ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution

Abstract

Chronic lymphocytic leukemia (CLL) is a disease commonly diagnosed in the elderly with a median age of ~70 years. However, CLL can also be detected in adolescent and young adults (AYA). According to different studies, 0.85-3.7% of patients with CLL are diagnosed in AYA and 3% of these patients had a first-degree relative with CLL. Families with multiple individuals affected with CLL and other related B-cell tumors have been described with contradictory findings regarding their potential early age at diagnosis. Despite these observations, our knowledge about the molecular profile and predisposing factors in AYA CLL is scarce.