Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes

Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endomet...
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Autor*in:	Agnieszka Koppolu [verfasserIn] Radosław B. Maksym [verfasserIn] Wiktor Paskal [verfasserIn] Marcin Machnicki [verfasserIn] Beata Rak [verfasserIn] Monika Pępek [verfasserIn] Filip Garbicz [verfasserIn] Kacper Pełka [verfasserIn] Zofia Kuśmierczyk [verfasserIn] Joanna Jacko [verfasserIn] Małgorzata Rydzanicz [verfasserIn] Magdalena Banach-Orłowska [verfasserIn] Tomasz Stokłosa [verfasserIn] Rafał Płoski [verfasserIn] Jacek Malejczyk [verfasserIn] Paweł K. Włodarski [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis

Übergeordnetes Werk:	In: Cells - MDPI AG, 2012, 10(2021), 4, p 749
Übergeordnetes Werk:	volume:10 ; year:2021 ; number:4, p 749

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/cells10040749

Katalog-ID:	DOAJ007575114

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520			\|a Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed.
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allfields	10.3390/cells10040749 doi (DE-627)DOAJ007575114 (DE-599)DOAJ0d6d34d42de748b4abd02f508ed3d40f DE-627 ger DE-627 rakwb eng QH573-671 Agnieszka Koppolu verfasserin aut Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed. endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology Radosław B. Maksym verfasserin aut Wiktor Paskal verfasserin aut Marcin Machnicki verfasserin aut Beata Rak verfasserin aut Monika Pępek verfasserin aut Filip Garbicz verfasserin aut Kacper Pełka verfasserin aut Zofia Kuśmierczyk verfasserin aut Joanna Jacko verfasserin aut Małgorzata Rydzanicz verfasserin aut Magdalena Banach-Orłowska verfasserin aut Tomasz Stokłosa verfasserin aut Rafał Płoski verfasserin aut Jacek Malejczyk verfasserin aut Paweł K. Włodarski verfasserin aut In Cells MDPI AG, 2012 10(2021), 4, p 749 (DE-627)718622081 (DE-600)2661518-6 20734409 nnns volume:10 year:2021 number:4, p 749 https://doi.org/10.3390/cells10040749 kostenfrei https://doaj.org/article/0d6d34d42de748b4abd02f508ed3d40f kostenfrei https://www.mdpi.com/2073-4409/10/4/749 kostenfrei https://doaj.org/toc/2073-4409 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 4, p 749
spelling	10.3390/cells10040749 doi (DE-627)DOAJ007575114 (DE-599)DOAJ0d6d34d42de748b4abd02f508ed3d40f DE-627 ger DE-627 rakwb eng QH573-671 Agnieszka Koppolu verfasserin aut Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed. endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology Radosław B. Maksym verfasserin aut Wiktor Paskal verfasserin aut Marcin Machnicki verfasserin aut Beata Rak verfasserin aut Monika Pępek verfasserin aut Filip Garbicz verfasserin aut Kacper Pełka verfasserin aut Zofia Kuśmierczyk verfasserin aut Joanna Jacko verfasserin aut Małgorzata Rydzanicz verfasserin aut Magdalena Banach-Orłowska verfasserin aut Tomasz Stokłosa verfasserin aut Rafał Płoski verfasserin aut Jacek Malejczyk verfasserin aut Paweł K. Włodarski verfasserin aut In Cells MDPI AG, 2012 10(2021), 4, p 749 (DE-627)718622081 (DE-600)2661518-6 20734409 nnns volume:10 year:2021 number:4, p 749 https://doi.org/10.3390/cells10040749 kostenfrei https://doaj.org/article/0d6d34d42de748b4abd02f508ed3d40f kostenfrei https://www.mdpi.com/2073-4409/10/4/749 kostenfrei https://doaj.org/toc/2073-4409 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 4, p 749
