New study investigates germline and somatic alterations in renal medullary carcinoma

A new study performed linked-read genome sequencing of a cohort of adolescents and young adults diagnosed with RMC (n=15 patients) who enrolled on the Children’s Oncology Group (COG) Renal Tumor Biology and Risk Classification protocol to evaluate haplotype-resolved germline and somatic alterations in RMC.

Other than the presence of sickle cell trait, the authors did not identify any additional germline alterations associated with RMC risk. The majority of patients with RMC (14/15 patients) were carriers of the sickle cell trait without a cooperating hemoglobinopathy. No founder population was identified with the results suggesting that the RMC risk allele arises from diverse ancestries.