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Neonatal gastrointestinal stromal tumor. Report of a case and review of literature
Journal of Pediatric Surgery (2005) 40, 572 – 574
www.elsevier.com/locate/jpedsurg
CASE REPORTS
Neonatal gastrointestinal stromal tumor. Report of a case and review of literature Bita Geramizadeha,*, Ali Bahador a, Parvin Ganjei-Azar b, Ali Asadia a
Pathology Department, Medical School of Shiraz University, Shiraz 71344, Iran Miami University of Medical Sciences, Miami, FL 33101, USA
b
Index words: Gastrointestinal stromal tumor; Neonate; Undifferentiated
Abstract Gastrointestinal stromal tumor (GIST) is very rare in infancy. Most of the reported cases in the literature are in adults; some are in children but there are a few reported cases in the literature. The present case is a 6-day-old female neonate presenting with lethargy, poor feeding, constipation, abdominal distention, and rectal bleeding. She was operated on with the impression of intestinal obstruction, and right hemicolectomy was performed on her. Surgical specimen showed a well-defined and round 3-cm mass in the cecal area. Diagnosis was made by histologic and immunohistochemical studies which showed a GIST. The tumor showed positive vimentin and c-kit but negative for all other markers (desmin, actin, S100, NSE, and CD-34). So the case was an undifferentiated GIST. After 1 year of follow-up the patient was completely normal. D 2005 Elsevier Inc. All rights reserved.
The first reported childhood gastrointestinal stromal tumor (GIST) was reported in 1962, then known as gastric leiomyoblastoma [1]. After that, there were several other reports of nonepithelial mesenchymal tumors of the gastrointestinal tract, mostly in the stomach with smooth muscle differentiation, but nowadays the term has been changed to GIST [2]. Recently, diagnosis of GIST is based on histologic and immunohistochemical studies. They show 4 types of differentiation, that is, smooth muscle cell, neural and dual smooth muscle cell, and neural differentiation, and at last some of them lack any differentiation [3,4]. The most common location of these tumors is in the stomach [5]. Majority of the patients are middle-aged, and there are
* Corresponding author. Tel.: +98 711 627 6211; fax: +98 711 627 6211. E-mail address: [email protected] (B. Geramizadeh). 0022-3468/05/4003-0021$30.00/0 D 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2004.11.031
only rare case reports in children [6-8], but until now there are a few reported colonic GIST tumors in the neonatal period. So, in this report, we will discuss a very rare case of neonatal GIST and its clinical, histopathological, and prognostic findings.
1. Case report A 6-day-old female neonate, delivered by cesarean section, presented with lethary, poor feeding, abdominal distention, constipation, and rectal bleeding. She was operated on with the impression of intussusception, which was not reducible by barium enema. Surgical exploration showed a mass in the cecum. The pathological specimen showed a well-defined round 3-cm mass in the cecum (Fig. 1). The ileum was distended; otherwise, other parts of the intestine were completely normal.
Neonatal gastrointestinal stromal tumor. Report of a case and review of literature
Fig. 1
Gross of the tumor (arrow) in the cecum.
Microscopic examination of the tumor showed a hypercellular spindle cell tumor arising from muscularis propria (Fig. 2). Tumor cells were benign-looking with low mitotic figures (b1 per 10 HPF) and had no evidence of anaplasia (Fig. 3). No necrosis was present in this tumor. Immunohistochemcal studies showed only 2+ (of 4+) positivity in vimentin and c-kit, but all other markers were negative (desmin, actin, keratin, CD34, S100, and CD99). This is the first report of an undifferentiated GIST in the cecum of a neonate who was completely healthy after 1 year.
2. Discussion The most common nonepithelial tumors of the intestine are GISTs [8]. Majority of the cases are in adults and there are very few reports in children [6-10]. The most common location in this age group is in the stomach, and they are very rare in the colon [8]. In this age group, various types of
Fig. 2 Microscopic view of the tumor; note that the tumor has a clear transitional zone with the muscularis propria with no evidence of anaplasia and very few mitotic figure (H&E original magnification 250).
