Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women
Gastric-type mucinous carcinoma (GAS) of the uterine cervix is the most common adenocarcinoma that develops independently of human papillomavirus infection; it is typically diagnosed at an advanced stage and has a poorer prognosis than usual-type endocervical adenocarcinoma. Few studies have examine...
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| Veröffentlicht in: | Kurume medical journal 2022/12/31, Vol.69(3.4), pp.237-249 |
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| creator | NASU, HIROKI NISHIO, SHIN PARK, JONGMYUNG TASAKI, KAZUTO TERADA, ATSUMU TSUDA, NAOTAKE KAWANO, KOUICHIRO KOJIRO-SANADA, SAKIKO AKIBA, JUN USHIJIMA, KIMIO |
| description | Gastric-type mucinous carcinoma (GAS) of the uterine cervix is the most common adenocarcinoma that develops independently of human papillomavirus infection; it is typically diagnosed at an advanced stage and has a poorer prognosis than usual-type endocervical adenocarcinoma. Few studies have examined the molecular profile of GAS, but genetic alterations in TP53 and STK11 have been repeatedly reported. We analyzed the clinicopathological characteristics and molecular profile of GAS. Fresh-frozen tissue specimens and formalin-fixed paraffin-embedded (FFPE) tissues from 13 patients with GAS treated between January 2000 and December 2020 were analyzed. We performed next-generation sequencing on eight fresh-frozen GAS specimens using the Cancer Hotspot Panel v2 (cases 1–8) and the FoundationOne companion diagnostic (F1CDx) assay on six FFPE samples (cases 8–13). Seventy-four genomic alterations were identified in 42 genes. In order of frequency, TP53, ATRX, CDKN2A, KRAS, APC, and STK11 were altered in at least three cases. Targetable genomic alterations were identified in all six patients’ specimens analyzed using the F1CDx assay. GAS harbors various genomic alterations associated with sustained activation of signaling pathways or cell cycle regulation in addition to abnormalities in TP53, and precision medicine based on molecular profiling will be necessary to overcome GAS. |
| doi_str_mv | 10.2739/kurumemedj.MS6934018 |
| format | Article |
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Few studies have examined the molecular profile of GAS, but genetic alterations in TP53 and STK11 have been repeatedly reported. We analyzed the clinicopathological characteristics and molecular profile of GAS. Fresh-frozen tissue specimens and formalin-fixed paraffin-embedded (FFPE) tissues from 13 patients with GAS treated between January 2000 and December 2020 were analyzed. We performed next-generation sequencing on eight fresh-frozen GAS specimens using the Cancer Hotspot Panel v2 (cases 1–8) and the FoundationOne companion diagnostic (F1CDx) assay on six FFPE samples (cases 8–13). Seventy-four genomic alterations were identified in 42 genes. In order of frequency, TP53, ATRX, CDKN2A, KRAS, APC, and STK11 were altered in at least three cases. Targetable genomic alterations were identified in all six patients’ specimens analyzed using the F1CDx assay. GAS harbors various genomic alterations associated with sustained activation of signaling pathways or cell cycle regulation in addition to abnormalities in TP53, and precision medicine based on molecular profiling will be necessary to overcome GAS.