Modern Pathology

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Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study

Rhonda K Yantiss, Andrew E Rosenberg, Lisa Sarran, Peter Besmer and Cristina R Antonescu

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Figure 1 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Figure 1.

The patient (Case 1) had innumerable cutaneous tumors characterized by a spindle cell proliferation within the dermis and subcutaneous fat (a). The tumors were composed of a diffuse proliferation of spindle cells with elongate cytoplasm and 'buckled' nuclei admixed with numerous mast cells and were morphologically consistent with neurofibromas. An entrapped nerve is present at the top of the field (b).

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Figure 2.

Most of the tumor nodules were small, mural lesions with a homogeneous cut surface (Case 1).

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Figure 3.

The tumors were largely composed of plump spindle cells arranged in intersecting fascicles and were histologically similar to sporadic GISTs (Case 2).

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Figure 4.

Hyperplastic interstitial cells of Cajal, as demonstrated by a CD117 stain, were present in proximity to the tumors in one case (Case 2).

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Figure 5.

All tumors strongly expressed CD117 in a diffuse pattern (Case 2).

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Figure 6.

Point mutations in three GISTs from one patient (Case 1).

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