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Year : 2017  |  Volume : 6  |  Issue : 2  |  Page : 90-93

Congenital gastrointestinal stromal tumor: A rare case with rarer presentation

Department of Pathology, Lady Hardinge Medical College, New Delhi, India

Date of Web Publication13-Apr-2017

Correspondence Address:
Akanksha Jain
12/2, Second Floor, Sarvapriya Vihar, New Delhi - 110 016
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_170_15

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Gastrointestinal stromal tumors (GISTs) are the most common nonepithelial tumors of the gastrointestinal tract. Adults between fifth and seventh decades of life are most often affected. GIST is rare in pediatric age group, and GIST in neonates is so rare that not much is known about their clinical presentation and behavior. We report a case of congenital GIST in a term male neonate who presented with acute abdomen. The tumor had caused distal ileal obstruction leading to dilatation of the proximal segment associated with perforation peritonitis. The involved intestinal segment was excised, and end-to-end anastomosis was performed; however, the newborn succumbed to postsurgery. The tumor histomorphologically resembled adult GIST with spindle and epithelioid areas. Immunohistochemically, the tumor was positive for vimentin, however was negative for actin, desmin, S-100, CD34 as well as c-Kit (CD117). This is probably the first case of a congenital GIST causing intestinal obstruction associated with perforation peritonitis. The report highlights the point of distinction between adult and congenital GIST, in terms of clinical presentation, histochemical markers, prognostic factors, and behavior.

Keywords: CD117, congenital, gastrointestinal stromal tumor, ileum, perforation, prognosis

How to cite this article:
Jain M, Jain A, Madan NK, Beniwal A. Congenital gastrointestinal stromal tumor: A rare case with rarer presentation. J Clin Neonatol 2017;6:90-3

How to cite this URL:
Jain M, Jain A, Madan NK, Beniwal A. Congenital gastrointestinal stromal tumor: A rare case with rarer presentation. J Clin Neonatol [serial online] 2017 [cited 2021 Jan 23];6:90-3. Available from: https://www.jcnonweb.com/text.asp?2017/6/2/90/204510

  Introduction Top

Neonatal tumors are rare tumors which comprise 0.5%–2% of all pediatric tumors. These include teratoma, neuroblastoma, retinoblastoma, central nervous system tumors, leukemia, Wilm's tumor, hepatoblastoma, and soft tissue sarcomas.[1] Gastrointestinal stromal tumors (GISTs) are exceptionally rare tumors in newborns. To the best of our knowledge, only seven cases of congenital GISTs are reported in the English literature.[2],[3],[4],[5],[6],[7] These tumors arise from the interstitial cells of Cajal found in the gastrointestinal stroma. They show varied differentiation including smooth muscle, neural, both smooth muscle and neural, whereas some are undifferentiated.[5] There are reports suggesting that clinicopathologic features and molecular biology of congenital GISTs are different from the GISTs that occur in older children/adults.[4] These tumors have a favorable prognosis and are usually treated with surgery which is curative. We report a case of a congenital GIST which was complicated by perforation peritonitis causing death in the neonatal period.

  Case Report Top

A 4-day-old, term male neonate presented to the emergency department with lethargy and acute abdominal distention. The neonate was severely anemic and his pulse was feeble. On abdominal X-ray, gas under diaphragm was noticed. After adequate resuscitation, exploratory laparotomy was performed. Surgeons found a massively dilated segment of ileum with a perforation measuring 1.5 cm in diameter. The involved segment was excised, and end-to-end anastomosis was performed. Postsurgery, the neonate's condition deteriorated and he could not be revived.

