J Korean Surg Soc.  2011 Oct;81(4):276-280. 10.4174/jkss.2011.81.4.276.

Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1

• Namgung H

• KMID: 1445749
• DOI: http://doi.org/10.4174/jkss.2011.81.4.276

Abstract

Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for CD117, CD34 and negative for S-100, smooth muscle actin. Molecular analysis for activating mutations of KIT and PDGFRA was performed in two tumors. Contrary to sporadic GISTs, the NF1-associated GISTs are characterized by rare mutations of KIT or PDGFRA. But, one missense point mutation (Trp557Gly) was identified in KIT exon 11 of the extramural portion of the largest tumor in this case. The intramural portion of the largest tumor and the other tumor had wild type KIT and PDGFRA.

Keyword

Gastrointestinal stromal tumors; Neurofibromatosis type 1; KIT; Mutation

MeSH Terms

Actins
Cytoplasm
Eosinophils
Exons
Female
Gastrointestinal Stromal Tumors
Humans
Middle Aged
Muscle, Smooth
Neurofibromatoses
Neurofibromatosis 1
Point Mutation
Actins

Figure

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  Fig. 1 Abdominal computed tomography scans shows a large jejunal mass with several smaller masses and numerous small enhancing nodules at abdominal wall.

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  Fig. 2 The resected segment of the jejunum shows a main tumor and numerous small nodular masses.

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  Fig. 3 Tumors are composed of interlacing fascicles of uniform spindle cells with eosinophilic cytoplasm and elongated nuclei (H&E, ×100).

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  Fig. 4 Tumor cells are positive for KIT, CD117 (×200).

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  Fig. 5 Sequencing of genomic DNA of the largest tumor demonstrates a missense point mutation of KIT exon 11 (Trp557Gly, 1669T>G).

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