Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group
Endometrial stromal sarcoma (ESS) is a rare uterine malignancy that requires accurate pathological diagnosis for proper treatment. This study aimed to clarify the discrepancies in the pathological diagnosis of ESS and obtain practical clues to improve diagnostic accuracy. Between 2002 and 2015, 148...
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| Veröffentlicht in: | Human pathology 2022-06, Vol.124, p.24-35 |
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| creator | Yoshida, Hiroshi Kikuchi, Akira Tsuda, Hitoshi Sakamoto, Atsuhiko Fukunaga, Masaharu Kaku, Tsunehisa Yoshida, Masayuki Shikama, Ayumi Kogata, Yuhei Terao, Yasuhisa Tanikawa, Michihiro Yasuoka, Toshiaki Chiyoda, Tatsuyuki Miyamoto, Tsutomu Okadome, Masao Nakamura, Toshiaki Enomoto, Takayuki Konno, Yosuke Yahata, Hideaki Hirata, Yukihiro Aoki, Yoichi Tokunaga, Hideki Usui, Hirokazu Yaegashi, Nobuo |
| description | Endometrial stromal sarcoma (ESS) is a rare uterine malignancy that requires accurate pathological diagnosis for proper treatment. This study aimed to clarify the discrepancies in the pathological diagnosis of ESS and obtain practical clues to improve diagnostic accuracy. Between 2002 and 2015, 148 patients with low-grade ESS (LGESS), high-grade ESS (HGESS), undifferentiated endometrial sarcoma (UES), or undifferentiated uterine sarcoma (UUS) diagnosed at 31 institutions were included. We performed immunohistochemistry, real-time polymerase chain reaction for JAZF1-SUZ12 and YWHAE-NUTM2A/B, and break-apart fluorescent in situ hybridization for JAZF1, PHF1, and YWHAE. Central pathology review (CPR) was performed by six pathologists. After CPR, LGESS, HGESS, UES/UUS, and other diagnoses were confirmed in 72, 25, 16, and 31 cases, respectively. Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES. Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls. JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected in 23 LGESS, 3 LGESS, and 1 LGESS plus 3 HGESS, respectively. JAZF1-SUZ12 and YWHAE-NUTM2A/B transcripts were detected only in cases with CPR diagnosis of LGESS or HGESS. The CPR diagnosis of LGESS, HGESS, and UUS was a significant prognosticator, and patients with LGESS depicted a favorable prognosis, while those with UUS showed the worst prognosis. Pathological diagnosis of ESS is often challenging and certain tumors should be carefully considered. The accurate pathological diagnosis with the aid of molecular testing is essential for prognostic prediction and treatment selection.
•Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES.•Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls.•JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected.•The central pathological diagnosis of LGESS, HGESS, and UUS was a significant prognosticator. |
| doi_str_mv | 10.1016/j.humpath.2022.03.007 |
| format | Article |
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•Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES.•Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls.•JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected.•The central pathological diagnosis of LGESS, HGESS, and UUS was a significant prognosticator.</description><identifier>ISSN: 0046-8177</identifier><identifier>EISSN: 1532-8392</identifier><identifier>DOI: 10.1016/j.humpath.2022.03.007</identifier><identifier>PMID: 35339567</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Classification ; Endometrial cancer ; Endometrial Neoplasms - diagnosis ; Endometrial Neoplasms - genetics ; Endometrial Neoplasms - pathology ; Endometrial stromal sarcoma ; Female ; Fluorescence in situ hybridization ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Japan ; Medical Oncology ; Medical prognosis ; Morphology ; Pathological diagnosis ; Pathology ; Patients ; Real-time PCR ; Retrospective Studies ; Sarcoma ; Sarcoma - pathology ; Sarcoma, Endometrial Stromal - diagnosis ; Sarcoma, Endometrial Stromal - genetics ; Sarcoma, Endometrial Stromal - pathology ; Statistical analysis ; Survival analysis ; Transcription Factors - genetics ; Tumors ; Uterine cancer ; Uterine sarcoma</subject><ispartof>Human pathology, 2022-06, Vol.124, p.24-35</ispartof><rights>2022 Elsevier Inc.