The gross specimen consisted of an already cut-opened segment of small intestine showing a tumor mass at one end, measuring 4 cm in length, diffusely infiltrating the wall, and showing a defect at the most dilated part (? perforation) [Figure 1]a. Microscopically, the sections showed a highly cellular tumor diffusely and extensively infiltrating all the layers of intestine reaching up to the serosal surface (? causing the perforation). The tumor was composed of epithelioid and spindled cells arranged in sheets [Figure 1]b and [Figure 1]c. Scattered mitotic figures were seen with mitotic rate <5/50 high-power fields, however there was no necrosis or calcification. Immunohistochemically, the cells were diffusely positive for vimentin [Figure 2]a. Smooth muscle actin, desmin, CD34, neuron-specific enolase, S100, chromogranin, synaptophysin, myoglobin, c-Kit (CD117), and keratin were all negative [Figure 2]b,[Figure 2]c,[Figure 2]d,[Figure 2]e,[Figure 2]f. Based on histopathological and immunohistochemical findings, a diagnosis of congenital gastrointestinal tumor, undifferentiated, was given.
Figure 1: (a) Segment of ileum showing a tumor mass at one end, having diffusely infiltrative margins and a defect (? perforation) (as shown with a black arrow), (b) microphotograph showing a tumor arranged in sheets, infiltrating all the layers of ileum (H and E, ×40), (c) tumor-comprising cells showing epithelioid and spindle cell morphology (H and E, ×400)

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Figure 2: (a) Tumor cells showing diffuse vimentin positivity (immunohistochemistry, ×400), (b-f) tumor cells negative for smooth muscle actin (b), S-100 (c), CD117 (d), desmin (e), CD34 (f) (immunohistochemistry, ×400)

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  Discussion Top

Stromal tumors of intestine include leiomyoma, leiomyosarcoma, fibrosarcoma, mesenchymoma, and solitary intestinal fibromatosis.[4] Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms of the GI tract and are most often of uncertain histogenesis.[8] These tumors arise from the interstitial cells of Cajal. These tumors are very rare in childhood with an incidence of 0.02 per million per year below 14 years of age.[9] Congenital GIST is exceptionally rare with only seven cases reported so far.[2],[3],[4],[5],[6],[7],[10] Most of the previous cases were presented with symptoms of intestinal obstruction in the postnatal period. In all these cases, the tumor arose from the wall of the intestine (ileum in three cases, jejunum in three, and cecum in one) [Table 1]. Clinical diagnosis of congenital GIST is often difficult due to the varied and frequently nonspecific symptoms. Gastrointestinal bleeding, obstruction, abdominal pain, weight loss, fever, and palpable abdominal mass are the most frequently encountered signs and symptoms.[2],[3],[4],[5],[6],[7],[10] We found only one previous reported case of a 5-day-old neonate who presented with perforation peritonitis in whom the GIST was associated with two concomitant small bowel malformations (jejunal atresia and stenosis).[10]
Table 1: Congenital gastrointestinal stromal tumors reported in literature

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All the neonatal GIST cases were treated with surgery alone where the tumors were resected leading to cure. All the neonates were alive without any disease at 1 year, except one who died at 2 months because of infection. They mostly showed spindled morphology with few showing epithelioid areas. CD117 was found to be negative in four of the previous seven cases. The index case too was negative for CD117.

Neonatal tumors are a heterogeneous group of neoplasms which differ in pathogenesis, clinical presentation, and behavior from neoplasms that occur in older children and adults.[11] It has been reported earlier that congenital GISTs mostly lack CD117 and CD34 positivity. This made us think whether congenital GIST is distinct from adult/pediatric GIST, or antigens are weakly expressed in neonatal period. We searched literature extensively and found reports suggesting that congenital GIST differs from the usual pediatric and adult GIST in many aspects. It affects both boys and girls equally, arises in intestines instead of the stomach, usually presents with intestinal obstruction, and morphologically shows more epithelioid cells, though 7%–15% of the pediatric cases demonstrate c-Kit or PDGFRA mutations. Expression of c-Kit and PDGFR mutation is not studied well in congenital GIST, though absence of c-Kit on immunohistochemistry is demonstrated in few studies [2],[3],[4],[5],[6],[7],[10] [Table 1].

