Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature

Bartholin gland adenocarcinoma (BGA) is extremely rare and is characterized by high rates of lymph-node recurrence and distant metastases. No effective palliative treatments are available for metastatic BGA; therefore, advanced BGA remains a challenge for gynecologic oncologists. Considering the rar...

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Autores principales:	Antonio Macciò, Clelia Donisi, Elisabetta Sanna, Giacomo Chiappe, Sonia Nemolato, Luca Melis, Sara Oppi, Brunella Mola, Clelia Madeddu
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	vulvar cancer Bartholin gland adenocarcinoma minimally invasive surgery whole genomic sequencing immunotherapy mTOR inhibitors Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/693b528e370d4988baa96f21880e6410
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spelling	oai:doaj.org-article:693b528e370d4988baa96f21880e64102021-11-25T17:21:29ZNext-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature10.3390/diagnostics111120852075-4418https://doaj.org/article/693b528e370d4988baa96f21880e64102021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2085https://doaj.org/toc/2075-4418Bartholin gland adenocarcinoma (BGA) is extremely rare and is characterized by high rates of lymph-node recurrence and distant metastases. No effective palliative treatments are available for metastatic BGA; therefore, advanced BGA remains a challenge for gynecologic oncologists. Considering the rarity of this disease and the lack of a standardized approach, the present study aims to discuss the available literature on current therapies for BGA and to describe an emblematic case treated with a novel tailored approach. A postmenopausal woman with advanced BGA was referred to our department for an adequate evaluation, staging and treatment. Notably, we used PET/CT as a fundamental imaging technique for staging and follow-up. The patient underwent primary surgery followed by standard chemotherapy and pelvic radiotherapy. Three months later, she relapsed, with the appearance of multiple metastatic sites. Considering the evident chemoresistance to standard chemotherapy and the absence of valid therapeutic alternatives for this rare cancer, she was treated with a combination of repeated minimally invasive surgical procedures for all the resectable metastatic lesions and innovative approaches comprising, firstly, chemoimmunotherapy with Nivolumab combined with metronomic vinorelbine, which resulted in a clinical response for approximately 7 months. Upon disease progression, we used a targeted systemic approach based on the whole genomic profile of the primary tumor, which showed <i>PTEN</i> loss, which is predictive of a benefit from an mTOR inhibitor, and a <i>CCND1</i> amplification, which predicts sensitivity to CDK4/6 inhibitors. Therefore, she received Everolimus, resulting in a significant metabolic response that lasted 12 months. Thereafter, upon further progression of the disease, the patient started Palbociclib treatment, which is currently ongoing, with evidence of a metabolic response. The patient has survived for 54 months from diagnosis, with a good performance status. In conclusion, the present paper confirms the lack of efficacy of conventional therapeutic regimens in the context of advanced, recurrent or metastatic adenocarcinomas of the Bartholin gland. The case report shows how a personalized multidisciplinary approach based on repeated minimally invasive surgery and tailored anticancer treatment based on whole-genome sequencing analysis could be effective and associated with prolonged survival in this rare gynecological cancer.Antonio MacciòClelia DonisiElisabetta SannaGiacomo ChiappeSonia NemolatoLuca MelisSara OppiBrunella MolaClelia MadedduMDPI AGarticlevulvar cancerBartholin gland adenocarcinomaminimally invasive surgerywhole genomic sequencingimmunotherapymTOR inhibitorsMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2085, p 2085 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	vulvar cancer Bartholin gland adenocarcinoma minimally invasive surgery whole genomic sequencing immunotherapy mTOR inhibitors Medicine (General) R5-920
spellingShingle	vulvar cancer Bartholin gland adenocarcinoma minimally invasive surgery whole genomic sequencing immunotherapy mTOR inhibitors Medicine (General) R5-920 Antonio Macciò Clelia Donisi Elisabetta Sanna Giacomo Chiappe Sonia Nemolato Luca Melis Sara Oppi Brunella Mola Clelia Madeddu Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
description	Bartholin gland adenocarcinoma (BGA) is extremely rare and is characterized by high rates of lymph-node recurrence and distant metastases. No effective palliative treatments are available for metastatic BGA; therefore, advanced BGA remains a challenge for gynecologic oncologists. Considering the rarity of this disease and the lack of a standardized approach, the present study aims to discuss the available literature on current therapies for BGA and to describe an emblematic case treated with a novel tailored approach. A postmenopausal woman with advanced BGA was referred to our department for an adequate evaluation, staging and treatment. Notably, we used PET/CT as a fundamental imaging technique for staging and follow-up. The patient underwent primary surgery followed by standard chemotherapy and pelvic radiotherapy. Three months later, she relapsed, with the appearance of multiple metastatic sites. Considering the evident chemoresistance to standard chemotherapy and the absence of valid therapeutic alternatives for this rare cancer, she was treated with a combination of repeated minimally invasive surgical procedures for all the resectable metastatic lesions and innovative approaches comprising, firstly, chemoimmunotherapy with Nivolumab combined with metronomic vinorelbine, which resulted in a clinical response for approximately 7 months. Upon disease progression, we used a targeted systemic approach based on the whole genomic profile of the primary tumor, which showed <i>PTEN</i> loss, which is predictive of a benefit from an mTOR inhibitor, and a <i>CCND1</i> amplification, which predicts sensitivity to CDK4/6 inhibitors. Therefore, she received Everolimus, resulting in a significant metabolic response that lasted 12 months. Thereafter, upon further progression of the disease, the patient started Palbociclib treatment, which is currently ongoing, with evidence of a metabolic response. The patient has survived for 54 months from diagnosis, with a good performance status. In conclusion, the present paper confirms the lack of efficacy of conventional therapeutic regimens in the context of advanced, recurrent or metastatic adenocarcinomas of the Bartholin gland. The case report shows how a personalized multidisciplinary approach based on repeated minimally invasive surgery and tailored anticancer treatment based on whole-genome sequencing analysis could be effective and associated with prolonged survival in this rare gynecological cancer.
format	article
author	Antonio Macciò Clelia Donisi Elisabetta Sanna Giacomo Chiappe Sonia Nemolato Luca Melis Sara Oppi Brunella Mola Clelia Madeddu
author_facet	Antonio Macciò Clelia Donisi Elisabetta Sanna Giacomo Chiappe Sonia Nemolato Luca Melis Sara Oppi Brunella Mola Clelia Madeddu
author_sort	Antonio Macciò
title	Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
title_short	Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
title_full	Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
title_fullStr	Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
title_full_unstemmed	Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature
title_sort	next-generation sequencing whole-genome analysis for targeted treatment approach of metastatic bartholin gland adenocarcinoma: an emblematic case report and review of the literature
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/693b528e370d4988baa96f21880e6410
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Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature

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