</description><identifier>ISSN: 0023-5679</identifier><identifier>ISSN: 1881-2090</identifier><identifier>EISSN: 1881-2090</identifier><identifier>DOI: 10.2739/kurumemedj.MS6934018</identifier><identifier>PMID: 38369337</identifier><language>eng</language><publisher>Japan: Kurume University School of Medicine</publisher><subject>Adenocarcinoma, Mucinous - genetics ; Adenocarcinoma, Mucinous - pathology ; Adult ; Aged ; Biomarkers, Tumor - genetics ; East Asian People ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Japan ; Middle Aged ; Mutation ; Uterine Cervical Neoplasms - genetics ; Uterine Cervical Neoplasms - pathology ; Uterine Cervical Neoplasms - virology</subject><ispartof>The Kurume Medical Journal, 2022/12/31, Vol.69(3.4), pp.237-249</ispartof><rights>2024 Kurume University School of Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c4538-a00c9e079563376153a14f0a310c72bb196552c3f5eaf550358c51520d3ae7c33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1877,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38369337$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>NASU, HIROKI</creatorcontrib><creatorcontrib>NISHIO, SHIN</creatorcontrib><creatorcontrib>PARK, JONGMYUNG</creatorcontrib><creatorcontrib>TASAKI, KAZUTO</creatorcontrib><creatorcontrib>TERADA, ATSUMU</creatorcontrib><creatorcontrib>TSUDA, NAOTAKE</creatorcontrib><creatorcontrib>KAWANO, KOUICHIRO</creatorcontrib><creatorcontrib>KOJIRO-SANADA, SAKIKO</creatorcontrib><creatorcontrib>AKIBA, JUN</creatorcontrib><creatorcontrib>USHIJIMA, KIMIO</creatorcontrib><title>Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women</title><title>Kurume medical journal</title><addtitle>Kurume Med. J.</addtitle><description>Gastric-type mucinous carcinoma (GAS) of the uterine cervix is the most common adenocarcinoma that develops independently of human papillomavirus infection; it is typically diagnosed at an advanced stage and has a poorer prognosis than usual-type endocervical adenocarcinoma. Few studies have examined the molecular profile of GAS, but genetic alterations in TP53 and STK11 have been repeatedly reported. We analyzed the clinicopathological characteristics and molecular profile of GAS. Fresh-frozen tissue specimens and formalin-fixed paraffin-embedded (FFPE) tissues from 13 patients with GAS treated between January 2000 and December 2020 were analyzed. We performed next-generation sequencing on eight fresh-frozen GAS specimens using the Cancer Hotspot Panel v2 (cases 1–8) and the FoundationOne companion diagnostic (F1CDx) assay on six FFPE samples (cases 8–13). Seventy-four genomic alterations were identified in 42 genes. In order of frequency, TP53, ATRX, CDKN2A, KRAS, APC, and STK11 were altered in at least three cases. Targetable genomic alterations were identified in all six patients’ specimens analyzed using the F1CDx assay. GAS harbors various genomic alterations associated with sustained activation of signaling pathways or cell cycle regulation in addition to abnormalities in TP53, and precision medicine based on molecular profiling will be necessary to overcome GAS.</description><subject>Adenocarcinoma, Mucinous - genetics</subject><subject>Adenocarcinoma, Mucinous - pathology</subject><subject>Adult</subject><subject>Aged</subject><subject>Biomarkers, Tumor - genetics</subject><subject>East Asian People</subject><subject>Female</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Japan</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Uterine Cervical Neoplasms - genetics</subject><subject>Uterine Cervical Neoplasms - pathology</subject><subject>Uterine Cervical Neoplasms - virology</subject><issn>0023-5679</issn><issn>1881-2090</issn><issn>1881-2090</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkcFu1DAQhi1ERZeWN0DIRy5p7ThO7COKaAFtRaW24mjNeie7XpI42ElF34MHxtG2gdOMNN__z9g_Ie85u8groS9_TmHqsMPt4eLmrtSiYFy9IiuuFM9yptlrsmIsF5ksK31K3sZ4YKxQKmdvyKlQIilEtSJ_at8NAffYR_eI9Ma3aKcWAr0NvnGt63cU-i2tU-esH2Dc-9bvnIWW1nsIYEcMLo7ORuobeg1xDM5m909D8pqs6_0UaQ1h7jqYkXGP9GEW9UhrDI_uN3U9_QYD9BiR_vAd9ufkpIE24rvnekYerj7f11-y9ffrr_WndWYLKVQGjFmNrNKyTG8puRTAi4aB4MxW-WbDdSllbkUjERopmZDKSi5zthWAlRXijHw8-g7B_5owjqZz0WLbplvS4SbXuZJKFloltDiiNvgYAzZmCK6D8GQ4M3Me5l8eZskjyT48b5g2abSIXgJIwPoIHOIIO1wACOlPW_zftdRGmGIui_-C2ZSFwV78Bbdwp7M</recordid><startdate>20221231</startdate><enddate>20221231</enddate><creator>NASU, HIROKI</creator><creator>NISHIO, SHIN</creator><creator>PARK, JONGMYUNG</creator><creator>TASAKI, KAZUTO</creator><creator>TERADA, ATSUMU</creator><creator>TSUDA, NAOTAKE</creator><creator>KAWANO, KOUICHIRO</creator><creator>KOJIRO-SANADA, SAKIKO</creator><creator>AKIBA, JUN</creator><creator>USHIJIMA, KIMIO</creator><general>Kurume