allfields_unstemmed	10.3390/cells10040749 doi (DE-627)DOAJ007575114 (DE-599)DOAJ0d6d34d42de748b4abd02f508ed3d40f DE-627 ger DE-627 rakwb eng QH573-671 Agnieszka Koppolu verfasserin aut Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed. endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology Radosław B. Maksym verfasserin aut Wiktor Paskal verfasserin aut Marcin Machnicki verfasserin aut Beata Rak verfasserin aut Monika Pępek verfasserin aut Filip Garbicz verfasserin aut Kacper Pełka verfasserin aut Zofia Kuśmierczyk verfasserin aut Joanna Jacko verfasserin aut Małgorzata Rydzanicz verfasserin aut Magdalena Banach-Orłowska verfasserin aut Tomasz Stokłosa verfasserin aut Rafał Płoski verfasserin aut Jacek Malejczyk verfasserin aut Paweł K. Włodarski verfasserin aut In Cells MDPI AG, 2012 10(2021), 4, p 749 (DE-627)718622081 (DE-600)2661518-6 20734409 nnns volume:10 year:2021 number:4, p 749 https://doi.org/10.3390/cells10040749 kostenfrei https://doaj.org/article/0d6d34d42de748b4abd02f508ed3d40f kostenfrei https://www.mdpi.com/2073-4409/10/4/749 kostenfrei https://doaj.org/toc/2073-4409 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 4, p 749
allfieldsGer	10.3390/cells10040749 doi (DE-627)DOAJ007575114 (DE-599)DOAJ0d6d34d42de748b4abd02f508ed3d40f DE-627 ger DE-627 rakwb eng QH573-671 Agnieszka Koppolu verfasserin aut Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed. endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology Radosław B. Maksym verfasserin aut Wiktor Paskal verfasserin aut Marcin Machnicki verfasserin aut Beata Rak verfasserin aut Monika Pępek verfasserin aut Filip Garbicz verfasserin aut Kacper Pełka verfasserin aut Zofia Kuśmierczyk verfasserin aut Joanna Jacko verfasserin aut Małgorzata Rydzanicz verfasserin aut Magdalena Banach-Orłowska verfasserin aut Tomasz Stokłosa verfasserin aut Rafał Płoski verfasserin aut Jacek Malejczyk verfasserin aut Paweł K. Włodarski verfasserin aut In Cells MDPI AG, 2012 10(2021), 4, p 749 (DE-627)718622081 (DE-600)2661518-6 20734409 nnns volume:10 year:2021 number:4, p 749 https://doi.org/10.3390/cells10040749 kostenfrei https://doaj.org/article/0d6d34d42de748b4abd02f508ed3d40f kostenfrei https://www.mdpi.com/2073-4409/10/4/749 kostenfrei https://doaj.org/toc/2073-4409 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 4, p 749
allfieldsSound	10.3390/cells10040749 doi (DE-627)DOAJ007575114 (DE-599)DOAJ0d6d34d42de748b4abd02f508ed3d40f DE-627 ger DE-627 rakwb eng QH573-671 Agnieszka Koppolu verfasserin aut Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed. endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology Radosław B. Maksym verfasserin aut Wiktor Paskal verfasserin aut Marcin Machnicki verfasserin aut Beata Rak verfasserin aut Monika Pępek verfasserin aut Filip Garbicz verfasserin aut Kacper Pełka verfasserin aut Zofia Kuśmierczyk verfasserin aut Joanna Jacko verfasserin aut Małgorzata Rydzanicz verfasserin aut Magdalena Banach-Orłowska verfasserin aut Tomasz Stokłosa verfasserin aut Rafał Płoski verfasserin aut Jacek Malejczyk verfasserin aut Paweł K. Włodarski verfasserin aut In Cells MDPI AG, 2012 10(2021), 4, p 749 (DE-627)718622081 (DE-600)2661518-6 20734409 nnns volume:10 year:2021 number:4, p 749 https://doi.org/10.3390/cells10040749 kostenfrei https://doaj.org/article/0d6d34d42de748b4abd02f508ed3d40f kostenfrei https://www.mdpi.com/2073-4409/10/4/749 kostenfrei https://doaj.org/toc/2073-4409 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2021 4, p 749
language	English
source	In Cells 10(2021), 4, p 749 volume:10 year:2021 number:4, p 749
sourceStr	In Cells 10(2021), 4, p 749 volume:10 year:2021 number:4, p 749
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis Cytology
isfreeaccess_bool	true
container_title	Cells
authorswithroles_txt_mv	Agnieszka Koppolu @@aut@@ Radosław B. Maksym @@aut@@ Wiktor Paskal @@aut@@ Marcin Machnicki @@aut@@ Beata Rak @@aut@@ Monika Pępek @@aut@@ Filip Garbicz @@aut@@ Kacper Pełka @@aut@@ Zofia Kuśmierczyk @@aut@@ Joanna Jacko @@aut@@ Małgorzata Rydzanicz @@aut@@ Magdalena Banach-Orłowska @@aut@@ Tomasz Stokłosa @@aut@@ Rafał Płoski @@aut@@ Jacek Malejczyk @@aut@@ Paweł K. Włodarski @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	718622081
