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

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    Authors
    Yantiss, Rhonda K.
    Rosenberg, Andrew E.
    Sarran, Lisa
    Besmer, Peter
    Antonescu, Cristina R.
    UMass Chan Affiliations
    Department of Pathology
    Document Type
    Journal Article
    Publication Date
    2004-11-13
    Keywords
    Adult
    Aged
    Aged, 80 and over
    Antigens, CD34
    Base Sequence
    DNA Mutational Analysis
    DNA, Neoplasm
    Fatal Outcome
    Female
    Gastrointestinal Stromal Tumors
    Humans
    Immunohistochemistry
    Male
    Middle Aged
    Mutation
    Neurofibromatosis 1
    Proto-Oncogene Proteins c-kit
    Receptor, Platelet-Derived Growth Factor alpha
    Vimentin
    Life Sciences
    Medicine and Health Sciences
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    Link to Full Text
    http://dx.doi.org/10.1038/modpathol.3800334
    Abstract
    Multiple gastrointestinal stromal tumors typically occur in familial form associated with KIT receptor tyrosine kinase or platelet-derived growth factor receptor-alpha (PDGFRA) germline mutations, but may also develop in the setting of type 1 neurofibromatosis. The molecular abnormalities of gastrointestinal stromal tumors arising in neurofibromatosis have not been extensively studied. We identified three patients with type 1 neuro-fibromatosis and multiple small intestinal stromal tumors. Immunostains for CD117, CD34, desmin, actins, S-100 protein, and keratins were performed on all of the tumors. DNA was extracted from representative paraffin blocks from separate tumor nodules in each case and subjected to a nested polymerase chain reaction, using primers for KIT exons 9, 11, 13, and 17 and PDGFRA exons 12 and 18, followed by direct sequencing. The mean patient age was 56 years (range: 37-86 years, male/female ratio: 2/1). One patient had three tumors, one had five, and one had greater than 10 tumor nodules, all of which demonstrated histologic features characteristic of gastrointestinal stromal tumors and stained strongly for CD117 and CD34. One patient died of disease at 35 months, one was disease free at 12 months and one was lost to follow-up. DNA extracts from 10 gastrointestinal stromal tumors (three from each of two patients and four from one patient) were subjected to polymerase chain reactions and assessed for mutations. All of the tumors were wild type for KIT exons 9, 13, and 17 and PDGFRA exons 12 and 18. Three tumors from one patient had identical point mutations in KIT exon 11, whereas the other tumors were wild type at this locus. We conclude that, although most patients with type 1 neurofibromatosis and gastrointestinal stromal tumors do not have KIT or PDGFRA mutations, KIT germline mutations might be implicated in the pathogenesis of gastrointestinal stromal tumors in some patients.
    Source
    Mod Pathol. 2005 Apr;18(4):475-84. Link to article on publisher's site
    DOI
    10.1038/modpathol.3800334
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/38507
    PubMed ID
    15540118
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1038/modpathol.3800334
    Scopus Count
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