Genetic test that detects childhood cancer

Researchers from the Bellvitge Institute for Biomedical Research (Idibell), the Catalan Institute of Oncology (ICO) and the Network Centre for Biomedical Research on Cancer (Ciberonc) developed a genetic test which promises to improve diagnostics constitutional incongruity restoration deficiency syndrome (KMMRD) This syndrome, although a minority occurrence, is extremely aggressive and penetrating, affecting 90% of child carriers with tumor development before age 20.

CMMRD is caused by inherited mutations in genes responsible for repairing DNA mismatches. Detection of this syndrome is complicated by the presence of multiple pseudogenes and variants of unknown significance that complicates genetic diagnosisMoreover, its clinical manifestations are varied and often coincide with other syndromes, which further complicates its detection.

To address these issues, a research team led by Gabriel Capella and Marta Pineda created and validated hs-MSI genetic test. The method analyzes accumulated errors in 192 repetitive regions of the genome known as microsatellites to determine whether a patient has CMMRD. Using a blood sample, it can detect microsatellite errors with high sensitivity in all types of tumors caused by the syndrome, outperforming traditional methods, which had a sensitivity of 18%.

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The study that confirmed its effectiveness was published in the journal Clinical Chemistry and confirms the high efficiency of the test. “The test is expected to be implemented in ICO Molecular Diagnostics Department and accessible to health professionals,” points out Fatima Martin, the first signatory of the article. In addition, the doctor mentions that a national study has been launched in which this test is applied to all children with certain types of childhood cancer, with the aim of improving the detection of CMMRD and offering more effective treatments, as well as providing better genetic counseling to affected families.

The development and validation of the test were made possible by funding from the La Marató de TV3 Foundation, provided through the 2019 call for proposals for minority diseases. The introduction of this genetic test into clinical practice will not only improve the early diagnosis of CMMRD, but will also allow identify patients as candidates for treatment immunotherapy, improving its clinical prognosis.