Loss of Y Chromosome May Provide Early Warning of Cancer in Men: Study - Video

Loss of the Y chromosome in men may create a hidden zone of genetic vulnerability in normal tissue, potentially allowing cancer to develop, according to a new study.

Published in JCI Insights, the research found that Y chromosome loss was present not only in cancer cells but also in normal-appearing tissue surrounding tumours. Researchers described this as a possible “pre-neoplastic field effect”, where seemingly healthy tissue carries changes that may make it more vulnerable to cancer.

Men typically have one X and one Y chromosome in each cell. Loss of Y, a genetic change that becomes more common with age, has previously been linked to disease risk and poorer outcomes in men with cancer.

Researchers analysed 1,000 tissue samples from 405 men, examining more than 4.3 million individual cell nuclei. They measured the ratio of X and Y chromosomes across normal, pre-cancerous and cancerous tissues from 11 major organs.

In bladder tissue removed during cancer surgery, researchers mapped Y chromosome loss across different areas. They found a gradual increase in Y loss from normal tissue through early abnormal changes and into established cancer.

Higher levels of Y chromosome loss in normal-appearing tissue were particularly observed around cancers of the colon, rectum, oesophagus, pancreas and lung.

The researchers described this pattern as a gradient, with Y chromosome loss increasing closer to a tumour. They suggested that, in the future, this pattern could potentially help doctors identify hidden cancer-related changes in biopsy samples that may not contain the tumour itself.

However, the study does not establish that Y chromosome loss directly causes cancer. It shows an association and suggests that the genetic change may be an early marker of tissue vulnerability.

Further studies are needed to determine whether detecting Y chromosome loss can improve cancer diagnosis or risk assessment.

REFERENCE: Arkadiusz Gertych, Dr. Huihui Ye, et al.; Human Y chromosome pan-organ mapping reveals progressive mosaic loss from normal to cancer; JCI Insight; DOI: 10.1172/jc.insight.201996