<i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland
Sclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting its neoplastic origin. We report a case of a 73-y...
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MDPI AG
2023-01-01
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| Series: | Current Issues in Molecular Biology |
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| Online Access: | https://www.mdpi.com/1467-3045/45/2/61 |
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| author | Hisham F. Bahmad Gina Elhammady Jennifer M. Gass Juan C. Paramo Robert Poppiti John Alexis |
| author_facet | Hisham F. Bahmad Gina Elhammady Jennifer M. Gass Juan C. Paramo Robert Poppiti John Alexis |
| author_sort | Hisham F. Bahmad |
| collection | DOAJ |
| description | Sclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting its neoplastic origin. We report a case of a 73-year-old woman who presented with left neck swelling and pain. A 3 cm hypoechoic, heterogeneous, solid mass was identified on neck ultrasonography within the left parotid gland. Fine needle aspiration revealed benign acinar cells and lymphocytes. Left partial superficial parotidectomy was performed and a diagnosis of SPA was made. Targeted next-generation sequencing (NGS) revealed three clinically significant alterations in the <i>PIK3R1</i>, <i>HRAS</i>, and <i>AR</i> genes. Alterations in the <i>PIK3R1</i> gene have been previously reported in cases of SPA; however, this study is the first to report two novel clinically significant genomic alterations in the <i>HRAS</i> and <i>AR</i> genes. AR protein expression by immunohistochemistry was strongly and diffusely positive in the neoplastic epithelial cells compared to the adjacent normal salivary gland tissue, which was dead negative for AR. This molecular profile will enhance our understanding of the molecular pathways underlying the development of this tumor. Although this entity was initially thought to be a reactive process, evidence from our case and similar cases strongly support the notion that it is neoplastic due to the presence of specific genetic alterations linked to it. |
| first_indexed | 2024-03-11T08:59:08Z |
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| issn | 1467-3037 1467-3045 |
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| last_indexed | 2024-03-11T08:59:08Z |
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| series | Current Issues in Molecular Biology |
| spelling | doaj.art-95e1b26a8efe45de948b619c5de4dc4d2023-11-16T19:50:33ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452023-01-0145295496210.3390/cimb45020061<i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid GlandHisham F. Bahmad0Gina Elhammady1Jennifer M. Gass2Juan C. Paramo3Robert Poppiti4John Alexis5The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USAFlorida Cancer Specialists & Research Institute, Fort Myers, FL 33916, USAFlorida Cancer Specialists & Research Institute, Fort Myers, FL 33916, USADepartment of General Surgery, Mount Sinai Medical Center, Miami Beach, FL 33140, USAThe Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USAThe Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USASclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting its neoplastic origin. We report a case of a 73-year-old woman who presented with left neck swelling and pain. A 3 cm hypoechoic, heterogeneous, solid mass was identified on neck ultrasonography within the left parotid gland. Fine needle aspiration revealed benign acinar cells and lymphocytes. Left partial superficial parotidectomy was performed and a diagnosis of SPA was made. Targeted next-generation sequencing (NGS) revealed three clinically significant alterations in the <i>PIK3R1</i>, <i>HRAS</i>, and <i>AR</i> genes. Alterations in the <i>PIK3R1</i> gene have been previously reported in cases of SPA; however, this study is the first to report two novel clinically significant genomic alterations in the <i>HRAS</i> and <i>AR</i> genes. AR protein expression by immunohistochemistry was strongly and diffusely positive in the neoplastic epithelial cells compared to the adjacent normal salivary gland tissue, which was dead negative for AR. This molecular profile will enhance our understanding of the molecular pathways underlying the development of this tumor. Although this entity was initially thought to be a reactive process, evidence from our case and similar cases strongly support the notion that it is neoplastic due to the presence of specific genetic alterations linked to it.https://www.mdpi.com/1467-3045/45/2/61sclerosing polycystic adenomaparotid glandnext generation sequencing<i>HRAS</i><i>AR</i><i>PIK3R1</i> |
| spellingShingle | Hisham F. Bahmad Gina Elhammady Jennifer M. Gass Juan C. Paramo Robert Poppiti John Alexis <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland Current Issues in Molecular Biology sclerosing polycystic adenoma parotid gland next generation sequencing <i>HRAS</i> <i>AR</i> <i>PIK3R1</i> |
| title | <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland |
| title_full | <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland |
| title_fullStr | <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland |
| title_full_unstemmed | <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland |
| title_short | <i>PIK3R1</i>, <i>HRAS</i> and <i>AR</i> Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland |
| title_sort | i pik3r1 i i hras i and i ar i gene alterations associated with sclerosing polycystic adenoma of the parotid gland |
| topic | sclerosing polycystic adenoma parotid gland next generation sequencing <i>HRAS</i> <i>AR</i> <i>PIK3R1</i> |
| url | https://www.mdpi.com/1467-3045/45/2/61 |
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