Genomic studies of Hodgkin lymphoma using circulating cell-free DNA

The revolutionary finding of cell free DNA (cfDNA) circulating in the bloodstream had a huge impact on development non-invasive prenatal testing (NIPT) (obstetrics) and liquid biopsies (oncology). latter, combined with sequencing tumor DNA-containing cfDNA, have been widely applied cancer research, demonstrating potential these techniques to improve prognostication guide individualized treatment strategies. During routine NIPT analysis more than 88,000 pregnant women performed our institution, 14 abnormal genomic profiles suggestive maternal identified. Interestingly, one patient was further diagnosed classic Hodgkin lymphoma (cHL), characterized by low content (< 2%) neoplastic cells mass. To examine whether cfDNA can be informative about imbalances Hodgkin/Reed-Sternberg (HRS) cells, we pilot study nine prospective cHL cases. This showed that correspond HRS cells. get insights into genome cHL, large from 177 patients subsequently established. Based ultra-low pass this cohort, built comprehensive catalog abnormalities, as well their frequencies patterns. Besides known recurrent imbalances, such gain/amplification 2p16/ REL-BCL11A 9p24/ JAK2-CD274-PDCDLG2 , novel abnormalities were identified cHL. Altogether, provided evidence is consistent shown profiling tool diagnosis follow up patients.