573
Fig. 3 High power view of the tumor (H&E original magnification 400).
differentiation has been reported. Overall, according to previous pediatric cases in the literature, the prognosis is better than in adults [9], and despite the presence of liver metastasis, complete excision of the mass and metastatic liver nodule show good prognosis [10]. However, neonatal GIST is extremely rare, and, overall, there are only 3 reported cases in the literature [11-13]. The presenting sign in all the 3 reported cases were intestinal obstruction early after birth. The reported GISTs in neonates had neural or smooth muscle differentiation and one of them was undifferentiated [11-13]. Two of the reported cases were male and one was female, so by adding our case until now neonatal GIST is equal in both sexes. All of the reported cases were in the small intestine. Another important feature of these tumors is prognostic factors. There is no definite criterion for predicting prognosis in GIST in neonates, but overall they seem to have good prognosis in this age group, and despite the presence of necrosis, high cellularity, and mitosis in the jejunumin in one of the reported cases, the patient was healthy after 1 year [11]. These criteria are better defined in adulthood: in the intestine high mitotic figures, size larger than 5 cm, and old age are the most important poor prognostic factors [14,15]. The present case, which is the first neonatal GIST in our institute and the fourth in the literature, is a 5-day-old female neonate, delivered by cesarean section, who presented with intestinal obstruction. She was operated on in emergency situation and right hemicolectomy was performed on her. Perioperative diagnosis was intusussception, which was not reducible by enema. The other unique point about our case is its site in the colon, which is very rare in the pediatric age group and has not been reported in neonates. Now after more than 1 year she is completely well with a normal weight gain.
References [1] Yannapoulos K, Stout PD. Smooth muscle tumors in childhood. Cancer 1962;15:958 - 71.
574 [2] Hamazao R, Shimizu N, Nishidoi H, et al. Gastric leiomyoblastoma in childhood. J Pediatr Surg 1991;26(2):225 - 7. [3] Erlandson RA, Klimstra DS, Woodruff JM. Subsclassification of gatrointestinal stromal tumors based on evaluation of electron microscopy and immunohistochemistry. Ultrastruct Pathol 1996;20:373 - 93. [4] Newman PL, Wadden C, Fletcher CDM. Gartointestinal stromal tumors: correlation of immunophenotype with clinicopathologic features. J Pathol 1991;164:107 - 17. [5] Ueyama T, Guo KJ, Hashimot H, et al. A clnicopathologic and immunohistochemical study of gastrointestinal stromal tumors. Cancer 1992;69:947 - 55. [6] Schaldenbrand JD, Appelman HD. Solitary stromal gastrointestinal tumors in Von Recklinghausen’s disease with minimal smooth muscle differentiation. Hum Pathol 1984;15:229 - 32. [7] Chadwick EG, Connor EJ, Hanson IC, et al. Tumors of smooth muscle origin in HIV infected children. JAMA 1990;263:3182 - 4. [8] Terada R, Ito S, Akama F, et al. Clinical and histopathological features of colonic stromal tumor in a child. J Gastroenterol 2000;35:456 - 9. [9] Kerr JZ, Hicks MJ, Nuchtern JG, et al. Gastrointestinal autonomic nerve tumors in the pediatric population: a report of four cases and a review of literature. Cancer 1999;85(1):220 - 30.
B. Geramizadeh et al. [10] Kodet R, Snajdauf J, Smelhaus V. Gastrointestinal autonomic nerve tumor: a case report with electron microscopic and immunohistochemical analysis and review of the literature. Pediatr Pathol 1994;14(6):1005 - 16. [11] Wu SS, Buchmiller TL, Close P, et al. Congenital gastrointestinal pacemaker cell tumor. Arch Pathol Lab Med 1999;123(9): 842 - 5. [12] Shenoy MU, Singh SJ, Roboson K, et al. Gastrointestinal stromal tumor: a rare cause of neonatal intestinal obstruction. Med Pediatr Oncol 2000;34(1):70 - 1. [13] Bates AW, Feakins RM, Scheimberg I. Congenital gastrointestinal stromal tumor is morphologically indistinguishable from adult form, but does not carries a favourable prognosis. Histopathology 2000;37(4):316 - 22. [14] Appelman HD. Mesenchymal tumors of the gastrointestinal tract. In: Goldman H, Ming SC, editors. Pathology of the gastrointestinal tract. Baltimore7 William & Wilkins; 1998. [15] Pierie JP, Choudry U, Muzikansky A, et al. The effect of surgery and grade on outcome of gastrointestinal stromal tumors. Arch Surg 2001;136(4):383 - 9.
