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The genetic causes of a group of related infant cancers have been discovered by scientists at the Wellcome Sanger Institute, the University of Wuerzburg and their collaborators. Whole genome sequencing of tumours revealed mutations which are targetable by existing drugs used to treat lung cancer and melanoma.

The results, published today (18 June) in Nature Communications have implications for clinical practice and the diagnosis of rare cancers in infants, and could lead to new, targeted treatment options for these children.

Each year in the UK, over 100 infants under the age of one are diagnosed with rare cancerous tumours in their soft tissues. One of these soft tissue cancers, known as congenital mesoblastic nephroma (CMN), is the most common kidney tumour diagnosed in early infancy. Occasionally spotted as a lump in utero during an ultrasound scan, these tumours are diagnosed definitively after birth. Treatment involves surgical removal of the tumour and sometimes chemotherapy, both of which can damage surrounding tissues at a critical time in life.

The genetic causes underlying these infant cancers are unclear, with over 30 per cent of cases of CMN having no known genetic changes driving the cancer.

In a new study using samples from

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