterology and Hepatology, Mansoura University, Mansoura, Egypt
3 Surgical Oncology, Oncology Centre, Mansoura University, Mansoura, Egypt
4 Department of Diagnostic and Interventional Radiology, Faculty of Medicine, Mansoura University, Mansoura, Egypt

Date of Submission25-Nov-2020
Date of Decision11-May-2021
Date of Acceptance06-Jul-2021
Date of Web Publication21-Aug-2021

Correspondence Address:
Mie Ali Mohamed
Department of Pathology, Faculty of Medicine, Mansoura University, Elgomhoria Street, Mansoura, Eldakahliya, 35516
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cmrp.cmrp_73_20

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Gastrointestinal stromal tumours (GISTs) are the most frequent mesenchymal tumours of the gastrointestinal tract, but they are rare in children. We report a case of a recurrent GIST that was first diagnosed in a 10 years old girl and underwent antrectomy. After 11 years, she again complained of vomiting and abdominal pain. Upper gastrointestinal endoscopy revealed a submucosal lesion in the posterior gastric wall. Computed tomography of the chest, abdomen and pelvis confirmed the absence of distant metastasis or enlarged lymph nodes. She underwent wide local excision with a safety margin and reconstruction. Pathologic examination of the excised mass confirmed the diagnosis of recurrent GIST. She is doing well without evidence of third recurrence or metastasis after 13 months of follow-up with a multidisciplinary team till present. GISTs are very uncommon in paediatric patients and patients should be managed in the context of a clinical trial and in tertiary centres familiar with the treatment of the disease.

Keywords: Gastric mass, gastrointestinal stromal tumour, immunohistochemistry, paediatric, recurrence, succinate dehydrogenase-deficient

How to cite this article:
Ali KM, Mohamed MA, Elkholy IA, Altonbary AY, Abdallah A, Metwally IH, EL-Adalany MA, Zalata KR. Recurrent paediatric gastrointestinal stromal tumour of the stomach after 11-years follow-up period – Case report and review of the literature. Curr Med Res Pract 2021;11:184-8

How to cite this URL:
Ali KM, Mohamed MA, Elkholy IA, Altonbary AY, Abdallah A, Metwally IH, EL-Adalany MA, Zalata KR. Recurrent paediatric gastrointestinal stromal tumour of the stomach after 11-years follow-up period – Case report and review of the literature. Curr Med Res Pract [serial online] 2021 [cited 2022 Sep 27];11:184-8. Available from: http://www.cmrpjournal.org/text.asp?2021/11/4/184/324257

  Introduction Top

Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms that originate from the interstitial cells of Cajal, which are considered the pacemakers of the gastrointestinal tract. These uncommon neoplasms typically occur in adults in the fifth decade with a highest frequency in the 6th and 7th decades.[1] Their overall incidence ranges from 10 to 15 cases per million.[2]

In the paediatric population, they are rare (1%–2% of all GIST cases). In 2013, a study in the Lancet indicated that about 0.4% of all GISTs patients are <20 years old.[3] In addition, the National Cancer Institute's Surveillance, Epidemiology and End Results in the United States estimated the incidence of GISTs in the age group between 8 and 20 years old to be approximately 1.64% of all GIST cases.[4]

Paediatric GISTs differ significantly from those in adults. The differences in clinical, genetic, and biologic features have important implications for the management of paediatric patients.[5]

We report a case of a recurrent gastric GIST that was first presented in a 10 years old girl. Clinical course, pathologic data, differential diagnosis, and treatment options are reviewed.

  Case Report Top

A 10-year-old Egyptian girl was initially presented to the out-patient clinic at Mansoura University Children's Hospital (MUCH) in 2008, with complaints of vomiting and loss of appetite. There was no history of trauma, no acute or chronic bleeding symptoms. She had no contributory medical history of chronic diseases or family history for cancer.

Abdominal ultrasound revealed an antral mass measuring 2 cm × 2.4 cm. At that time, she underwent an antrectomy with posterior gastroenterostomy, and jejunostomy at the Paediatric Surgery Unit at MUCH. The tumour was removed in a gastric resection with free with surgical margins, and the pathology showed a GIST that was C-KIT (CD117), vimentin, and CD34 positive with a mitotic rate of ≤1/5 mm2 [Figure 1]. Metastatic workup was done with no evidence of residual multifocal tumour or metastatic foci.
Figure 1: Histopathologic examination of the antral mass with no evidence of mucosal erosion (a: H and E, ×4). The cells are spindled and epithelioid, with a low mitotic rate (b: H and E, ×40). Immunohistochemical expression for c-KIT (CD117) was detected in tumor cells (c: ×4)

