| Gastrointestinal stromal tumor and other primary metachronous or synchronous neoplasms as a suspicion criterion for syndromic setting. | |
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MedLine Citation:
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PMID: 20043105 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Gastrointestinal stromal tumors (GISTs) may be sporadic or inherited. Although KIT and PDGFRA activating mutations are the oncogenic mechanisms in most sporadic and inherited GISTs, a small subset of GISTs are negative for both. Besides the classical Familial GIST Syndrome, GIST can occur as part of multi-neoplastic disease. The present study was designed to analyze the synchronous and metachronous tumors developed among GIST patients assessed by our institution for GIST Syndrome setting recognition. Patients (n=141) with primary GIST (77 men and 64 women) were recruited between 1988 and 2007 and their clinical and pathological records were reviewed. Mutation analysis of KIT, PDGFRA, NF1 and MMR genes was performed on somatic and peripheral blood DNA. GISTs occurred associated with other primary malignancies in 46 of 141 (32.6%) patients. The most common neoplasms were gastrointestinal and genitourinary. A novel exon 6 germline large deletion of NF1 was identified in the NF1/GIST kindred. The development of GIST associated with other neoplasms is common and diagnosis of peculiar benign associated-neoplasms warrants the search for familial cancer susceptibility. In particular, syndromic or familial settings have to be suspected in the presence of neurofibroma or lung chordoma in C-KIT and PDGFRA negative GIST patients. |
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Authors:
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Giovanni Ponti; Gabriele Luppi; Davide Martorana; Giulio Rossi; Lorena Losi; Federica Bertolini; Giuliana Sartori; Giovanni Pellacani; Stefania Seidenari; Elisa Boni; Tauro Maria Neri; Enrico Silini; Elisa Tamburini; Antonio Maiorana; Pier Franco Conte |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Oncology reports Volume: 23 ISSN: 1791-2431 ISO Abbreviation: Oncol. Rep. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2009-12-31 Completed Date: 2010-03-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9422756 Medline TA: Oncol Rep Country: Greece |
Other Details:
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Languages: eng Pagination: 437-44 Citation Subset: IM |
Affiliation:
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Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy. ponti.giovanni@unimo.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Carney Complex / complications, genetics DNA Mutational Analysis / methods Diagnosis, Differential Female Gastrointestinal Stromal Tumors / complications, diagnosis*, genetics Genes, Neurofibromatosis 1 Humans Male Middle Aged Neoplasms, Multiple Primary / diagnosis*, genetics Neoplasms, Second Primary / diagnosis*, genetics Neurofibromatoses / complications, diagnosis, genetics Pedigree Retrospective Studies Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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