Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors)

Julie A. Breiner, Jeanne Meis-Kindblom, Lars Gunnar Kindblom, Erin McComb, Jian Liu, Marilu Nelson, Julia A. Bridge

Research output: Contribution to journalArticle

70 Scopus citations


Gastrointestinal stromal tumors (GISTs), also referred to as 'gastrointestinal pacemaker cell tumors (GIPACT)' are mesenchymal neoplasms that are phenotypically similar to the interstitial cells of Cajal (ICC). Cytogenetic studies of this entity are rare and molecular cytogenetic studies utilizing chromosome-specific probes are nonexistent. In the current study, cytogenetic and molecular cytogenetic analysis of 12 histologically and immunohistochemically confirmed GISTs revealed loss of a whole chromosome 14 or region(s) of 14q in 8 tumors evaluated (67%) and loss of a whole chromosome 22 or region(s) of 22q in 8 (67%) patients. Loss of 14q and 22q were observed in histologically benign and malignant GISTs. Structural rearrangements of chromosome 1 were observed in 2 malignant GISTs. These findings indicate that loss of 14q and 22q are nonrandom, early events in GIST tumorigenesis and suggest that tumor suppressor genes responsible for the development of this neoplasm may be located on these chromosomal arms. Copyright (C) 2000 Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)111-116
Number of pages6
JournalCancer genetics and cytogenetics
Issue number2
StatePublished - Jul 15 2000

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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