www.elsevier.com/locate/jpedsurg
CASE REPORTS
Neonatal gastrointestinal stromal tumor. Report of a case and review of literature Bita Geramizadeha,*, Ali Bahador a, Parvin Ganjei-Azar b, Ali Asadia a
Pathology Department, Medical School of Shiraz University, Shiraz 71344, Iran Miami University of Medical Sciences, Miami, FL 33101, USA
b
Index words: Gastrointestinal stromal tumor; Neonate; Undifferentiated
Abstract Gastrointestinal stromal tumor (GIST) is very rare in infancy. Most of the reported cases in the literature are in adults; some are in children but there are a few reported cases in the literature. The present case is a 6-day-old female neonate presenting with lethargy, poor feeding, constipation, abdominal distention, and rectal bleeding. She was operated on with the impression of intestinal obstruction, and right hemicolectomy was performed on her. Surgical specimen showed a well-defined and round 3-cm mass in the cecal area. Diagnosis was made by histologic and immunohistochemical studies which showed a GIST. The tumor showed positive vimentin and c-kit but negative for all other markers (desmin, actin, S100, NSE, and CD-34). So the case was an undifferentiated GIST. After 1 year of follow-up the patient was completely normal. D 2005 Elsevier Inc. All rights reserved.
The first reported childhood gastrointestinal stromal tumor (GIST) was reported in 1962, then known as gastric leiomyoblastoma [1]. After that, there were several other reports of nonepithelial mesenchymal tumors of the gastrointestinal tract, mostly in the stomach with smooth muscle differentiation, but nowadays the term has been changed to GIST [2]. Recently, diagnosis of GIST is based on histologic and immunohistochemical studies. They show 4 types of differentiation, that is, smooth muscle cell, neural and dual smooth muscle cell, and neural differentiation, and at last some of them lack any differentiation [3,4]. The most common location of these tumors is in the stomach [5]. Majority of the patients are middle-aged, and there are
* Corresponding author. Tel.: +98 711 627 6211; fax: +98 711 627 6211. E-mail address: [email protected] (B. Geramizadeh). 0022-3468/05/4003-0021$30.00/0 D 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2004.11.031
only rare case reports in children [6-8], but until now there are a few reported colonic GIST tumors in the neonatal period. So, in this report, we will discuss a very rare case of neonatal GIST and its clinical, histopathological, and prognostic findings.
1. Case report A 6-day-old female neonate, delivered by cesarean section, presented with lethary, poor feeding, abdominal distention, constipation, and rectal bleeding. She was operated on with the impression of intussusception, which was not reducible by barium enema. Surgical exploration showed a mass in the cecum. The pathological specimen showed a well-defined round 3-cm mass in the cecum (Fig. 1). The ileum was distended; otherwise, other parts of the intestine were completely normal.
Neonatal gastrointestinal stromal tumor. Report of a case and review of literature
Fig. 1
Gross of the tumor (arrow) in the cecum.
Microscopic examination of the tumor showed a hypercellular spindle cell tumor arising from muscularis propria (Fig. 2). Tumor cells were benign-looking with low mitotic figures (b1 per 10 HPF) and had no evidence of anaplasia (Fig. 3). No necrosis was present in this tumor. Immunohistochemcal studies showed only 2+ (of 4+) positivity in vimentin and c-kit, but all other markers were negative (desmin, actin, keratin, CD34, S100, and CD99). This is the first report of an undifferentiated GIST in the cecum of a neonate who was completely healthy after 1 year.
2. Discussion The most common nonepithelial tumors of the intestine are GISTs [8]. Majority of the cases are in adults and there are very few reports in children [6-10]. The most common location in this age group is in the stomach, and they are very rare in the colon [8]. In this age group, various types of
Fig. 2 Microscopic view of the tumor; note that the tumor has a clear transitional zone with the muscularis propria with no evidence of anaplasia and very few mitotic figure (H&E original magnification 250).
