Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene

Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this...
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Autor*in:	Deniss Sõritsa [verfasserIn] Hindrek Teder [verfasserIn] Retlav Roosipuu [verfasserIn] Hannes Tamm [verfasserIn] Triin Laisk-Podar [verfasserIn] Pille Soplepmann [verfasserIn] Alan Altraja [verfasserIn] Andres Salumets [verfasserIn] Maire Peters [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation

Übergeordnetes Werk:	In: BMC Medical Genetics - BMC, 2003, 19(2018), 1, Seite 7
Übergeordnetes Werk:	volume:19 ; year:2018 ; number:1 ; pages:7

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s12881-018-0537-5

Katalog-ID:	DOAJ062143735

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520			\|a Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
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650		4	\|a BMP8B
650		4	\|a Endometriosis
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650		4	\|a Somatic gene mutation
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700	0		\|a Andres Salumets \|e verfasserin \|4 aut
700	0		\|a Maire Peters \|e verfasserin \|4 aut
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allfields	10.1186/s12881-018-0537-5 doi (DE-627)DOAJ062143735 (DE-599)DOAJ305561ef3ab447bd874ea40475771bee DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Deniss Sõritsa verfasserin aut Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases. Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics Hindrek Teder verfasserin aut Retlav Roosipuu verfasserin aut Hannes Tamm verfasserin aut Triin Laisk-Podar verfasserin aut Pille Soplepmann verfasserin aut Alan Altraja verfasserin aut Andres Salumets verfasserin aut Maire Peters verfasserin aut In BMC Medical Genetics BMC, 2003 19(2018), 1, Seite 7 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:19 year:2018 number:1 pages:7 https://doi.org/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/article/305561ef3ab447bd874ea40475771bee kostenfrei http://link.springer.com/article/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 7
spelling	10.1186/s12881-018-0537-5 doi (DE-627)DOAJ062143735 (DE-599)DOAJ305561ef3ab447bd874ea40475771bee DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Deniss Sõritsa verfasserin aut Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases. Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics Hindrek Teder verfasserin aut Retlav Roosipuu verfasserin aut Hannes Tamm verfasserin aut Triin Laisk-Podar verfasserin aut Pille Soplepmann verfasserin aut Alan Altraja verfasserin aut Andres Salumets verfasserin aut Maire Peters verfasserin aut In BMC Medical Genetics BMC, 2003 19(2018), 1, Seite 7 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:19 year:2018 number:1 pages:7 https://doi.org/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/article/305561ef3ab447bd874ea40475771bee kostenfrei http://link.springer.com/article/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 7
allfields_unstemmed	10.1186/s12881-018-0537-5 doi (DE-627)DOAJ062143735 (DE-599)DOAJ305561ef3ab447bd874ea40475771bee DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Deniss Sõritsa verfasserin aut Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases. Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics Hindrek Teder verfasserin aut Retlav Roosipuu verfasserin aut Hannes Tamm verfasserin aut Triin Laisk-Podar verfasserin aut Pille Soplepmann verfasserin aut Alan Altraja verfasserin aut Andres Salumets verfasserin aut Maire Peters verfasserin aut In BMC Medical Genetics BMC, 2003 19(2018), 1, Seite 7 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:19 year:2018 number:1 pages:7 https://doi.org/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/article/305561ef3ab447bd874ea40475771bee kostenfrei http://link.springer.com/article/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 7
allfieldsGer	10.1186/s12881-018-0537-5 doi (DE-627)DOAJ062143735 (DE-599)DOAJ305561ef3ab447bd874ea40475771bee DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Deniss Sõritsa verfasserin aut Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases. Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics Hindrek Teder verfasserin aut Retlav Roosipuu verfasserin aut Hannes Tamm verfasserin aut Triin Laisk-Podar verfasserin aut Pille Soplepmann verfasserin aut Alan Altraja verfasserin aut Andres Salumets verfasserin aut Maire Peters verfasserin aut In BMC Medical Genetics BMC, 2003 19(2018), 1, Seite 7 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:19 year:2018 number:1 pages:7 https://doi.org/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/article/305561ef3ab447bd874ea40475771bee kostenfrei http://link.springer.com/article/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 7
