International Journal of Colorectal Disease

, Volume 21, Issue 1, pp 84–88 | Cite as

Differential diagnosis of gastrointestinal leiomyoma versus gastrointestinal stromal tumor

  • Jens Kuhlgatz
  • Bjoern Sander
  • Mariola Monika Golas
  • Bastian Gunawan
  • Thorsten Schulze
  • Hans-Jürgen Schulten
  • Eva Wardelmann
  • László Füzesi
Case Report

Abstract

Introduction

Strategies for the diagnosis of tumors arising in the intestinal muscular wall are rapidly evolving. Immunoreactivity for CD117 (KIT) usually supports the diagnosis of gastrointestinal stromal tumor (GIST), but a small subset of GISTs lacks KIT expression. In these cases the differential diagnosis of KIT-negative GIST versus one of their morphological mimics is difficult and bears critical implications for therapeutic management.

Case report

Here, we report a case of a KIT-negative smooth muscle cell tumor of the colon in a 21-year-old man with the clinical appearance of GIST. Mutations of the KIT and platelet-derived growth factor receptor alpha (PDGFRA) gene could be ruled out. No chromosomal imbalances characteristic of GIST were found. However, cytogenetic analysis revealed losses at 7q, which has previously been reported in cases of uterine leiomyoma.

Discussion

We discuss current approaches to the differential diagnosis of true gastrointestinal smooth muscle cell tumor versus GIST.

Keywords

Gastrointestinal leiomyoma GIST CGH KIT PDGFRA 

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Jens Kuhlgatz
    • 1
  • Bjoern Sander
    • 2
  • Mariola Monika Golas
    • 2
  • Bastian Gunawan
    • 2
  • Thorsten Schulze
    • 3
  • Hans-Jürgen Schulten
    • 2
  • Eva Wardelmann
    • 4
  • László Füzesi
    • 2
  1. 1.Department of General and Visceral SurgeryAlbert Schweitzer HospitalNortheimGermany
  2. 2.Department of PathologyUniversity of GöttingenGöttingenGermany
  3. 3.Department of RadiologyAlbert Schweitzer HospitalNortheimGermany
  4. 4.Department of PathologyUniversity of BonnBonnGermany

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