TY - JOUR
T1 - Discrepancies in pathological diagnosis of endometrial stromal sarcoma
T2 - a multi-institutional retrospective study from the Japanese clinical oncology group
AU - Yoshida, Hiroshi
AU - Kikuchi, Akira
AU - Tsuda, Hitoshi
AU - Sakamoto, Atsuhiko
AU - Fukunaga, Masaharu
AU - Kaku, Tsunehisa
AU - Yoshida, Masayuki
AU - Shikama, Ayumi
AU - Kogata, Yuhei
AU - Terao, Yasuhisa
AU - Tanikawa, Michihiro
AU - Yasuoka, Toshiaki
AU - Chiyoda, Tatsuyuki
AU - Miyamoto, Tsutomu
AU - Okadome, Masao
AU - Nakamura, Toshiaki
AU - Enomoto, Takayuki
AU - Konno, Yosuke
AU - Yahata, Hideaki
AU - Hirata, Yukihiro
AU - Aoki, Yoichi
AU - Tokunaga, Hideki
AU - Usui, Hirokazu
AU - Yaegashi, Nobuo
N1 - Funding Information:
This work was by the National Cancer Center Research and Development Fund of Japan (23-A-17, 26-A-4, 29-A-3, and 2020-J-3). The authors are grateful to Dr. Takashi Kawasaki and all the technical staff of the Niigata Cancer Center and to the other doctors and technical staff at the participating institutions in the JCOG Gynecologic Cancer Study Group (GCSG) for their help and support. The following JCOG-GCSG institutions participated in this study: University of Tsukuba, Osaka Medical and Pharmaceutical University, Juntendo University, Niigata Cancer Center Hospital, University of Tokyo, Ehime University, Keio University, Shinshu University, National Hospital Organization Kyushu Cancer Center, Kagoshima City Hospital, Niigata University, Hokkaido University, Kyushu University, Jikei University, University of the Ryukyus, Tohoku University, Chiba University, Kurume University, Aichi Cancer Center Hospital, National Hospital Organization Shikoku Cancer Center, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, Osaka City University, Kitasato University, Saga University, Gunma Prefectural Cancer Center, National Defense Medical College, Tottori University, Sapporo Medical University, Kanagawa Cancer Center, Saitama Cancer Center, National Cancer Center Hospital. Authors’ contribution: All authors contributed to the study's conception and design. Material preparation, data collection and analysis were performed by Akira Kikuchi, Hiroshi Yoshida, Hitoshi Tsuda, Atsuhiko Sakamoto, Masaharu Fukunaga, Tsunehisa Kaku, Masayuki Yoshida and Nobuo Yaegashi. The first draft of the manuscript was written by Hiroshi Yoshida, Akira Kikuchi, and Hitoshi Tsuda, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Data, material and/or code availability. The datasets generated during and/or analyzed during the current study are not publicly available due to ongoing another study based on the data but are available from the corresponding author on reasonable request.
Funding Information:
Funding/Supports: This work was supported by the National Cancer Center Research and Development Fund of Japan ( 23-A-17 , 26-A-4 , 29-A-3 , and 2020-J-3 ).
Publisher Copyright:
© 2022
PY - 2022/6
Y1 - 2022/6
N2 - 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.
AB - 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.
KW - Endometrial stromal sarcoma
KW - Fluorescence in situ hybridization
KW - Immunohistochemistry
KW - Pathological diagnosis
KW - Real-time PCR
KW - Uterine sarcoma
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U2 - 10.1016/j.humpath.2022.03.007
DO - 10.1016/j.humpath.2022.03.007
M3 - Article
C2 - 35339567
AN - SCOPUS:85128474509
SN - 0046-8177
VL - 124
SP - 24
EP - 35
JO - Human Pathology
JF - Human Pathology
ER -