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<p>Primary carcinosarcomas are a rare type of cervical tumors. A 75-year-old female patient diagnosed with stage IB2 cervical carcinosarcoma (CCS) was treated with radical surgery followed by adjuvant chemoradiotherapy. She survived without recurrence for 3&#xa0;years after the surgery. Double somatic mutations of the <i>ATM</i> (c.802C &gt; T [p.Glu268*], variant allele frequency [VAF] of 48.5%, and c.7181C &gt; T [p.Ser2394Leu], VAF of 45.1%) and <i>NF2</i> (c.1021C &gt; T [p.Arg341*], VAF of 2.4%) genes were detected in the CCS via next-generation sequencing analyses. Retrospective studies using large databases should be performed to establish a consensus regarding the use of combination therapies in elderly patients with primary CCS. To the best of our knowledge, this report first revealed the presence of <i>ATM</i> mutations in a patient with primary CCS. Previous studies and the current data showed therapeutic possibilities for the subsets of gynecologic carcinosarcoma and provided information on the molecular mechanism of its development.</p>

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Primary carcinosarcoma of the uterine cervix with somatic mutations of the ATM and NF2 genes: a case report

  • 期刊论文

  • 发表日期：

    2025年5月24日

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  • Taichi Irie,
  • Yasushi Iida,
  • Yoshinobu Hamada,
  • Jun Matsushima,
  • Makoto Iizuka,
  • Satoshi Takakura

摘要

Primary carcinosarcomas are a rare type of cervical tumors. A 75-year-old female patient diagnosed with stage IB2 cervical carcinosarcoma (CCS) was treated with radical surgery followed by adjuvant chemoradiotherapy. She survived without recurrence for 3 years after the surgery. Double somatic mutations of the ATM (c.802C > T [p.Glu268*], variant allele frequency [VAF] of 48.5%, and c.7181C > T [p.Ser2394Leu], VAF of 45.1%) and NF2 (c.1021C > T [p.Arg341*], VAF of 2.4%) genes were detected in the CCS via next-generation sequencing analyses. Retrospective studies using large databases should be performed to establish a consensus regarding the use of combination therapies in elderly patients with primary CCS. To the best of our knowledge, this report first revealed the presence of ATM mutations in a patient with primary CCS. Previous studies and the current data showed therapeutic possibilities for the subsets of gynecologic carcinosarcoma and provided information on the molecular mechanism of its development.