</rights><rights>Copyright © 2022 Elsevier Inc. All rights reserved.</rights><rights>2022. Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c459t-678b55815da77dbd94caec9ce082372fdf57756fcdcb85003cc4e5f33abe85223</citedby><cites>FETCH-LOGICAL-c459t-678b55815da77dbd94caec9ce082372fdf57756fcdcb85003cc4e5f33abe85223</cites><orcidid>0000-0002-7569-7813</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0046817722000739$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27902,27903,65308</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35339567$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yoshida, Hiroshi</creatorcontrib><creatorcontrib>Kikuchi, Akira</creatorcontrib><creatorcontrib>Tsuda, Hitoshi</creatorcontrib><creatorcontrib>Sakamoto, Atsuhiko</creatorcontrib><creatorcontrib>Fukunaga, Masaharu</creatorcontrib><creatorcontrib>Kaku, Tsunehisa</creatorcontrib><creatorcontrib>Yoshida, Masayuki</creatorcontrib><creatorcontrib>Shikama, Ayumi</creatorcontrib><creatorcontrib>Kogata, Yuhei</creatorcontrib><creatorcontrib>Terao, Yasuhisa</creatorcontrib><creatorcontrib>Tanikawa, Michihiro</creatorcontrib><creatorcontrib>Yasuoka, Toshiaki</creatorcontrib><creatorcontrib>Chiyoda, Tatsuyuki</creatorcontrib><creatorcontrib>Miyamoto, Tsutomu</creatorcontrib><creatorcontrib>Okadome, Masao</creatorcontrib><creatorcontrib>Nakamura, Toshiaki</creatorcontrib><creatorcontrib>Enomoto, Takayuki</creatorcontrib><creatorcontrib>Konno, Yosuke</creatorcontrib><creatorcontrib>Yahata, Hideaki</creatorcontrib><creatorcontrib>Hirata, Yukihiro</creatorcontrib><creatorcontrib>Aoki, Yoichi</creatorcontrib><creatorcontrib>Tokunaga, Hideki</creatorcontrib><creatorcontrib>Usui, Hirokazu</creatorcontrib><creatorcontrib>Yaegashi, Nobuo</creatorcontrib><title>Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group</title><title>Human pathology</title><addtitle>Hum Pathol</addtitle><description>Endometrial stromal sarcoma (ESS) is a rare uterine malignancy that requires accurate pathological diagnosis for proper treatment. This study aimed to clarify the discrepancies in the pathological diagnosis of ESS and obtain practical clues to improve diagnostic accuracy. Between 2002 and 2015, 148 patients with low-grade ESS (LGESS), high-grade ESS (HGESS), undifferentiated endometrial sarcoma (UES), or undifferentiated uterine sarcoma (UUS) diagnosed at 31 institutions were included. We performed immunohistochemistry, real-time polymerase chain reaction for JAZF1-SUZ12 and YWHAE-NUTM2A/B, and break-apart fluorescent in situ hybridization for JAZF1, PHF1, and YWHAE. Central pathology review (CPR) was performed by six pathologists. After CPR, LGESS, HGESS, UES/UUS, and other diagnoses were confirmed in 72, 25, 16, and 31 cases, respectively. Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES. Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls. JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected in 23 LGESS, 3 LGESS, and 1 LGESS plus 3 HGESS, respectively. JAZF1-SUZ12 and YWHAE-NUTM2A/B transcripts were detected only in cases with CPR diagnosis of LGESS or HGESS. The CPR diagnosis of LGESS, HGESS, and UUS was a significant prognosticator, and patients with LGESS depicted a favorable prognosis, while those with UUS showed the worst prognosis. Pathological diagnosis of ESS is often challenging and certain tumors should be carefully considered. The accurate pathological diagnosis with the aid of molecular testing is essential for prognostic prediction and treatment selection.
•Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES.•Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls.•JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected.•The central pathological diagnosis of LGESS, HGESS, and UUS was a significant prognosticator.</description><subject>Classification</subject><subject>Endometrial cancer</subject><subject>Endometrial Neoplasms - diagnosis</subject><subject>Endometrial Neoplasms - genetics</subject><subject>Endometrial Neoplasms - pathology</subject><subject>Endometrial stromal sarcoma</subject><subject>Female</subject><subject>Fluorescence in situ hybridization</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Japan</subject><subject>Medical Oncology</subject><subject>Medical prognosis</subject><subject>Morphology</subject><subject>Pathological diagnosis</subject><subject>Pathology</subject><subject>Patients</subject><subject>Real-time PCR</subject><subject>Retrospective Studies</subject><subject>Sarcoma</subject><subject>Sarcoma - pathology</subject><subject>Sarcoma, Endometrial Stromal - diagnosis</subject><subject>Sarcoma, Endometrial Stromal - genetics</subject><subject>Sarcoma, Endometrial Stromal - pathology</subject><subject>Statistical analysis</subject><subject>Survival analysis</subject><subject>Transcription Factors - genetics</subject><subject>Tumors</subject><subject>Uterine cancer</subject><subject>Uterine sarcoma</subject><issn>0046-8177</issn><issn>1532-8392</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkcuO1DAQRS0EYpqBTwBZYsMmwY_YTtig0fDWSGxgbTl2pdutJA62M1J_Cz-LQzcs2LAqS3VuXVddhJ5TUlNC5etjfVinxeRDzQhjNeE1IeoB2lHBWdXyjj1EO0IaWbVUqSv0JKUjIZSKRjxGV1xw3gmpdujnO59shMXM1kPCfsbbzDCGvbdmxM6b_RySTzgMGGYXJsjRl0bKMUxbNdGWxxts8LSO2Vd-TtnnNfswl3YseEgL2OzvoYhWd8JDUeJ8APzFFFtIgO3o5992Ybab9QnvY1iXp-jRYMYEzy71Gn3_8P7b7afq7uvHz7c3d5VtRJcrqdpeiJYKZ5Ryvesaa8B2FkjLuGKDG4RSQg7W2b4VhHBrGxAD56aHVjDGr9Gr89wlhh8rpKynchQYx_K7sCbNZNNw0bFOFPTlP-gxrLFsulFSCCkVpYUSZ8qW5VOEQS_RTyaeNCV6S08f9SU9vaWnCdclvaJ7cZm-9hO4v6o_cRXg7RmAco57D1GnEttswflYbqxd8P-x-AXEWbLU</recordid><startdate>202206</startdate><enddate>202206</enddate><creator>Yoshida, Hiroshi</creator><creator>Kikuchi, Akira</creator><creator>Tsuda, Hitoshi</creator><creator>Sakamoto, Atsuhiko</creator><creator>Fukunaga, Masaharu</creator><creator>Kaku, Tsunehisa</creator><creator>Yoshida, Masayuki</creator><creator>Shikama, Ayumi</creator><creator>Kogata, Yuhei</creator><creator>Terao, Yasuhisa</creator><creator>Tanikawa, Michihiro</creator><creator>Yasuoka, Toshiaki</creator><creator>Chiyoda, Tatsuyuki</creator><creator>Miyamoto, Tsutomu</creator><creator>Okadome, Masao</creator><creator>Nakamura, Toshiaki</creator><creator>Enomoto, Takayuki</creator><creator>Konno, Yosuke</creator><creator>Yahata, Hideaki</creator><creator>Hirata, Yukihiro</creator><creator>Aoki, Yoichi</creator><creator>Tokunaga, Hideki</creator><creator>Usui, Hirokazu</creator><creator>Yaegashi, Nobuo</creator><general>Elsevier Inc</general><general>Elsevier Limited</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>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-7569-7813</orcidid></search><sort><creationdate>202206</creationdate><title>Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group</title><author>Yoshida, Hiroshi ; Kikuchi, Akira ; Tsuda, Hitoshi ; Sakamoto, Atsuhiko ; Fukunaga, Masaharu ; Kaku, Tsunehisa ; Yoshida, Masayuki ; Shikama, Ayumi ; Kogata, Yuhei ; Terao, Yasuhisa ; Tanikawa, Michihiro ; Yasuoka, Toshiaki ; Chiyoda, Tatsuyuki ; Miyamoto, Tsutomu ; Okadome, Masao ; Nakamura, Toshiaki ; Enomoto, Takayuki ; Konno, Yosuke ; Yahata, Hideaki ; Hirata, Yukihiro ; Aoki, Yoichi ; Tokunaga, Hideki ; Usui, Hirokazu ; Yaegashi, Nobuo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c459t-678b55815da77dbd94caec9ce082372fdf57756fcdcb85003cc4e5f33abe85223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Classification</topic><topic>Endometrial cancer</topic><topic>Endometrial Neoplasms - diagnosis</topic><topic>Endometrial Neoplasms - genetics</topic><topic>Endometrial Neoplasms - pathology</topic><topic>Endometrial stromal sarcoma</topic><topic>Female</topic><topic>Fluorescence in situ hybridization</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Japan</topic><topic>Medical Oncology</topic><topic>Medical prognosis</topic><topic>Morphology</topic><topic>Pathological diagnosis</topic><topic>Pathology</topic><topic>Patients</topic><topic>Real-time PCR</topic><topic>Retrospective Studies</topic><topic>Sarcoma</topic><topic>Sarcoma - pathology</topic><topic>Sarcoma, Endometrial Stromal - diagnosis</topic><topic>Sarcoma, Endometrial Stromal - genetics</topic><topic>Sarcoma, Endometrial Stromal - pathology</topic><topic>Statistical analysis</topic><topic>Survival analysis</topic><topic>Transcription Factors - genetics</topic><topic>Tumors</topic><topic>Uterine cancer</topic><topic>Uterine sarcoma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yoshida, Hiroshi</creatorcontrib><creatorcontrib>Kikuchi, Akira</creatorcontrib><creatorcontrib>Tsuda, Hitoshi</creatorcontrib><creatorcontrib>Sakamoto, Atsuhiko</creatorcontrib><creatorcontrib>Fukunaga, Masaharu</creatorcontrib><creatorcontrib>Kaku, Tsunehisa</creatorcontrib><creatorcontrib>Yoshida, Masayuki</creatorcontrib><creatorcontrib>Shikama, Ayumi</creatorcontrib><creatorcontrib>Kogata, Yuhei</creatorcontrib><creatorcontrib>Terao, Yasuhisa</creatorcontrib><creatorcontrib>Tanikawa, Michihiro</creatorcontrib><creatorcontrib>Yasuoka, Toshiaki</creatorcontrib><creatorcontrib>Chiyoda, Tatsuyuki</creatorcontrib><creatorcontrib>Miyamoto, Tsutomu</creatorcontrib><creatorcontrib>Okadome, Masao</creatorcontrib><creatorcontrib>Nakamura, Toshiaki</creatorcontrib><creatorcontrib>Enomoto, Takayuki</creatorcontrib><creatorcontrib>Konno, Yosuke</creatorcontrib><creatorcontrib>Yahata, Hideaki</creatorcontrib><creatorcontrib>Hirata, Yukihiro</creatorcontrib><creatorcontrib>Aoki, Yoichi</creatorcontrib><creatorcontrib>Tokunaga, Hideki</creatorcontrib><creatorcontrib>Usui, Hirokazu</creatorcontrib><creatorcontrib>Yaegashi, Nobuo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Human pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yoshida, Hiroshi</au><au>Kikuchi, Akira</au><au>Tsuda, Hitoshi</au><au>Sakamoto, Atsuhiko</au><au>Fukunaga, Masaharu</au><au>Kaku, Tsunehisa</au><au>Yoshida, Masayuki</au><au>Shikama, Ayumi</au><au>Kogata, Yuhei</au><au>Terao, Yasuhisa</au><au>Tanikawa, Michihiro</au><au>Yasuoka, Toshiaki</au><au>Chiyoda, Tatsuyuki</au><au>Miyamoto, Tsutomu</au><au>Okadome, Masao</au><au>Nakamura, Toshiaki</au><au>Enomoto, Takayuki</au><au>Konno, Yosuke</au><au>Yahata, Hideaki</au><au>Hirata, Yukihiro</au><au>Aoki, Yoichi</au><au>Tokunaga, Hideki</au><au>Usui, Hirokazu</au><au>Yaegashi, Nobuo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group</atitle><jtitle>Human