id	DOAJ007575114
language_de	englisch
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callnumber-first	Q - Science
author	Agnieszka Koppolu
spellingShingle	Agnieszka Koppolu misc QH573-671 misc endometriosis misc laser-capture microdissection misc somatic variants misc NGS sequencing misc endometrial glands misc deep endometriosis misc Cytology Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
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topic_title	QH573-671 Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes endometriosis laser-capture microdissection somatic variants NGS sequencing endometrial glands deep endometriosis
topic	misc QH573-671 misc endometriosis misc laser-capture microdissection misc somatic variants misc NGS sequencing misc endometrial glands misc deep endometriosis misc Cytology
topic_unstemmed	misc QH573-671 misc endometriosis misc laser-capture microdissection misc somatic variants misc NGS sequencing misc endometrial glands misc deep endometriosis misc Cytology
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title	Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
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title_full	Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
author_sort	Agnieszka Koppolu
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author_browse	Agnieszka Koppolu Radosław B. Maksym Wiktor Paskal Marcin Machnicki Beata Rak Monika Pępek Filip Garbicz Kacper Pełka Zofia Kuśmierczyk Joanna Jacko Małgorzata Rydzanicz Magdalena Banach-Orłowska Tomasz Stokłosa Rafał Płoski Jacek Malejczyk Paweł K. Włodarski
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author-letter	Agnieszka Koppolu
doi_str_mv	10.3390/cells10040749
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title_sort	epithelial cells of deep infiltrating endometriosis harbor mutations in cancer driver genes
callnumber	QH573-671
title_auth	Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
abstract	Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed.
abstractGer	Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed.
abstract_unstemmed	Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal. We examined somatic mutations in eutopic endometrium samples, deep endometriotic nodules and peripheral blood from 13 women with deep endometriosis of the rectovaginal space. Somatic variants were identified in laser microdissected samples using next-generation sequencing. A custom panel of 1296 cancer-related genes was employed, and selected genes representing cancer drivers and non-drivers for endometrial and ovarian cancer were thoroughly investigated. All 59 detected somatic variants were of low mutated allele frequency (<10%). In deep ectopic lesions, detected variants were significantly more often located in cancer driver genes, whereas in eutopic endometrium, there was no such distribution. Our results converge with other reports, where cancer-related mutations were found in endometriosis without cancer, particularly recurrent <i<KRAS</i< mutations. Genetic alterations located in ectopic endometriotic nodules could contribute to their formation; nevertheless, to better understand the pathogenesis of this disease, more research in this area must be performed.
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title_short	Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes
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author2Str	Radosław B. Maksym Wiktor Paskal Marcin Machnicki Beata Rak Monika Pępek Filip Garbicz Kacper Pełka Zofia Kuśmierczyk Joanna Jacko Małgorzata Rydzanicz Magdalena Banach-Orłowska Tomasz Stokłosa Rafał Płoski Jacek Malejczyk Paweł K. Włodarski
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up_date	2024-07-04T02:05:14.189Z
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