ATM mutation in aggressive uterine adenosarcoma in which systemic chemotherapies had remarkable effects.

Abstract

Uterine adenosarcoma is a rare gynecologic malignancy, and 10-25% of the cases exhibit clinically aggressive behaviors. Although TP53 mutations are frequently identified in high-grade adenosarcomas of the uterus, definitive gene alterations have not been identified in uterine adenosarcomas. Specifically, no reports have described mutations in homologous recombination deficiency-related genes in uterine adenosarcomas. This study presents a case of uterine adenosarcoma without sarcomatous overgrowth but with TP53 mutation that exhibited clinically aggressive behaviors. The patient had an ATM mutation, which is a gene associated with homologous recombination deficiency, and exhibited a good response against platinum-based chemotherapy and possible therapeutic target by poly(ADP-ribose) polymerase inhibitors.

• Authors: Misaki Koyama, Ken Yamaguchi, Yoshitsugu Chigusa, Koji Yamanoi, Mana Taki, Masumi Sunada, Akihito Horie, Junzo Hamanishi, Sachiko Minamiguchi, Masaki Mandai
• Journal: International cancer conference journal (Int Cancer Conf J) Vol. 12 Issue 2 Pg. 120-125 (Apr 2023) ISSN: 2192-3183 [Electronic] Singapore
• PMID: 36896195 (Publication Type: Case Reports)
• Copyright: © The Author(s) under exclusive licence to The Japan Society of Clinical Oncology 2023, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.