573
Fig. 3 High power view of the tumor (H&E original magnification 400).
differentiation has been reported. Overall, according to previous pediatric cases in the literature, the prognosis is better than in adults [9], and despite the presence of liver metastasis, complete excision of the mass and metastatic liver nodule show good prognosis [10]. However, neonatal GIST is extremely rare, and, overall, there are only 3 reported cases in the literature [11-13]. The presenting sign in all the 3 reported cases were intestinal obstruction early after birth. The reported GISTs in neonates had neural or smooth muscle differentiation and one of them was undifferentiated [11-13]. Two of the reported cases were male and one was female, so by adding our case until now neonatal GIST is equal in both sexes. All of the reported cases were in the small intestine. Another important feature of these tumors is prognostic factors. There is no definite criterion for predicting prognosis in GIST in neonates, but overall they seem to have good prognosis in this age group, and despite the presence of necrosis, high cellularity, and mitosis in the jejunumin in one of the reported cases, the patient was healthy after 1 year [11]. These criteria are better defined in adulthood: in the intestine high mitotic figures, size larger than 5 cm, and old age are the most important poor prognostic factors [14,15]. The present case, which is the first neonatal GIST in our institute and the fourth in the literature, is a 5-day-old female neonate, delivered by cesarean section, who presented with intestinal obstruction. She was operated on in emergency situation and right hemicolectomy was performed on her. Perioperative diagnosis was intusussception, which was not reducible by enema. The other unique point about our case is its site in the colon, which is very rare in the pediatric age group and has not been reported in neonates. Now after more than 1 year she is completely well with a normal weight gain.
References [1] Yannapoulos K, Stout PD. Smooth muscle tumors in childhood. Cancer 1962;15:958 - 71.
574 [2] Hamazao R, Shimizu N, Nishidoi H, et al. Gastric leiomyoblastoma in childhood. J Pediatr Surg 1991;26(2):225 - 7. [3] Erlandson RA, Klimstra DS, Woodruff JM. Subsclassification of gatrointestinal stromal tumors based on evaluation of electron microscopy and immunohistochemistry. Ultrastruct Pathol 1996;20:373 - 93. [4] Newman PL, Wadden C, Fletcher CDM. Gartointestinal stromal tumors: correlation of immunophenotype with clinicopathologic features. J Pathol 1991;164:107 - 17. [5] Ueyama T, Guo KJ, Hashimot H, et al. A clnicopathologic and immunohistochemical study of gastrointestinal stromal tumors. Cancer 1992;69:947 - 55. [6] Schaldenbrand JD, Appelman HD. Solitary stromal gastrointestinal tumors in Von Recklinghausen’s disease with minimal smooth muscle differentiation. Hum Pathol 1984;15:229 - 32. [7] Chadwick EG, Connor EJ, Hanson IC, et al. Tumors of smooth muscle origin in HIV infected children. JAMA 1990;263:3182 - 4. [8] Terada R, Ito S, Akama F, et al. Clinical and histopathological features of colonic stromal tumor in a child. J Gastroenterol 2000;35:456 - 9. [9] Kerr JZ, Hicks MJ, Nuchtern JG, et al. Gastrointestinal autonomic nerve tumors in the pediatric population: a report of four cases and a review of literature. Cancer 1999;85(1):220 - 30.
B. Geramizadeh et al. [10] Kodet R, Snajdauf J, Smelhaus V. Gastrointestinal autonomic nerve tumor: a case report with electron microscopic and immunohistochemical analysis and review of the literature. Pediatr Pathol 1994;14(6):1005 - 16. [11] Wu SS, Buchmiller TL, Close P, et al. Congenital gastrointestinal pacemaker cell tumor. Arch Pathol Lab Med 1999;123(9): 842 - 5. [12] Shenoy MU, Singh SJ, Roboson K, et al. Gastrointestinal stromal tumor: a rare cause of neonatal intestinal obstruction. Med Pediatr Oncol 2000;34(1):70 - 1. [13] Bates AW, Feakins RM, Scheimberg I. Congenital gastrointestinal stromal tumor is morphologically indistinguishable from adult form, but does not carries a favourable prognosis. Histopathology 2000;37(4):316 - 22. [14] Appelman HD. Mesenchymal tumors of the gastrointestinal tract. In: Goldman H, Ming SC, editors. Pathology of the gastrointestinal tract. Baltimore7 William & Wilkins; 1998. [15] Pierie JP, Choudry U, Muzikansky A, et al. The effect of surgery and grade on outcome of gastrointestinal stromal tumors. Arch Surg 2001;136(4):383 - 9.