Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors
Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of w...
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MDPI AG
2022-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/14/3/476 |
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| author | Nicolas Macagno Pierre Sohier Thibault Kervarrec Daniel Pissaloux Marie-Laure Jullie Bernard Cribier Maxime Battistella |
| author_facet | Nicolas Macagno Pierre Sohier Thibault Kervarrec Daniel Pissaloux Marie-Laure Jullie Bernard Cribier Maxime Battistella |
| author_sort | Nicolas Macagno |
| collection | DOAJ |
| description | Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (<i>NFIB</i>, <i>MYB,</i> and <i>MYBL1</i> fusion), cutaneous mixed tumor (<i>PLAG1</i> fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through <i>CYLD</i> inactivation or <i>ALKP1</i> hotspot mutation), hidradenoma and hidradenocarcinoma (<i>MAML2</i> fusion), myoepithelioma (<i>EWSR1</i> and <i>FUS</i> fusion), poroma and porocarcinoma (<i>YAP1</i>, <i>MAML2,</i> and <i>NUTM1</i> fusion), secretory carcinoma (<i>ETV6</i>, <i>NTRK3</i> fusion), tubular adenoma and syringo-cystadenoma papilliferum (<i>HRAS</i> and <i>BRAF</i> activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments. |
| first_indexed | 2024-03-10T00:09:13Z |
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| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T00:09:13Z |
| publishDate | 2022-01-01 |
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| record_format | Article |
| series | Cancers |
| spelling | doaj.art-7a02f5f9195c4168810407e81914e0222023-11-23T16:03:25ZengMDPI AGCancers2072-66942022-01-0114347610.3390/cancers14030476Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland TumorsNicolas Macagno0Pierre Sohier1Thibault Kervarrec2Daniel Pissaloux3Marie-Laure Jullie4Bernard Cribier5Maxime Battistella6French Network of Rare Skin Cancers, CARADERM, FranceFrench Network of Rare Skin Cancers, CARADERM, FranceFrench Network of Rare Skin Cancers, CARADERM, FranceDepartment of Biopathology, UNICANCER, Léon Bérard Center, 69008 Lyon, FranceFrench Network of Rare Skin Cancers, CARADERM, FranceFrench Network of Rare Skin Cancers, CARADERM, FranceFrench Network of Rare Skin Cancers, CARADERM, FranceCutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (<i>NFIB</i>, <i>MYB,</i> and <i>MYBL1</i> fusion), cutaneous mixed tumor (<i>PLAG1</i> fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through <i>CYLD</i> inactivation or <i>ALKP1</i> hotspot mutation), hidradenoma and hidradenocarcinoma (<i>MAML2</i> fusion), myoepithelioma (<i>EWSR1</i> and <i>FUS</i> fusion), poroma and porocarcinoma (<i>YAP1</i>, <i>MAML2,</i> and <i>NUTM1</i> fusion), secretory carcinoma (<i>ETV6</i>, <i>NTRK3</i> fusion), tubular adenoma and syringo-cystadenoma papilliferum (<i>HRAS</i> and <i>BRAF</i> activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.https://www.mdpi.com/2072-6694/14/3/476adenoid cystic carcinoma<i>NFIB</i><i>MYB</i><i>MYBL1</i>mixed tumorchondroid syringoma |
| spellingShingle | Nicolas Macagno Pierre Sohier Thibault Kervarrec Daniel Pissaloux Marie-Laure Jullie Bernard Cribier Maxime Battistella Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors Cancers adenoid cystic carcinoma <i>NFIB</i> <i>MYB</i> <i>MYBL1</i> mixed tumor chondroid syringoma |
| title | Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors |
| title_full | Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors |
| title_fullStr | Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors |
| title_full_unstemmed | Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors |
| title_short | Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors |
| title_sort | recent advances on immunohistochemistry and molecular biology for the diagnosis of adnexal sweat gland tumors |
| topic | adenoid cystic carcinoma <i>NFIB</i> <i>MYB</i> <i>MYBL1</i> mixed tumor chondroid syringoma |
| url | https://www.mdpi.com/2072-6694/14/3/476 |
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