Malignancies associated with GIST: a retrospective study with molecular analysis of KIT and PDGFRA

  • Patrick Mayr
  • Bruno MärklEmail author
  • Abbas Agaimy
  • Bernadette Kriening
  • Sebastian Dintner
  • Gerhard Schenkirsch
  • Regine Schneider-Stock
Original Article



Gastrointestinal stromal tumors (GISTs) are the most common soft tissue tumors of the GI tract. Studies have been published reporting additional neoplasms in GIST patients. This study aimed to evaluate possible associations of mutation type, morphology, and clinical aspects of GISTs.


All cases of GIST were identified from our pathology files. Coding exons of KIT and PDGFRA in GISTs with additional malignancies were sequenced.


A total of 70 of 188 (37%) retrieved patients with confirmed diagnosis of GIST showed at least one additional malignant neoplasm. Fifty of these GISTs were located in the stomach (71%), 8 in the small intestine (11%), 5 in the colon/rectum (7%), and 7 cases (6.2%) were of undetermined sites of origin. The distribution of identified mutations was similar to that described in GISTs without secondary malignancies. A total of 37 of 57 cases (65%) showed mutations in the KIT gene exon 11, 3 (5%) cases in exon 9, and 1 (2%) case in exon 13. Nine tumors (16%) had mutations of the PDGFRA gene. KIT and PDGFRA wild-type status were found in seven cases (12%). Most of the secondary neoplasms were located within the GI tract (34%), in the urogenital system (24%), or the breast/female genital tract (20%).


This study confirms the high rate of additional malignant tumors in GIST patients. GIST features in these cases are very similar to those with sole GIST.


Gastrointestinal stromal tumor GIST Mutation Additional/secondary malignancy KIT PDGFRA 



We would like to thank Mrs. Monika Müller and Mr. Kai Hebick, both at clinical center Augsburg, for the acquisition of paraffin-embedded tissue and data management as well as Mrs. Ingrid Mons, Department of Pathology of the University of Erlangen, for the support in molecular analysis.

Authors’ contributions

Patrick Mayr: study design, data acquisition and interpretation, manuscript drafting. Bruno Märkl: manuscript drafting and study design.Abbas Agaimy: manuscript drafting and data interpretation. Bernadette Kriening: data acquisition. Sebastian Dintner: data analysis and data acquisition. Gerhard Schenkirsch: data acquisition. Regine Schneider-Stock: study design, data acquisition and interpretation, and manuscript drafting.


This study was financially supported by Novartis AG. There was no influence on the study design, aim, or data analysis.

Compliance with ethical standards

This study was approved by the ethical board of Klinikum Augsburg.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Institute of Pathology, Klinikum AugsburgAugsburgGermany
  2. 2.Department of RadiooncologyKlinikum AugsburgAugsburgGermany
  3. 3.Department of PathologyFAU Erlangen-NürnbergErlangenGermany
  4. 4.Department of Visceral SurgeryKlinikum AugsburgAugsburgGermany
  5. 5.Clinical and Population-Based Cancer Registry of AugsburgKlinikum AugsburgAugsburgGermany
  6. 6.Experimental Tumor pathology, Department of PathologyFAU Erlangen-NürnbergErlangenGermany

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