The variants identified in this case, c.2707 A > G and c.1663G > A, both in heterozygous state in the TERT gene (5p15.33) are associated with autosomal dominant (AD) and autosomal recessive (AR) dyskeratosis congenita, pulmonary fibrosis and/or bone marrow failure, telomere-related (AD) and acute myeloid leukemia (somatic and AD) (OMIM: 187,270). The gene discussed is TERT; the disease is acute myeloid leukemia.