pathology</jtitle><addtitle>Hum Pathol</addtitle><date>2022-06</date><risdate>2022</risdate><volume>124</volume><spage>24</spage><epage>35</epage><pages>24-35</pages><issn>0046-8177</issn><eissn>1532-8392</eissn><abstract>Endometrial stromal sarcoma (ESS) is a rare uterine malignancy that requires accurate pathological diagnosis for proper treatment. This study aimed to clarify the discrepancies in the pathological diagnosis of ESS and obtain practical clues to improve diagnostic accuracy. Between 2002 and 2015, 148 patients with low-grade ESS (LGESS), high-grade ESS (HGESS), undifferentiated endometrial sarcoma (UES), or undifferentiated uterine sarcoma (UUS) diagnosed at 31 institutions were included. We performed immunohistochemistry, real-time polymerase chain reaction for JAZF1-SUZ12 and YWHAE-NUTM2A/B, and break-apart fluorescent in situ hybridization for JAZF1, PHF1, and YWHAE. Central pathology review (CPR) was performed by six pathologists. After CPR, LGESS, HGESS, UES/UUS, and other diagnoses were confirmed in 72, 25, 16, and 31 cases, respectively. Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES. Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls. JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected in 23 LGESS, 3 LGESS, and 1 LGESS plus 3 HGESS, respectively. JAZF1-SUZ12 and YWHAE-NUTM2A/B transcripts were detected only in cases with CPR diagnosis of LGESS or HGESS. The CPR diagnosis of LGESS, HGESS, and UUS was a significant prognosticator, and patients with LGESS depicted a favorable prognosis, while those with UUS showed the worst prognosis. Pathological diagnosis of ESS is often challenging and certain tumors should be carefully considered. The accurate pathological diagnosis with the aid of molecular testing is essential for prognostic prediction and treatment selection.
•Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES.•Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls.•JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected.•The central pathological diagnosis of LGESS, HGESS, and UUS was a significant prognosticator.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>35339567</pmid><doi>10.1016/j.humpath.2022.03.007</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-7569-7813</orcidid></addata></record> |
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| ispartof | Human pathology, 2022-06, Vol.124, p.24-35 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Classification Endometrial cancer Endometrial Neoplasms - diagnosis Endometrial Neoplasms - genetics Endometrial Neoplasms - pathology Endometrial stromal sarcoma Female Fluorescence in situ hybridization Humans Immunohistochemistry In Situ Hybridization, Fluorescence Japan Medical Oncology Medical prognosis Morphology Pathological diagnosis Pathology Patients Real-time PCR Retrospective Studies Sarcoma Sarcoma - pathology Sarcoma, Endometrial Stromal - diagnosis Sarcoma, Endometrial Stromal - genetics Sarcoma, Endometrial Stromal - pathology Statistical analysis Survival analysis Transcription Factors - genetics Tumors Uterine cancer Uterine sarcoma |
| title | Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group |
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