University School of Medicine</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20221231</creationdate><title>Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women</title><author>NASU, HIROKI ; NISHIO, SHIN ; PARK, JONGMYUNG ; TASAKI, KAZUTO ; TERADA, ATSUMU ; TSUDA, NAOTAKE ; KAWANO, KOUICHIRO ; KOJIRO-SANADA, SAKIKO ; AKIBA, JUN ; USHIJIMA, KIMIO</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4538-a00c9e079563376153a14f0a310c72bb196552c3f5eaf550358c51520d3ae7c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adenocarcinoma, Mucinous - genetics</topic><topic>Adenocarcinoma, Mucinous - pathology</topic><topic>Adult</topic><topic>Aged</topic><topic>Biomarkers, Tumor - genetics</topic><topic>East Asian People</topic><topic>Female</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Japan</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Uterine Cervical Neoplasms - genetics</topic><topic>Uterine Cervical Neoplasms - pathology</topic><topic>Uterine Cervical Neoplasms - virology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NASU, HIROKI</creatorcontrib><creatorcontrib>NISHIO, SHIN</creatorcontrib><creatorcontrib>PARK, JONGMYUNG</creatorcontrib><creatorcontrib>TASAKI, KAZUTO</creatorcontrib><creatorcontrib>TERADA, ATSUMU</creatorcontrib><creatorcontrib>TSUDA, NAOTAKE</creatorcontrib><creatorcontrib>KAWANO, KOUICHIRO</creatorcontrib><creatorcontrib>KOJIRO-SANADA, SAKIKO</creatorcontrib><creatorcontrib>AKIBA, JUN</creatorcontrib><creatorcontrib>USHIJIMA, KIMIO</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Kurume medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NASU, HIROKI</au><au>NISHIO, SHIN</au><au>PARK, JONGMYUNG</au><au>TASAKI, KAZUTO</au><au>TERADA, ATSUMU</au><au>TSUDA, NAOTAKE</au><au>KAWANO, KOUICHIRO</au><au>KOJIRO-SANADA, SAKIKO</au><au>AKIBA, JUN</au><au>USHIJIMA, KIMIO</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women</atitle><jtitle>Kurume medical journal</jtitle><addtitle>Kurume Med. 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We performed next-generation sequencing on eight fresh-frozen GAS specimens using the Cancer Hotspot Panel v2 (cases 1–8) and the FoundationOne companion diagnostic (F1CDx) assay on six FFPE samples (cases 8–13). Seventy-four genomic alterations were identified in 42 genes. In order of frequency, TP53, ATRX, CDKN2A, KRAS, APC, and STK11 were altered in at least three cases. Targetable genomic alterations were identified in all six patients’ specimens analyzed using the F1CDx assay. GAS harbors various genomic alterations associated with sustained activation of signaling pathways or cell cycle regulation in addition to abnormalities in TP53, and precision medicine based on molecular profiling will be necessary to overcome GAS.</abstract><cop>Japan</cop><pub>Kurume University School of Medicine</pub><pmid>38369337</pmid><doi>10.2739/kurumemedj.MS6934018</doi><tpages>13</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adenocarcinoma, Mucinous - genetics Adenocarcinoma, Mucinous - pathology Adult Aged Biomarkers, Tumor - genetics East Asian People Female High-Throughput Nucleotide Sequencing Humans Japan Middle Aged Mutation Uterine Cervical Neoplasms - genetics Uterine Cervical Neoplasms - pathology Uterine Cervical Neoplasms - virology |
| title | Comprehensive Molecular Profiling and Clinicopathological Characteristics of Gastric-Type Mucinous Carcinoma of the Uterine Cervix in Japanese Women |
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