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Gene Mutations and Prognostic Factors Analysis in Extragastrointestinal Stromal Tumor of a Chinese Three-Center Study

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Journal of Gastrointestinal Surgery Aims and scope

Abstract

Background

Most gastrointestinal stromal tumors (GISTs) have gain-of-function mutation of the c-kit gene, and some have mutation of the platelet-derived growth factor receptor-α (PDGFR-α) gene. Extragastrointestinal stromal tumors (EGISTs) are mesenchymal tumors that occur outside the digestive tract. But the clinicopathologic characteristics of EGISTs are still poorly understood.

Methods

Paraffin-embedded tissues from 25 cases of EGIST were analyzed for CD117, CD34, Ki-67, S-100, smooth muscle actin, and desmin expression by immunohistochemical method. These cases of EGISTs were also evaluated for the presence of c-kit exons 9, 11, 13, and 17 mutations and PDGFR-α exons 12 and 18 mutations. Survival analysis was used to evaluate the prognostic factors.

Results

c-kit mutations were detected in 44% of EGIST patients and all were exon 11 mutations. PDGFR-α mutations were found in 12% of the 25 cases and all were exon 18 mutations. Survival analysis indicated that mitotic count and Ki-67 labeling index (Ki-67 LI) were significant predictors of survival.

Conclusion

The pattern of c-kit and PDGFR-α mutation in EGISTs was essentially similar to that in GISTs. From the molecular genetics aspect, EGISTs may be a special subtype of GISTs. The results also show that the combination of mitotic counts and Ki-67 LI may be useful for predicting the prognosis of EGISTs.

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Acknowledgements

The authors express their sincerest thanks to Tang XL and Tong WJ for the technical assistance and to Jin X for the language editing.

This material is based upon works funded by Zhejiang Provincial Natural Science Foundation of China (Y2080968), Science and Technology Development Project of Hangzhou, Zhejiang Province, China (20080333B08), and Medical Science Research Fund of Zhejiang Province, China (2008B143).

Conflict of Interest Statement

There are no conflicts of interest to declare.

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Authors and Affiliations

  1. Department of Oncology, Hangzhou First People’s Hospital of Zhejiang Province, Hangzhou, 310006, China

    Song Zheng & Yue-long Pan

  2. Department of Emergency, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China

    Ke-er Huang

  3. Department of Oncology, Taizhou Hospital of Zhejiang Province, Taizhou, 317700, China

    De-you Tao

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  1. Song Zheng
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  2. Ke-er Huang
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Correspondence to Song Zheng.

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Zheng, S., Huang, Ke., Tao, Dy. et al. Gene Mutations and Prognostic Factors Analysis in Extragastrointestinal Stromal Tumor of a Chinese Three-Center Study. J Gastrointest Surg 15, 675–681 (2011). https://doi.org/10.1007/s11605-010-1292-x

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  • DOI: https://doi.org/10.1007/s11605-010-1292-x

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