allfieldsSound	10.1186/s12881-018-0537-5 doi (DE-627)DOAJ062143735 (DE-599)DOAJ305561ef3ab447bd874ea40475771bee DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Deniss Sõritsa verfasserin aut Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases. Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics Hindrek Teder verfasserin aut Retlav Roosipuu verfasserin aut Hannes Tamm verfasserin aut Triin Laisk-Podar verfasserin aut Pille Soplepmann verfasserin aut Alan Altraja verfasserin aut Andres Salumets verfasserin aut Maire Peters verfasserin aut In BMC Medical Genetics BMC, 2003 19(2018), 1, Seite 7 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:19 year:2018 number:1 pages:7 https://doi.org/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/article/305561ef3ab447bd874ea40475771bee kostenfrei http://link.springer.com/article/10.1186/s12881-018-0537-5 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2018 1 7
language	English
source	In BMC Medical Genetics 19(2018), 1, Seite 7 volume:19 year:2018 number:1 pages:7
sourceStr	In BMC Medical Genetics 19(2018), 1, Seite 7 volume:19 year:2018 number:1 pages:7
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation Internal medicine Genetics
isfreeaccess_bool	true
container_title	BMC Medical Genetics
authorswithroles_txt_mv	Deniss Sõritsa @@aut@@ Hindrek Teder @@aut@@ Retlav Roosipuu @@aut@@ Hannes Tamm @@aut@@ Triin Laisk-Podar @@aut@@ Pille Soplepmann @@aut@@ Alan Altraja @@aut@@ Andres Salumets @@aut@@ Maire Peters @@aut@@
publishDateDaySort_date	2018-01-01T00:00:00Z
hierarchy_top_id	326643788
id	DOAJ062143735
language_de	englisch
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Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. 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callnumber-first	R - Medicine
author	Deniss Sõritsa
spellingShingle	Deniss Sõritsa misc RC31-1245 misc QH426-470 misc Benign metastasizing leiomyoma misc BMP8B misc Endometriosis misc GnRH agonists misc Pulmonary lesion misc Somatic gene mutation misc Internal medicine misc Genetics Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
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topic_title	RC31-1245 QH426-470 Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene Benign metastasizing leiomyoma BMP8B Endometriosis GnRH agonists Pulmonary lesion Somatic gene mutation
topic	misc RC31-1245 misc QH426-470 misc Benign metastasizing leiomyoma misc BMP8B misc Endometriosis misc GnRH agonists misc Pulmonary lesion misc Somatic gene mutation misc Internal medicine misc Genetics
topic_unstemmed	misc RC31-1245 misc QH426-470 misc Benign metastasizing leiomyoma misc BMP8B misc Endometriosis misc GnRH agonists misc Pulmonary lesion misc Somatic gene mutation misc Internal medicine misc Genetics
topic_browse	misc RC31-1245 misc QH426-470 misc Benign metastasizing leiomyoma misc BMP8B misc Endometriosis misc GnRH agonists misc Pulmonary lesion misc Somatic gene mutation misc Internal medicine misc Genetics
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title	Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
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title_full	Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
author_sort	Deniss Sõritsa
journal	BMC Medical Genetics
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author_browse	Deniss Sõritsa Hindrek Teder Retlav Roosipuu Hannes Tamm Triin Laisk-Podar Pille Soplepmann Alan Altraja Andres Salumets Maire Peters
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title_sort	whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the bmp8b gene
callnumber	RC31-1245
title_auth	Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
abstract	Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
abstractGer	Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
abstract_unstemmed	Abstract Background Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Case presentation We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. Conclusions We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A < G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
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container_issue	1
title_short	Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene
url	https://doi.org/10.1186/s12881-018-0537-5 https://doaj.org/article/305561ef3ab447bd874ea40475771bee http://link.springer.com/article/10.1186/s12881-018-0537-5 https://doaj.org/toc/1471-2350
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author2	Hindrek Teder Retlav Roosipuu Hannes Tamm Triin Laisk-Podar Pille Soplepmann Alan Altraja Andres Salumets Maire Peters
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Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene

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