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Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e318261032a
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KIT Gene Deletion in a Gastrointestinal Stromal Tumor of the Small Intestine

Uccini, Stefania*; Duranti, Enrico*; Al-Jadiry, Mazin Faisal§; Al-Hadad, Salma Abbas§; Testi, Anna Maria; Dominici, Carlo

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*Department of Clinical and Molecular Medicine

Department of Hematology

Department of Pediatrics, La Sapienza University, Rome, Italy

§Children Welfare Teaching Hospital, Baghdad College of Medicine, Iraq.

Address correspondence and reprint requests to Stefania Uccini, MD, Dipartimento di Medicina Clinica e Molecolare, Ospedale Sant’Andrea, Via di Grottarossa 1035, 00189 Roma, Italy (e-mail: stefania.uccini@uniroma1.it).

This study is part of the collaborative program “Together” between Sapienza University of Rome, Italy, and the Children Welfare Teaching Hospital, Baghdad College of Medicine, Iraq. The program is partially supported by the Italian “Ministero degli Affari Esteri,” European Space Agency (ESA), “Telecomunicazioni Italiane” (Telbios), and “Telespazio,” Satellite Services. The framework of the cooperation is supported by INTERSOS, a nonprofit humanitarian aid organization.

The authors report no conflicts of interest.

Submissions for the Image of the Month should include high-quality TIF endoscopic images of unusual or informative findings. In addition, 1 or 2 other associated photographs, such as radiological or pathological images, can be submitted. A brief description of no more than 200 words should accompany the images. Submissions are to be made online at www.jpgn.org, and will undergo peer review by members of the NASPGHAN Endoscopy and Procedures Committee, as well as by the Journal.

A 4-year-old boy presented with a history of abdominal pain lasting 3 months. Computerized tomography scan detected a large, rounded jejunal mass (7 cm) that was surgically removed. Histology showed a pleomorphic gastrointestinal stromal tumor (GIST); at immunohistochemistry, neoplastic cells markedly expressed KIT protein (CD117) (Fig. 1) and CD34 with a high (10%) Ki67 proliferative activity. Based on prognostic criteria identified in adult GISTs (1,2), a diagnosis of high-risk GIST with malignant clinical behavior was established. Mutational analysis and direct sequencing of KIT gene exons 9 and 11 demonstrated a deletion of 19 codons (from 554 to 572) in exon 11 with no mutations in exon 9 (Fig. 2). No mutations in exons 12 and 18 of the PDGFRA gene were identified. The child remained disease free for the subsequent 18 months, when a local relapse caused intestinal obstruction. The parents refused further treatment and the child died at home.

Figure 1
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Figure 2
Figure 2
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Pediatric GISTs are rare, they infrequently harbor KIT or PDGFRA gene mutations, and their clinical course is somewhat unpredictable (3,4). This was a case of pediatric GIST whose molecular and clinical characteristics suggest that tumor size, mitotic rate, and KIT exon 11 mutations should be considered reliable prognostic criteria, even in pediatric GISTs.

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Acknowledgments

The authors thank Anna Pasquini and Caterina Talerico for excellent and skilful technical assistance. The authors highly appreciated the precious support and the efforts of Saverio Ojetti of the INTERSOS in the organization of the network between Italy and Iraq.

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REFERENCES

1. Fletcher C, Berman J, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol 2002; 33:459–465.

2. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 2006; 23:70–83.

3. Pappo AS, Janeway KA. Pediatric gastrointestinal stromal tumors. Hematol Oncol Clin N Am 2009; 23:15–34.

4. Agaram NP, Laquaglia MP, Ustun B, et al. Molecular characterization of pediatric gastrointestinal stromal tumors. Clin Cancer Res 2008; 14:3204–3215.

© 2014 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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