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Intestinal adenosquamous carcinoma with a synchronous skin metastasis: a immunohistochemical and molecular analysis

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Abstract

Introduction

Intestinal adenosquamous carcinoma (ASC) is a rare colorectal neoplasm frequently occurring at onset as a locally advanced disease with distant metastases. The liver is the most common site of metastasis, followed by the peritoneum and the lung. Cutaneous metastases from usual colorectal adenocarcinoma occur in about 3% of cases, both at the time of diagnosis in advanced disease and during the follow-up. To the best of our knowledge, skin metastasis from ASC has never been described, and no biological landscape of ASC has ever been investigated.

Methods

We report a case of synchronous intestinal ASC and cutaneous single facial metastasis in a 70-year-old man with morphological, immunohistochemical, and molecular analysis of primary and metastatic lesions.

Results

Primary and metastatic ASC showed the same morphological and immunohistochemical features. Target sequencing analysis revealed, both in primary tumor and metastasis, a pathogenic KRAS gene missense mutation c.38G > A p.(Gly13Asp) and a likely pathogenic CTNNB1 gene missense mutation c.94G > A p.(Asp32Asn). A nuclear localization of β-catenin protein in adenocarcinomatous component of primary and metastatic lesions was observed on immunohistochemistry.

Conclusion

We describe a case of single synchronous facial cutaneous metastasis from intestinal ASC showing KRAS and CTNN1B mutations both on primary and metastatic lesions.

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by [Paola Parente], [Paola Parrella], [Fabiola Fiordelisi], [Tiziana Pia Latiano], [Maria Teresa Pellico], and [Evaristo Maiello]. The first draft of the manuscript was written by [Paola Parente, Claudia Covelli, Paola Parrella, Paolo Graziano], and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Paola Parente.

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Parente, P., Covelli, C., Parrella, P. et al. Intestinal adenosquamous carcinoma with a synchronous skin metastasis: a immunohistochemical and molecular analysis. Int J Colorectal Dis 35, 337–341 (2020). https://doi.org/10.1007/s00384-019-03464-2

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