Abstract
Background : There are reports about the coexistence of two kinds of tumors in the same patient,which is believed that this phenomenon is caused by the dedifferentiation between the two tumors.In this paper, we report an human papillomavirus (HPV) negative cervical adenocarcinoma in a patient composed of two adenocarcinoma components,which is first reported.Histologically, both minimal deviation adenocarcinoma (MDA) and poorly differentiated gastric type adenocarcinoma (GTA) components, as well as their transitional area, were observed.Methods : This case of cervical cancer was screened by gene sequencing. For detection of specific somatic mutations in MDA and GTA, we filtered out mutations in malignant cervical cancer blood sample and 7 common cervical carcinoma. Then the genes were screened and identified based on the enrichment analysis of GO and KEGG and related literature reports. Results : We found 13 specific somatic gene mutations in total. Among these genes, only Mucin gene was transformed from gene level to protein level, and was positive in both MDA and GTA components of the patient by immunohistochemistry.Both components had genes mutation of MUC4 and MUC17,the component in MDA had gene mutation of MUC3A,and we found that MUC3A and MUC17 were on the same chromosome. Moreover,MUC3A and MUC4 genes were found to be fused in FusionGDB database. Conclusion : According to the reports of MUC3A,MUC4 and MUC17 genes mutation in cervical adenocarcinoma and gene fusions in tumorigenesis, we speculate that the occurrence of the transformation of pathological type from MDA to GTA in this case of cervical cancer is related to the mechanism of MUC3A and MUC4 gene fusion.We would advice, for HPV negative or atypical cervical lesions, immunohistochemistry of MUCIN genes staining and gene sequencing should be considered, which may find unusual cancer types and change the prognosis of patients.