BLM and neoplasm: These neoplasms can be classified into (1) neoplasms without a preexisting disorder (due to CEBPA, DDX41 and TP53 variants), (2) neoplasm with other organ dysfunction (GATA2, telomere disease, RASopathies, Down syndrome, SAMD9, SAMD9L, biallelic germline BLM and bone marrow failure syndromes such as Fanconi anemia, Shwachman-Diamond syndrome and severe congenital neutropenia), and (3) neoplasm with a history of thrombocytopenia (RUNX1, ETV6, and ANKRD6 variants).1