Gastrointestinal stromal tumor and other primary metachronous or synchronous neoplasms as a suspicion criterion for syndromic setting

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)437-444
Number of pages8
JournalOncology Reports
Issue number2
Publication statusPublished - Feb 2010


  • Chordoma
  • Familial cancer
  • Gastrointestinal stromal tumors
  • Neurofibroma
  • NF1

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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