Furthermore, the criteria for malignancy and prediction of outcome for adult cases are not applicable to congenital GIST, which has a better outcome. These tumors are effectively treated by surgical resection alone. Adjuvant radiation and chemotherapy are generally not recommended and recurrence is not described with these tumors.[2],[3],[4],[5],[6],[7] Another point of discussion was whether we should have considered a diagnosis of intestinal fibromatosis, as it tends to be poorly differentiated ultrastructurally as well as histologically, is shown to have a poor prognosis in neonates, and occasional cases have presented with intestinal perforation.[12] Having a mixed cell morphology on histopathology (spindle plus epithelioid), along with vimentin positivity and actin negativity, we considered a diagnosis of GIST over congenital fibromatosis. However, reviewers have commented that it is very difficult to differentiate these lesions and is a source of confusion, as it is far from clear that these different terms have been designated to define distinct nosologic entities.

Previously reported cases of congenital GIST have shown a good prognosis. In the index case, the neonate had a stormy postoperative course and could not be saved. Hence, it should be noted here that the prognosis of the lesion per se may be good but complications caused can be lethal. The radiologists carrying out a prenatal scanning should be aware of these conditions so that they are diagnosed and treated well in time to avoid complications.

  Conclusion Top

GIST is the most common nonepithelial tumor of the gastrointestinal tract in adults but is very rare in neonatal period. Congenital GIST is presumably different from adult GIST in pathogenesis, clinical presentation, and behavior, however more research is needed in this regard. The prognosis of GIST in neonates has been described to be good, nevertheless it can present with complications and affect the outcome of the patient.

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There are no conflicts of interest.

  References Top

Alamo L, Beck-Popovic M, Gudinchet F, Meuli R. Congenital tumors: Imaging when life just begins. Insights Imaging 2011;2:297-308.  Back to cited text no. 1
Wu SS, Buchmiller TL, Close P, Gershman GB, Peng SK, French SW. Congenital gastrointestinal pacemaker cell tumor. Arch Pathol Lab Med 1999;123:842-5.  Back to cited text no. 2
Shenoy MU, Singh SJ, Robson K, Stewart RJ. Gastrointestinal stromal tumor: A rare cause of neonatal intestinal obstruction. Med Pediatr Oncol 2000;34:70-1.  Back to cited text no. 3
Bates AW, Feakins RM, Scheimberg I. Congenital gastrointestinal stromal tumor is morphologically indistinguishable from the adult form, but does not express CD 117 and caries a favorable prognosis. Histopathology 2000;37:316-22.  Back to cited text no. 4
Geramizadeh B, Bahador A, Ganjei-Azar P, Asadi A. Neonatal gastrointestinal stromal tumor. Report of a case and review of literature. J Pediatr Surg 2005;40:572-4.  Back to cited text no. 5
Tanyeri B, Koku N, Demirci M, Karakök M, Citak EC. A rare cause of intestinal obstruction: Neonatal gastrointestinal stromal tumor. Pediatr Hematol Oncol 2011;28:155-8.  Back to cited text no. 6
Kurucu N, Sari N, Celasun B, Sarihan H, Ahmetoglu A, Ilhan IE. Gastrointestinal stromal tumor in a newborn diagnosed in prenatal period: A case report and review of literature. J Pediatr Hematol Oncol 2014;36:649-52.  Back to cited text no. 7
Appelman HD. Smooth muscle tumors of the gastrointestinal tract. What we know now that stout didn't know. Am J Surg Pathol 1986;10 Suppl 1:83-99.  Back to cited text no. 8
Stiller CA. Childhood Cancer in Britain: Incidence, Survival and Mortality. Oxford: Oxford University Press; 2007. p. 7-21.  Back to cited text no. 9
Stoica GA, Stepan AE, Malos A, Popa A, Georgescu CC, Stoica M, et al. Gastrointestinal stromal tumor, jejunal atresia and stenosis in a neonate. Rom J Morphol Embryol 2014;55 3 Suppl: 1253-7.  Back to cited text no. 10
Orbach D, Sarnacki S, Brisse HJ, Gauthier-Villars M, Jarreau PH, Tsatsaris V, et al. Neonatal cancer. Lancet Oncol 2013;14:e609-20.  Back to cited text no. 11
Numanoglu A, Davies J, Millar AJ, Rode H. Congenital solitary intestinal fibromatosis. Eur J Pediatr Surg 2002;12:337-40.  Back to cited text no. 12


  [Figure 1], [Figure 2]

  [Table 1]

This article has been cited by
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[Pubmed] | [DOI]


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