Histologic and genomic characterization of a primary mucinous carcinoma of the skin
Aims: Primary skin mucinous carcinoma is a rare sweat gland neoplasm with a high local recurrence rate after conventional excision but a low distant-metastasis rate. The genetic underpinning of skin mucinous carcinoma is presently unknown. Here, we sought to define whether the repertoire of somatic...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | EJC Skin Cancer |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772611823000113 |
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| author | Anastasios D. Papanastasiou Maria R. De Filippo Chaido Sirinian Pier Selenica Maria Repanti Jorge S. Reis-Filho Britta Weigelt |
| author_facet | Anastasios D. Papanastasiou Maria R. De Filippo Chaido Sirinian Pier Selenica Maria Repanti Jorge S. Reis-Filho Britta Weigelt |
| author_sort | Anastasios D. Papanastasiou |
| collection | DOAJ |
| description | Aims: Primary skin mucinous carcinoma is a rare sweat gland neoplasm with a high local recurrence rate after conventional excision but a low distant-metastasis rate. The genetic underpinning of skin mucinous carcinoma is presently unknown. Here, we sought to define whether the repertoire of somatic mutations of a primary mucinous carcinoma of the skin would be similar to that of mucinous breast carcinomas, given the histologic similarities between these tumor types. Methods and results: The tumor was situated in the dermis and partially involved the subcutaneous fat. Tumor cells were suspended in periodic acid–Schiff diastaseresistant- positive mucin lakes and expressed cytokeratin 7, synaptophysin and estrogen receptor. DNA samples extracted from microdissected tumor and matched normal tissue were subjected to massively parallel sequencing targeting 410 cancer-related genes. The skin mucinous tumor was found to have a low tumor mutation burden, but to harbor a clonal GATA3 frameshift mutation (p.T418Hfs*89) and amplification of FOXA1, genes not uncommonly altered in breast mucinous carcinomas. Conclusions: In this primary skin mucinous carcinoma, GATA3 and FOXA1 driver genetic events were identified, consistent with a possible developmental relationship between skin and breast mucinous neoplasms. |
| format | Article |
| id | doaj-art-2f9c821286834d10a19e672f5c365ed2 |
| institution | Kabale University |
| issn | 2772-6118 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EJC Skin Cancer |
| spelling | doaj-art-2f9c821286834d10a19e672f5c365ed22024-11-24T04:14:33ZengElsevierEJC Skin Cancer2772-61182023-01-011100011Histologic and genomic characterization of a primary mucinous carcinoma of the skinAnastasios D. Papanastasiou0Maria R. De Filippo1Chaido Sirinian2Pier Selenica3Maria Repanti4Jorge S. Reis-Filho5Britta Weigelt6Department of Biomedical Sciences, University of West Attica, Athens, Greece; Corresponding author.Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USADepartment of Biomedical Sciences, University of West Attica, Athens, GreeceDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USADepartment of Pathology, Patras General Hospital, Patras, GreeceDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USADepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USAAims: Primary skin mucinous carcinoma is a rare sweat gland neoplasm with a high local recurrence rate after conventional excision but a low distant-metastasis rate. The genetic underpinning of skin mucinous carcinoma is presently unknown. Here, we sought to define whether the repertoire of somatic mutations of a primary mucinous carcinoma of the skin would be similar to that of mucinous breast carcinomas, given the histologic similarities between these tumor types. Methods and results: The tumor was situated in the dermis and partially involved the subcutaneous fat. Tumor cells were suspended in periodic acid–Schiff diastaseresistant- positive mucin lakes and expressed cytokeratin 7, synaptophysin and estrogen receptor. DNA samples extracted from microdissected tumor and matched normal tissue were subjected to massively parallel sequencing targeting 410 cancer-related genes. The skin mucinous tumor was found to have a low tumor mutation burden, but to harbor a clonal GATA3 frameshift mutation (p.T418Hfs*89) and amplification of FOXA1, genes not uncommonly altered in breast mucinous carcinomas. Conclusions: In this primary skin mucinous carcinoma, GATA3 and FOXA1 driver genetic events were identified, consistent with a possible developmental relationship between skin and breast mucinous neoplasms.http://www.sciencedirect.com/science/article/pii/S2772611823000113Primary skin mucinous carcinomaTargeted sequencingImmunohistochemistry |
| spellingShingle | Anastasios D. Papanastasiou Maria R. De Filippo Chaido Sirinian Pier Selenica Maria Repanti Jorge S. Reis-Filho Britta Weigelt Histologic and genomic characterization of a primary mucinous carcinoma of the skin EJC Skin Cancer Primary skin mucinous carcinoma Targeted sequencing Immunohistochemistry |
| title | Histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| title_full | Histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| title_fullStr | Histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| title_full_unstemmed | Histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| title_short | Histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| title_sort | histologic and genomic characterization of a primary mucinous carcinoma of the skin |
| topic | Primary skin mucinous carcinoma Targeted sequencing Immunohistochemistry |
| url | http://www.sciencedirect.com/science/article/pii/S2772611823000113 |
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