# Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms

**Authors:** Silvana Wilken, Tharusan Thevathasan, Can Kamali, Adrien Guillot, Jana Ihlow, Uli Fehrenbach, Magdalena Danyel, Johann Pratschke, Frank Tacke, Felix Krenzien

PMC · DOI: 10.1007/s12328-023-01899-3 · Clinical Journal of Gastroenterology · 2023-12-22

## TL;DR

This paper reports a rare case of a patient with multiple benign liver tumors and other cancers, along with a new mutation and unusual cell features.

## Contribution

First reported case of a syndrome with three benign liver tumors and a novel mutation, plus new histopathological findings.

## Key findings

- First clinical case of a syndrome with three benign liver tumors and a novel mutation.
- Liver adenoma cells showed expression of cytokeratin 7, a new histopathological observation.
- Presence of extrahepatic neoplasms suggests a broader underlying genetic syndrome.

## Abstract

Simultaneous occurrence of benign hepatic lesions of different types is a sporadic phenomenon. To the best of our knowledge, we report the first clinical case of a syndrome with simultaneous manifestations of three different entities of benign liver tumors (hepatocellular adenoma, focal nodular hyperplasia and hemangioma) with a novel mutation detected in the liver adenoma and in the presence of a number of further extrahepatic organ neoplasms. Furthermore, we describe for the first time the presence of liver epithelial cells of hepatocytic phenotype expressing cytokeratin 7 (CK7) at the border of the adenoma. These findings may be important for explaining pathogenesis of benign as well as malignant tumors based on genetic and histopathological features.

## Linked entities

- **Diseases:** hepatocellular adenoma (MONDO:0018902), focal nodular hyperplasia (MONDO:0100549), hemangioma (MONDO:0006500)

## Full-text entities

- **Genes:** KRT7 (keratin 7) [NCBI Gene 3855] {aka CK7, K2C7, K7, SCL}
- **Diseases:** extrahepatic neoplasms (MESH:D009369), focal nodular hyperplasia (MESH:D020518), benign hepatic lesions (MESH:D056486), hemangioma (MESH:D006391), hepatocellular adenoma (MESH:D018248), benign liver tumors (MESH:D017093), adenoma (MESH:D000236)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10960739/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC10960739/full.md

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Source: https://tomesphere.com/paper/PMC10960739