Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group

Hiroshi Yoshida, Akira Kikuchi, Hitoshi Tsuda, Atsuhiko Sakamoto, Masaharu Fukunaga, Tsunehisa Kaku, Masayuki Yoshida, Ayumi Shikama, Yuhei Kogata, Yasuhisa Terao, Michihiro Tanikawa, Toshiaki Yasuoka, Tatsuyuki Chiyoda, Tsutomu Miyamoto, Masao Okadome, Toshiaki Nakamura, Takayuki Enomoto, Yosuke Konno, Hideaki Yahata, Yukihiro HirataYoichi Aoki, Hideki Tokunaga, Hirokazu Usui, Nobuo Yaegashi

研究成果: Article査読

抄録

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.

本文言語English
ページ(範囲)24-35
ページ数12
ジャーナルHuman Pathology
124
DOI
出版ステータスPublished - 2022 6月

ASJC Scopus subject areas

  • 病理学および法医学

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