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Pediatric GIST Summary and Publications

Information on GISTs occurring in children and young adults consists mainly of descriptive individual case reports (see the bibliography on Pediatric GIST on our GIST Bibliography page). Symptoms of GIST in children include hematemesis (vomiting blood), anemia accompanied by fatigue, and tarry stools.

There are a few recent review papers describing series of cases that are more informative than earlier single case reports (Kerr at al, 1999; Cypriano e al, 2004; Durham et al, 2004; Prakash et al, 2005; Price et al, 2005). Pediatric GIST (defined as cases in persons 0-18 years old) is more common in girls than in boys. Most cases occur in the stomach, and these generally involve multiple tumor nodules (multifocal disease). Several authors report pediatric GIST having spread to lymph nodes; in contrast, lymph node involvement is rare in adult cases. Pediatric GIST appears more likely to recur in the original location than adult GIST. Pediatric GIST may be less likely than adult GIST to metastasize, but metastasis to the liver is the most frequent site. Finally, the course of the disease appears to be less aggressive in pediatric cases, as judged by survival for many years after the appearance of liver metastases.

Only a few pediatric GISTs have been tested for gene mutations, but of 9 reported cases 8 are wild-type (unmutated) for c-kit and for PDGFRA (Prakash et al, 2005; Price et al, 2005; Li et al, 2002). One case of mutant exon 9 has been described (Price et al, 2005) in a boy with gastric GIST.

Prakash et al (2005) did mutation and gene expression testing on both pediatric GIST patients and young adults (19-30 years old) with GIST. Interestingly, the young adults displayed a different mutation pattern than older adult GIST patients: 3 were wild-type (all females with gastric GIST), and 3 showed exon 9 mutations, while only 4 showed the exon 11 mutations found in the majority of cases of GIST in older adults. These authors also found differing gene expression patterns in the pediatric and young patients compared to older adults.

Knowledge about pediatric GIST is still sparse, but it appears to have features that contrast with sporadic GIST in middle-aged and older adults. The mutations causing pediatric GIST have not been identified.

There are a few reports of congenital GIST presenting as intestinal obstruction soon after birth (Wu et al, 1999; Bates et al, 2000; Geramizadeh et al, 2005). Little testing was done on these cases, but surgery is reported to have solved the problem without recurrence.

Pediatric GIST papers

Papers are arranged alphabetically by name of the first author.
To see the abstract of the paper in PubMed, click the title.  Some papers are free-access.

Bates AW, Feakins RM, Scheimberg I.
 Congenital gastrointestinal stromal tumour is morphologically indistinguishable from the adult form, but does not express CD117 and carries a favourable prognosis.
Histopathology. 2000 Oct;37(4):316-22. Review.
PMID: 11012738 

Carney JA, Stratakis CA.
 Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.
Am J Med Genet. 2002 Mar 1;108(2):132-9.
PMID: 11857563 [PubMed - indexed for MEDLINE]

Corless CL, Fletcher JA, Heinrich MC.
 Biology of gastrointestinal stromal tumors.
J Clin Oncol. 2004 Sep 15;22(18):3813-25. Review.
PMID: 15365079 
NOTE: This paper and others from authors Heinrich and Corless may be obtained IN FULL from their website if you link and then click "Publications" in the left-hand column..

Cypriano MS, Jenkins JJ, Pappo AS, Rao BN, Daw NC.
 Pediatric gastrointestinal stromal tumors and leiomyosarcoma.
Cancer. 2004 Jul 1;101(1):39-50.
PMID: 15221987 

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 Oct;39(10):1495-9.
PMID: 15486893 

Egloff A, Lee EY, Dillon JE.
 Gastrointestinal stromal tumor (GIST) of stomach in a pediatric patient.
Pediatr Radiol. 2005 Jul;35(7):728-9.  No abstract available.
PMID: 15800780 

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 Mar;40(3):572-4.
PMID: 15793738 

Hayashi Y, Okazaki T, Yamataka A, Yanai T, Yamashiro Y, Tsurumaru M, Kajiyama Y, Miyano T.
 Gastrointestinal stromal tumor in a child and review of the literature.
Pediatr Surg Int. 2005 Nov;21(11):914-7. Review.
PMID: 16240136

Haider N, Kader M, Mc Dermott M, Devaney D, Corbally MT, Fitzgerald RJ.
 Gastric stromal tumors in children.
Pediatr Blood Cancer. 2004 Feb;42(2):186-9.
PMID: 14752885

Hughes JA, Cook JV, Said A, Chong SK, Towu E, Reidy J.
 Gastrointestinal stromal tumour of the duodenum in a 7-year-old boy.
Pediatr Radiol. 2004 Dec;34(12):1024-7. Epub 2004 Oct 15.
PMID: 15490151

