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Case Reports: Rare disease
Whole exon capture sequencing for identifying mutations associated with pulmonary benign metastasising leiomyoma
  1. Zhijun Hu,
  2. Kaijiang Liu,
  3. Qing Liu and
  4. Hong Zhu
  1. Department of Gynecologic Oncology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, China
  1. Correspondence to Dr Kaijiang Liu; liukaijiang{at}263.net

Abstract

A woman in her early 20s presented with cough and fever. She had undergone an abdominal myomectomy 3 years ago for uterine leiomyoma. Chest CT and positron emission tomography-CT revealed multiple round nodules in both lungs, suggesting metastatic lesions. A CT-guided lung biopsy was performed, and the tumour was diagnosed as pulmonary benign metastasising leiomyoma (PBML) based on pathological analyses. Whole exon capture sequencing of uterine leiomyoma and PBML sections revealed that 13 genes (MCM10, SLC16A9, RAG1, BAZ1A, NLRP2, TRMT61B, CPXM1, NGLY1, SUCLG2, FAM13A, CAGE1, PHTF2 and ZDHHC2) were concurrently present in the two tumours. The patient was prescribed goserelin injections every 4 weeks. The symptoms improved 2 weeks after starting the treatment. The lung nodules considerably decreased in size after three courses of goserelin treatment. The nodular size continues to decrease with the treatment.

  • Drugs: obstetrics and gynaecology
  • Carcinogenesis

https://doi.org/10.1136/bcr-2022-251072

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    Footnotes

    • Contributors Supervised by KL. The patient was treated and followed up by KL and QL. The report was written by ZH and HZ.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.