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The patient subsequently had follow-up semiannually with abdominal ultrasound for the first 3 years then annually for the next 3 years with no evidence of recurrent disease. The patient was lost from follow up in the last 6 years then returned with vomiting and abdominal pain. An ultrasound detected Solitary enlarged epigastric mass measuring 2.7 cm × 2.4 cm with an uneven margin and poor vascularity. She underwent upper gastrointestinal endoscopy that revealed a submucosal lesion in the posterior wall of the stomach [Figure 2]a with evidence of distal gastrectomy. Endoscopic ultrasonography (EUS) confirmed the presence of an isoechoic lesion (2.7 cm × 2.4 cm) in the muscularis propria with intact mucosa and submucosa. The lesion has regular borders with small cystic areas and hyperechoic foci with an exophytic component outside the gastric wall. No detected peri-gastric lymph nodes. Coloured Doppler shows some vascularity of the lesion [Figure 2]b. Prepared slides from EUS-fine-needle aspiration cytology and biopsy revealed a diagnosis of epithelioid GIST that was positive for CD34, CD117 and DOG-1.
Figure 2: (a) Upper gastrointestinal endoscopy confirms a submucosal lesion in the posterior wall of the stomach. (b) Colored Doppler shows an isoechoic lesion in the muscularis propria with some vascularity of the lesion. (c) Gross examination of the recurrent gastric mass showing well-circumscribed mass with intact mucosa measuring 2.5 cm × 2.2 cm

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The subsequent work-up included a computed tomography (CT) chest with contrast, which showed no detected significant pulmonary nodules or enlarged mediastinal lymph nodes. CT of the abdomen and pelvis showed no evidence of liver metastasis or enlarged lymph nodes. Tumour markers tested were CEA, α fetoprotein and Ca19-9 and were not elevated. No mutational analysis was performed due to the unavailability and unaffordable cost of sending the specimens abroad to be analysed.

The case was reviewed by a multidisciplinary team at the Oncology Centre Mansoura University, and upfront surgery for R0 resection was recommended. Exploration was started laparoscopically but then shifted to open due to extensive adhesions. Exploration revealed free liver, peritoneal and omental surfaces from nodules with an exophytic mass arising from the lesser curvature of the stomach. Opening of the lesser sac showed mass contacting the inferior surface of the left liver lobe. Sharp dissection of the mass from the liver was performed and followed by wide local excision with a safety margin. The resulted gastric defect was closed by primary hand sewing. No lymphadenectomy was performed.

Enteral feeding was started on the second postoperative day and the patient was discharged a week later.

Pathologic assessment of the excised specimen revealed a well-circumscribed mass with intact mucosa measuring 2.5 cm × 2.2 cm [Figure 2]c. Histopathologic examination confirmed mixed epithelioid/spindle cell tumour with a nodular growth pattern and a reduced mitotic index (≤1/5 mm2). All margins were negative for tumour involvement. The tumour-stained positive for a panel of immunohistochemical markers that included c-KIT (CD-117), DOG-1, CD34 and smooth muscle actin, but negative for PS-100, and desmin [Figure 3]. A final diagnosis of GIST was made. Further immunohistochemical staining for succinate dehydrogenase (SDH-B) was done and it was negative (SDH deficient). There were detected multiple lymphovascular emboli that were highlighted with immunohistochemical staining for CD34.
Figure 3: The neoplasm is formed of epithelioid/spindled cells with infrequent mitotic figures (a: H and E, ×20). Multiple lymphovascular emboli were present (b: H and E, ×4) that were highlighted with immunohistochemical staining for CD34 (c: ×20). Tumour cells were positive for and DOG-1 (d and e: ×40). The tumour cells were negative for Succinate dehydrogenase (SDH-B, f: ×20)

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The oncologists from the multidisciplinary team decided no need for postoperative chemotherapy. She is doing well without evidence of third recurrence or metastasis after 13 months follow-up with a multidisciplinary team till present.

  Discussion Top

GISTs are mesenchymal neoplasms that most commonly occur in the stomach (30%–70%) followed by the small bowel (20%–40%).[6] These tumours affect mainly middle-aged or older patients. Paediatric GISTs are rare and can present as sporadic disease or as a familial disorder (e.g. Carney-Stratakis syndrome), or be a part of the non-hereditary Carney triad (GIST, pulmonary chondroma, and functioning extra-adrenal paraganglioma of unknown origin).[5]

Paediatric GISTs are more common in girls (88%) and are mostly antral-based, multifocal, with a characteristic biphasic histomorphological pattern and frequent metastasis to regional lymph nodes, in contrast to adult GIST (≤2% lymph node metastases).[7]

Immunohistochemical analysis is essential for the classification of a tumour as a GIST and differential diagnosis. These tumours are positive for a panel of immunohistochemical markers that includes CD34, c kit (CD-117) and DOG-1with variably positivity for PS-100. Meanwhile, they are negative for desmin and B-catenin. This helps in the differential diagnosis from other smooth muscle tumours such as leiomyomas and leiomyosarcomas (positive for desmin negative CD34), fibromatosis (positive for B-catenin negative CD34), and schwannoma (positive for S-100 negative CD34).[1],[8]

Percutaneous image-guided biopsy or surgical biopsy methods should be avoided at all costs because of the risk of tumour spillage which is highly associated with recurrence in paediatric GIST. Therefore, primary surgical resection can be performed as a means for tissue diagnosis.[9]

