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Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome
Shuaixia Yu1,2, Yang Wang3, Baijie Tang1,2
1Department of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, No. 32, West Second Section, First Ring Road, Chengdu, 610072, China.
Background:
Microcystic adnexal carcinoma (MAC) is a skin cancer with challenges in diagnosis and management. This study was aimed to detect molecular alterations of MAC and guide its pathologic diagnosis and treatment.
Methods:
We performed transcriptome analysis on 5 MAC and 5 normal skin tissues, identified the differentially expressed genes, and verified them by immunohistochemistry.
Results:
Three hundred four differentially expressed genes (DEGs) in MAC were identified by next-generation transcriptome sequencing, among which 225 genes were upregulated and 79 genes were downregulated. Four genes of the calcium signaling pathway, including calcium voltage-gated channel subunit alpha 1 S (CACNA1S), ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 (ATP2A1), ryanodine receptor 1 (RYR1), and myosin light chain kinase 3 (MYLK3), were upregulated and then been verified by immunohistochemistry. The expression of CACNA1S, ATP2A1, RYR1, and MYLK3 was upregulated in MAC compared with normal sweat glands and syringoma tumor cells and was generally negative in trichoepithelioma and infundibulocystic type basal cell carcinoma.
Conclusions:
The four genes of the calcium signaling pathway were upregulated in MAC at both RNA and protein levels. CACNA1S, ATP2A1, RYR1, and MYLK3 may be new diagnostic molecular markers and therapeutic targets for MAC.
Insights
Microcystic adnexal carcinoma (MAC) involves challenging diagnosis. This study identified four calcium signaling pathway genes (CACNA1S, ATP2A1, RYR1, MYLK3) upregulated in MAC, suggesting them as potential diagnostic markers and therapeutic targets.
Area of Science:
- Oncology
- Dermatology
- Molecular Biology
Background:
- Microcystic adnexal carcinoma (MAC) presents diagnostic and management difficulties.
- Identifying molecular alterations is crucial for improving MAC diagnosis and treatment.
Purpose of the Study:
- To detect molecular alterations in MAC.
- To identify potential diagnostic markers and therapeutic targets for MAC.
Main Methods:
- Transcriptome analysis was performed on MAC and normal skin tissues.
- Differentially expressed genes (DEGs) were identified using next-generation sequencing.
- Gene expression was verified by immunohistochemistry.
Main Results:
- 304 DEGs were identified in MAC, with 225 upregulated and 79 downregulated.
- Four calcium signaling pathway genes (CACNA1S, ATP2A1, RYR1, MYLK3) were found to be upregulated in MAC.
- These four genes showed increased expression at both RNA and protein levels in MAC compared to normal tissues and other skin tumors.
Conclusions:
- The four calcium signaling pathway genes (CACNA1S, ATP2A1, RYR1, MYLK3) are upregulated in MAC.
- These genes represent potential novel molecular diagnostic markers for MAC.
- CACNA1S, ATP2A1, RYR1, and MYLK3 may serve as future therapeutic targets for microcystic adnexal carcinoma.
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