Available online 2 December 2022, 154242

Author links open overlay panelAbstract

Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy but rarely occurs in the esophagus. It is easily confused with adenosquamous carcinoma and squamous cell carcinoma (SCC) with mucus-secreting components. MAML2 gene rearrangement detected by fluorescence in situ hybridization (FISH), RT-PCR or next-generation sequencing (NGS) can aid in the diagnosis. We present a case of esophageal MEC with MAML2 gene rearrangement detected by FISH. To the best of our knowledge, this is the first report of an esophageal MEC with MAML2 gene rearrangement. We also reveal that esophageal MEC patients were reported to have a higher risk of recurrence and death than SCC patients in previous literature. However, all the cases were diagnosed using previous diagnostic criteria and not confirmed by MAML2 gene rearrangement detection, most of them might not be true MECs.

Introduction

Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy but rarely occurs in the esophagus. Primary esophageal MEC is a rare malignancy accounting for 0.05% to 2.2% of all primary esophageal cancers according to previous reports [1], [2], [3]. It is believed to arise from the submucosal glands or ducts [4] or from the stratified squamous epithelium [5] of the esophagus. It is more commonly reported in the middle esophagus of elderly men. Its symptoms, imaging findings and gastroscopic findings are similar to those of esophageal squamous cell carcinoma (SCC) [6]. The diagnosis depends on histopathological features. Similar to salivary gland MECs, esophageal MECs are composed of a mixture of malignant epidermoid, intermediate, and mucous cells [7], [8], [9]. MEC is easily confused with adenosquamous carcinoma and SCC with focal mucus-secreting components. MEC of salivary gland frequently harbors MAML2 gene rearrangement [10], [11], [12], [13], which may help in its diagnosis. To the best of our knowledge, a primary esophageal MEC with MAML2 gene rearrangement has not been described. We present a case report and literature review to increase awareness about esophageal MEC and assist with differential diagnosis.

Section snippetsMaterials and methods

Here we describe a case of esophageal MEC in our hospital with classic MEC morphological features and MAML2 gene rearrangement detected by fluorescence in situ hybridization (FISH). To increase awareness of this malignancy in rare positions, we used a PubMed search of the English literature using the keywords “Mucoepidermoid carcinoma”, “Esophagus”, and “MAML2” to identify other reported cases. Our literature review included cross-referencing all previously published articles and their

Case report

A 52-year-old male presented to the local hospital with the chief complaint of dysphagia accompanied by pain for more than 4 months without an obvious cause and was diagnosed with poorly differentiated adenocarcinoma at the first esophagoscopic biopsy by local hospital. For further treatment, the patient turned to our hospital. Endoscopy showed a protruding lesion at 6-9 points in the esophagus 22-24 cm away from the incisor (Fig. 1A). No distant organ metastasis was observed. The patient then

Discussion

Mucoepidermoid carcinoma (MEC) commonly occurrs in the salivary gland, lacrimal and tracheobronchial glands but rarely in the esophagus, accounting for 0.05% to 2.2% of all primary esophageal cancers. It is believed to arise from the submucosal glands or ducts [4] or from the stratified squamous epithelium [5] of the esophagus. Our case also showed some similar clinical features to esophageal SCC, such as the age, gender, location of lesion, dysphagia and gastroscopic findings. However, there

Conclusion

MEC rarely occurs in the esophagus. It has the same histologic morphology as salivary gland MEC. To the best of our knowledge, this is the first report of an esophageal MEC with MAML2 gene rearrangement. MAML2 gene rearrangement can be used as a diagnostic indicator of esophageal MEC.

Ethics approval and consent to participate

The study protocol was approved by the institutional review boards of the National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College. All procedures were conducted in accordance with the ethical standards of the Helsinki Declaration of 1975. Informed consent was obtained from the study participant at the time of the first outpatient appointment. Written consent was obtained from the patient for the

Consent for publication

Written informed consent for the publication of this article and any accompanying images was obtained from the family members of the patient.

Declaration of Competing Interest

The authors declare that they have no conflict of interest regarding this article. All the authors listed have approved the present submitted version.

Acknowledgements

This study was supported by CAMS Initiative for Innovative Medicine (CIFMS) (No. 2021-I2M-1-067).

Competing interests

The authors declare that they have no competing interests.

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