Clinical medicine (London, England)
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Benign metastasising leiomyomatosis (BML) is a rare disease, predominantly seen in premenopausal women. It poses a diagnostic dilemma and can be misdiagnosed as malignancy. Here we present a case of 41-year-old woman with a previous history of hysterectomy 10 years ago for multiple fibroids. ⋯ Oestrogen and progesterone receptors showed diffuse and strong nuclear staining. The patient was commenced on tamoxifen and a repeat chest X-ray in 8 weeks showed significant improvement. In women of reproductive age with previous hysterectomy and multiple lung nodules on imaging, the diagnosis of BML should be taken into consideration.
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Cancers contain a plethora of mutations, few of which are critical to maintaining a state of malignancy. With our ever-expanding understanding of the genomic complexity of cancer, potentially actionable biomarkers whose inhibition could cripple cancer growth are increasingly being elucidated. ⋯ This facilitates detection of potentially actionable mutations and fusions for individual patients and contributes to the identification of novel predictive and prognostic biomarkers in a population. Challenges in the technical aspects of biopsy and sequencing, interpretation, and development of targeted therapies against common genomic aberrations will need to be addressed for personalised medicine to become a reality for more patients with cancer.