Targeted-Gene Sequencing and Bioinformatics Analysis of Patients with Pancreatic Mucoepidermoid Carcinoma: A Case Report and Literature Review

Abstract

Background Primary pancreatic mucoepidermoid carcinoma (MEC) is an extremely rare malignant tumor with unclear etiology and pathogenesis. There are only eleven reported cases in English papers published from 1959 to 2020. MEC generally occurs in the salivary gland, but cases in the pancreas have also been reported. Although being considered as a low-grade indolent carcinoma, pancreatic MEC always invades the surrounding lymph node and metastasizes. The prognosis of pancreatic MEC is unsatisfactory. To date, the genetic alterations, mechanistic relationships among mutated genes and signaling pathways of pancreatic MEC are unclear. Patient and Methods This paper presents a case of rare primary pancreatic MEC in a 56-year-old male patient with liver metastasis. Radical surgery of distal pancreatectomy and radiofrequency ablation (RFA) of two liver metastatic lesions is conducted. Targeted-gene sequencing and bioinformatics analysis tools, including STRING, DAVID, cBioPortal, DGidb and Human Protein Atlas database (HPA), are used to clarify the biological functions and features of mutated genes in pancreatic MEC. Results Eight gene mutations (TP53, KRAS, ATR, FLI1, FLT4, MAGI2, RBM10, and TNFAIP3) were observed, and a tumor mutation burden (TMB) of 5.6 muts/Mb was calculated in the pancreatic MEC using targeted-gene sequencing. The patient subsequently underwent adjuvant chemotherapy and died three months after surgery. Gene–gene interaction network was constructed, which showed the significant interactions among eight mutated genes. In terms of the functions and pathways of eight gene mutations based on GO and KEGG, 20 tumor-related results are presented in this paper, Furthermore, the biological functions and features of pancreatic MEC are further compared with pancreatic ductal adenocarcinoma. Conclusion Pancreatic MEC requires early and effective treatment, and lymph node metastases and multiple organ metastases were unfavorable prognostic factors. Pancreatic MEC can be compared with other pancreatic cancers that have characteristic clinical phenotype, molecular alterations, functional information and enrichment pathway.

A case report of pancreatic mucoepidermoid carcinoma responded to gemcitabine and paclitaxel

“…However, it is exceedingly rare in the pancreas. Since Franz first reported pancreatic MEC in 1959, only 13 cases have been reported in English literature [ 3 ] ( Table 1 ). Pancreatic MEC is more commonly found in the body and tail of the pancreas, and the liver and lymph nodes are the sites where metastasis is more likely to occur [ 3 ].…”

“…Mucoepidermoid Carcinoma (MEC) is a common primary malignant tumor of the salivary glands [ 1 ], first described by Stewart et al in 1945 [ 2 ]. Pancreatic mucinous epidermoid carcinoma is even rarer, to our knowledge, with only 13 cases reported in English literature [ 3 ]. Diagnosis of MEC still relies on pathological examination due to the absence of typical imaging characteristics and tumor markers.…”

Primary Hepatoid Adenocarcinoma of the Lung: A Systematic Literature Review

“…Literature review suggests that many gene mutations are implicated in the pathogenesis of neoplasms. 66 Li et al 24 found that the FAT1 gene is mutated in HAL tissues, with the mutation forms at c.3940T (Thymine)>A (Adenine). Because of the similarities of the tissue characteristics and pathologies of HLA, HCC, and lung adenocarcinoma (LUAD), the potential biological mechanisms of liver hepatocellular carcinoma (LIHC) and LUAD were discussed and compared together in this study.…”