Genetic predisposition to hematologic malignancies: management and surveillance

Abstract

As individuals with germ line predisposition to hematologic malignancies are diagnosed with increasing frequency, the need for clinical surveillance has become apparent. Unfortunately, few prospective data are available, so recommendations are based on collective experience and expert consensus. There is general agreement to advocate for expert consultation or referral of patients to centers with expertise in these syndromes, since presentations and disease progression can be subtle, and treatment strategies must be tailored. Here, we summarize and integrate expert consensus recommendations and medical management considerations for the patient newly diagnosed with a leukemia predisposition disorder. Indications to consider additional studies and referral for allogeneic stem cell transplantation are also discussed.

Figure 1.

Surveillance for predisposition to MDS/AML. A general approach to surveillance is outlined. A discussion of low-risk clones is provided in the text. HSCT, hematopoietic stem cell transplant. *Excludes baseline dysplasia typically associated with specific disorders. **See text for additional discussion. ***For some disorders, chemotherapy may be considered to treat leukemia.