The main prognostic factors for GIST are tumour size, location, and histology. It is critical to note that there is no evidence in paediatric literature supporting the association between gastric GIST and regional lymph nodal metastasis and poor prognosis. Prognostically, the majority of paediatric gastric GISTs have an indolent clinical course with an excellent long-term prognosis.[10] The 5-year survival rates for GISTs have ranged from 32% to 63% after complete surgical resection. Recurrence of the tumour may represent multifocal disease that was missed from the beginning or initial insufficient excision.[5]

The standard treatment of GIST is complete surgical resection without lymphadenectomy as the later has not been shown to affect survival.[8] In adult GISTs, the adjuvant imatinib mesylate therapy has been beneficial particularly for those with recurrent metastatic disease by acting through antiproliferative and apoptotic mechanisms.[1] So far, there is no established indication for the oral protein kinase inhibitor, imatinib mesylate, in paediatric GIST cases.[1],[10] As a matter of fact, there are no well-established guidelines of paediatric GIST, and the recommendations are based on the management of adult patients.[11]

With the introduction of molecular therapies, the treatment and prognosis of paediatric gastric GISTs have been significantly changed.[11] More than 88% of paediatric GISTs have inactivating mutations in the genes coding for one of the four (A, B, C, D) subunits of the SDH complex and are referred to as SDH-deficient. These mutations result in destabilisation of the SDH complex that subsequently leads to increased growth signalling through IGF1R and VEGFR. This may serve as a target for therapy using ILGF1R inhibitor OSI-906 (Linsitinib).[12] In addition, one confusing question stays with no answer: Our case showed that surgical treatment only, in a long-term period, did not prevent recurrence; thus, it would be motivated to investigate the effect of combined surgery and adjuvant chemotherapy on the outcome of the patients.[11] Accordingly, in light of our present knowledge, we can state that paediatric GIST is a somehow new and mysterious entity that demands further investigation.

  Conclusion Top

Paediatric GISTs are rare; however, they should be considered in the differential diagnosis of submucosal gastric masses, especially in the antrum. Paediatric patients diagnosed with GIST should be referred to specialised centres that have a multidisciplinary team including radiology, pathology, gastroenterology and surgical teams to guarantee rapid diagnosis and adherence to the most recent clinical guidelines.

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.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Muniyappa P, Kay M, Feinberg L, Mahajan L, Stallion A, Wyllie R. The endoscopic appearance of a gastrointestinal stromal tumor in a pediatric patient. J Pediatr Surg 2007;42:1302-5.  Back to cited text no. 1
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.  Back to cited text no. 2
Joensuu H, Hohenberger P, Corless CL. Gastrointestinal stromal tumour. Lancet 2013;382:973-83.  Back to cited text no. 3
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 Epidemiol Biomarkers Prev 2015;24:298-302.  Back to cited text no. 4
Otto C, Agaimy A, Braun A, Rädecke J, Hoeppner J, Illerhaus G, et al. Multifocal gastric gastrointestinal stromal tumors (GISTs) with lymph node metastases in children and young adults: A comparative clinical and histomorphological study of three cases including a new case of Carney triad. Diagn Pathol 2011;6:52.  Back to cited text no. 5
Kuroiwa M, Hiwatari M, Hirato J, Suzuki N, Tsuchida Y, Shimada A, et al. Advanced-stage gastrointestinal stromal tumor treated with imatinib in a 12-year-old girl with a unique mutation of PDGFRA. J Pediatr Surg 2005;40:1798-801.  Back to cited text no. 6
Agaimy A, Carney JA. Lymphatics and D2-40/podoplanin expression in gastrointestinal stromal tumours of the stomach with and without lymph node metastasis: An immunohistochemical study with special reference to the Carney triad. J Clin Pathol 2010;63:229-34.  Back to cited text no. 7
Durham MM, Gow KW, Shehata BM, Katzenstein HM, Lorenzo RL, Ricketts RR. Gastrointestinal stromal tumors arising from the stomach: A report of three children. J Pediatr Surg 2004;39:1495-9.  Back to cited text no. 8
Mullassery D, Weldon CB. Pediatric/”Wildtype” gastrointestinal stromal tumors. Semin Pediatr Surg 2016;25:305-10.  Back to cited text no. 9
Prakash S, Sarran L, Socci N, DeMatteo RP, Eisenstat J, Greco AM, et al. Gastrointestinal stromal tumors in children and young adults: A clinicopathologic, molecular, and genomic study of 15 cases and review of the literature. J Pediatr Hematol Oncol 2005;27:179-87.  Back to cited text no. 10
Ilari M, Nino F, Zangari A, Torino G, Tallarico R. Paediatric gastrointestinal stromal tumours arising from the stomach: A clinicopathologic review of 85 cases. J Pediatr Neonatal Care 2014;1:00041.  Back to cited text no. 11
Willobee BA, Quiroz HJ, Sussman MS, Thorson CM, Sola JE, Perez EA. Current treatment strategies in pediatric gastrointestinal stromal cell tumor. Transl Gastroenterol Hepatol 2018;3:53.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3]


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