Gene expression profiling in aggressive digital papillary adenocarcinoma sheds light on the architecture of a rare sweat gland carcinoma

Abstract

Background

Sweat gland carcinomas are rare cutaneous adnexal malignancies. Aggressive digital papillary adenocarcinoma (ADPA) represents a very rare sub‐entity, thought to arise almost exclusively from sweat glands of the fingers and toes. The aetiology of sweat gland carcinomas and ADPA is largely unknown. ADPAs are most likely driven by somatic mutations. However, somatic mutation patterns are largely unexplored, creating barriers to the development of effective therapeutic approaches to the treatment of ADPA.

Objective

To investigate the transcriptome profile of ADPA using a sample of eight formalin‐fixed, paraffin embedded (FFPE) tissue samples of ADPA and healthy control tissue.

Methods

Transcriptome profiling was performed using the Affymetrix PrimeView Human Gene Expression Microarray and findings were validated via reverse‐transcription of RNA and real‐time qPCR.

Results

Transcriptome analyses showed increased tumour expression of 2,266 genes, with significant involvement of cell cycle, ribosomal and crucial cancer pathways. Our results furthermore point to tumour‐overexpression of FGFR2 (p = 0.001).

Conclusions

Our results indicate the involvement of crucial oncogenic driver pathways, highlighting cell cycle and ribosomal pathways in the aetiology of ADPA. Suggested tumour‐overexpression of FGFR2 raises the hope that targeting the FGF/FGFR axis might be a promising treatment for ADPA and probably for the overall group of sweat gland carcinomas.

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