RESULTS and METHODS
The Registry was initially created in 1993; since then, enrollment has
been prospective. Full description of Registry methods is available
elsewhere.2 The common definition of SDS was
applied,10 and all patients reported carried a
molecularly confirmed SBDS mutation. The cutoff date was 31 May
2020. Cancers were classified according to the World Health Organization
classification during a centralized review of the tumor samples (JFE)
subjected to NGS analysis somatic study. Among the 155 patients included
in this study [median follow-up: 16.4 years (2742 person-years)],
three developed solid tumors during their monitoring. The cancer rate
was 0% by the age of 40 years but increased dramatically during the
5th decade (Figure 1). Their clinical histories are
described. They were all followed according to published
guidelines10 and none have presented, prior cancer
diagnosis a myelodysplasia, and none have received GCSF prior cancer
diagnosis.