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Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing
Vulvar adenocarcinomas are rare tumors, representing approximately 5% of gynecological malignancies. Mammary-like adenocarcinomas of the vulva (MLAV) are extremely rare, and their molecular features are poorly described in the scientific literature. We report a case of an 88-year-old woman affected...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Pacini Editore srl
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462998/ https://www.ncbi.nlm.nih.gov/pubmed/37114627 http://dx.doi.org/10.32074/1591-951X-848 |
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author | Lobrano, Renato Manca, Alessandra Sini, Maria Cristina Palmieri, Giuseppe Petrillo, Marco Cossu, Antonio Paliogiannis, Panagiotis |
author_facet | Lobrano, Renato Manca, Alessandra Sini, Maria Cristina Palmieri, Giuseppe Petrillo, Marco Cossu, Antonio Paliogiannis, Panagiotis |
author_sort | Lobrano, Renato |
collection | PubMed |
description | Vulvar adenocarcinomas are rare tumors, representing approximately 5% of gynecological malignancies. Mammary-like adenocarcinomas of the vulva (MLAV) are extremely rare, and their molecular features are poorly described in the scientific literature. We report a case of an 88-year-old woman affected by MLAV with comedo-like features, with a detailed description of the pathological, immunohistochemical and molecular features. Immunohistochemistry (IHC) showed strong staining for cytokeratin 7, GATA3, androgen receptor, GCFPD15, and weak staining for mammaglobin; no staining for Her-2 was found. The proliferation index (Ki-67) was 15%. Molecular testing detected a pathogenic mutation of the AKT1 gene, a likely pathogenic frameshift insertion of the JAK1 gene, and two likely pathogenic frameshift deletions of the KMT2C gene; in addition, two variants of unknown significance (VUS) involving the ARID1A and OR2T4 genes were detected. Finally, two CNVs of the BRCA1 gene were identified. |
format | Online Article Text |
id | pubmed-10462998 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Pacini Editore srl |
record_format | MEDLINE/PubMed |
spelling | pubmed-104629982023-08-30 Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing Lobrano, Renato Manca, Alessandra Sini, Maria Cristina Palmieri, Giuseppe Petrillo, Marco Cossu, Antonio Paliogiannis, Panagiotis Pathologica Case Report Vulvar adenocarcinomas are rare tumors, representing approximately 5% of gynecological malignancies. Mammary-like adenocarcinomas of the vulva (MLAV) are extremely rare, and their molecular features are poorly described in the scientific literature. We report a case of an 88-year-old woman affected by MLAV with comedo-like features, with a detailed description of the pathological, immunohistochemical and molecular features. Immunohistochemistry (IHC) showed strong staining for cytokeratin 7, GATA3, androgen receptor, GCFPD15, and weak staining for mammaglobin; no staining for Her-2 was found. The proliferation index (Ki-67) was 15%. Molecular testing detected a pathogenic mutation of the AKT1 gene, a likely pathogenic frameshift insertion of the JAK1 gene, and two likely pathogenic frameshift deletions of the KMT2C gene; in addition, two variants of unknown significance (VUS) involving the ARID1A and OR2T4 genes were detected. Finally, two CNVs of the BRCA1 gene were identified. Pacini Editore srl 2023-04-30 /pmc/articles/PMC10462998/ /pubmed/37114627 http://dx.doi.org/10.32074/1591-951X-848 Text en © 2023 Copyright by Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access journal distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license: the work can be used by mentioning the author and the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en |
spellingShingle | Case Report Lobrano, Renato Manca, Alessandra Sini, Maria Cristina Palmieri, Giuseppe Petrillo, Marco Cossu, Antonio Paliogiannis, Panagiotis Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title | Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title_full | Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title_fullStr | Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title_full_unstemmed | Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title_short | Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
title_sort | mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462998/ https://www.ncbi.nlm.nih.gov/pubmed/37114627 http://dx.doi.org/10.32074/1591-951X-848 |
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