Clinical and molecular pathological features of 17 cases of gastrointestinal leiomyo-mas with scattered expression of CD117 and DOG1
10.13315/j.cnki.cjcep.2025.10.009
- VernacularTitle:散在表达CD117、DOG1的消化道平滑肌瘤17例临床与分子病理特征
- Author:
Wenjing GAO
1
;
Zhihan ZHANG
;
Haimin XU
;
Yijin GU
Author Information
1. 安徽省马鞍山市人民医院病理科,马鞍山 243000
- Publication Type:Journal Article
- Keywords:
gastrointestinal neoplasms;
leiomyoma;
interstitial cells of Cajal;
KIT gene;
PDGFRA gene
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(10):1318-1323
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To investigate the clinical features of gastrointestinal leiomyomas(GLs)with scattered ex-pression of CD117 and DOG1,and to evaluate their biological behavior as well as their different diagnositic value from gastrointestinal stromal tumors(GISTs).Methods Clinical data from 17 cases of surgically resected GLs were col-lected.Immunohistochemistry using the EnVision method was performed to detect SMA,desmin,h-caldesmon,DOG1,CD117,and CD34.First-generation sequencing was performed to analyze exons 9-20 of the KIT gene and ex-ons 12 and 18 of the PDGFRA gene.Results Tumors occured in the stomach(8 cases)and esophagus(9 cases).Clinical manifestations included dull upper abdominal pain,dysphagia,chest pain,and fever.During a follow-up peri-od of 58-88 months,no recurrence was observed,and all patients had a favorable prognosis.Histologically,tumor cells were spindle-shaped and arranged in bundles or a woven pattern.Interstitial cells of Cajal appeared spindle-shaped or stellate with indistinct borders and dispersed chromatin.Tumor cells showed diffuse positivity for SMA,desmin,and h-caldesmon(100％).Interstitial cells of Cajal exhibited focal positive for CD117 and DOG1,with an o-verall positive rate of 9％for each marker.No pathogenic mutations of the KIT or PDGFRA genes were detected by first-generation sequencing.Conclusion Although some GLs contained interstitial cells of Cajal that showed focal pos-itivity for CD117 and DOG1,sequencing and long-term follow-up confirmed that their biological behavior differed from that of GISTs,with no malignant potential.Surgical resection remained the mainstay of treatment,and the prognosis was favorable.
