Genomic features of uterine fibroids reveal surprises

12 June 2013

A small scale study of uterine fibroids has found genomic features more commonly seen in aggressive cancers.

Fibroid muscle tumours in the uterus (uterine leiomyomas, generally referred to as uterine fibroids) are extremely common in women and are typically benign, though they can have other adverse effects on health. New research published in the New England Journal of Medicine reports whole genome sequencing and gene expression profiling of 38 fibroids and normal uterine tissue from 30 women.
They found that certain specific genetic variants and complex chromosomal rearrangements (particularly on chromosome 7) were a common feature of fibroid tumours from different women. The rearrangements were of a recently discovered type dubbed chromothripsis or ‘chromosome shattering’, multiple chromosomal breaks and reassembly, which is seen in a small proportion of many forms of cancer and has been associated with more aggressive forms of the disease.  
The researchers concluded that the chromosome chattering was likely to be involved in the formation and potential progression towards malignancy of uterine fibroid tumours, but may have a less oncogenic effect than previously thought since it was observed in several benign tumours. Certain other key mutations were observed to be common, notably MED12 and FH genes. It was further noted that molecular analysis and classification of uterine fibroids was essential to develop properly targeted new therapies.
Comment: It is increasingly clear that a personalised approach to cancer medicine is essential in order to accurately classify the nature of a given tumour on genetic grounds and thereby select existing (or in many cases develop new) therapeutics that can target specific genetically determined features of tumours. Improvements in care for fibroids are also highly desirable, since they affect a large proportion of women to some extent and can cause pain, excessive bleeding, infertility and other reproductive problems and complications.

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