Iwasaki M, Morimoto T, Sano K, Fukumitsu K, Takeda R, Iwata S, Nakamura Y,
Yasui H, Urata Y, Mukaihara S.
 A case of pediatric gastrointestinal stromal tumor of the stomach.
Pediatr Int. 2005 Feb;47(1):102-4. Review. 
PMID: 15693878

Kau W, Stessel U, Schoellnast H.
 [Gastric stromal tumor in childhood--a rare diagnosis with an initial consideration of Hodgkin's disease]
Rofo. 2006 Jan;178(1):112-4. German. No abstract available.
PMID: 16392067 

Kennedy AP Jr, Cameron B, Dorion RP, McGill C.
 Pediatric intestinal leiomyosarcomas: case report and review of the literature.
J Pediatr Surg. 1997 Aug;32(8):1234-6. Review.
PMID: 9269977 

Kerr JZ, Hicks MJ, Nuchtern JG, Saldivar V, Heim-Hall J, Shah S, Kelly DR, Cain WS, Chintagumpala MM.
 Gastrointestinal autonomic nerve tumors in the pediatric population: a report of four cases and a review of the literature.
Cancer. 1999 Jan 1;85(1):220-30. Review.
PMID: 9921996 

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 Nov-Dec;14(6):1005-16.
PMID: 7855003 

Kuroiwa M, Hiwatari M, Hirato J, Suzuki N, Tsuchida Y, Shimada A, Shitara T, Taki T, Hayashi Y.
 Advanced-stage gastrointestinal stromal tumor treated with imatinib in a 12-year-old girl with a unique mutation of PDGFRA.
J Pediatr Surg. 2005 Nov;40(11):1798-801.
PMID: 16291174

Li P, Wei J, West AB, Perle M, Greco MA, Yang GC.
 Epithelioid gastrointestinal stromal tumor of the stomach with liver metastases in a 12-year-old girl: aspiration cytology and molecular study.
Pediatr Dev Pathol. 2002 Jul-Aug;5(4):386-94. 
PMID: 12198577 

Lowe EJ, Jenkins JJ, Hoffer FA, Lobe TE, Santana VM.
 Anemia and a large abdominal tumor in an adolescent.
Pediatr Blood Cancer. 2004 Feb;42(2):200-4. No abstract available.
PMID: 14752888 

Oguzkurt P, Akcoren Z, Senocak ME, Caglar M, Buyukpamukcu N.
 A huge gastric stromal tumor in a 13-year-old girl.
Turk J Pediatr. 2002 Jan-Mar;44(1):65-8.
PMID: 11858384 

O'Sullivan MJ, McCabe A, Gillett P, Penman ID, MacKinlay GA, Pritchard J.
 Multiple gastric stromal tumors in a child without syndromic association lacks common KIT or PDGFRalpha mutations.
Pediatr Dev Pathol. 2005 Nov-Dec;8(6):685-9. 
PMID: 16328663

Prakash S, Sarran L, Socci N, DeMatteo RP, Eisenstat J, Greco AM, Maki RG, Wexler LH, LaQuaglia MP, Besmer P, Antonescu CR.
 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 Apr;27(4):179-87. Review.
PMID: 15838387 

Price VE, Zielenska M, Chilton-MacNeill S, Smith CR, Pappo AS.
 Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs).
Pediatr Blood Cancer. 2005 Jul;45(1):20-4.
PMID: 15795882 

Sebire NJ, Ramsay A, Malone M, Risdon R.
 Pathology teach and tell: pediatric gastrointestinal stromal tumor.
Pediatr Pathol Mol Med. 2003 May-Jun;22(3):259-64. No abstract available.
PMID: 12746177 

Smithey BE, Pappo AS, Hill DA.
 C-kit expression in pediatric solid tumors: a comparative immunohistochemical study.
Am J Surg Pathol. 2002 Apr;26(4):486-92.
PMID: 11914627 

Wu SS, Buchmiller TL, Close P, Gershman GB, Peng SK, French SW.
 Congenital gastrointestinal pacemaker cell tumor.
Arch Pathol Lab Med. 1999 Sep;123(9):842-5.
PMID: 10458837 

Yamamoto H, Tsuchiya T, Ishimaru Y, Kisaki Y, Fujino J, Uchida H, Yoshida M, Mori Y, Ikeda H.
 Infantile intestinal leiomyosarcoma is prognostically favorable despite histologic aggressiveness: case report and literature review.
J Pediatr Surg. 2004 Aug;39(8):1257-60. Review.
PMID: 15300540 



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