Table 3.

Recommended clinical assessments for patients with germ line genetic predisposition to hematologic malignancies

After initial diagnosis of inherited predispositionAt clinical follow-up
Consider expert consultation or referral to specialized center √ Continued consultation as needed 
Genetic counseling with certified genetic counselor trained in inherited hematopoietic malignancies √ As needed 
Update personal/family history √ √ 
Physical examination √ √ 
CBC with white blood cell differential and microscopy review for dysplasias √ √ 
Bone marrow biopsy with cytogenetic/FISH and molecular analysis √ Consider annually or when abnormalities develop on CBC 
HLA typing and referral to allogeneic stem cell transplant center If significant dysplasia or other indications of malignancy exist at baseline Increasing dysplasia or other indications of malignancy 
After initial diagnosis of inherited predispositionAt clinical follow-up
Consider expert consultation or referral to specialized center √ Continued consultation as needed 
Genetic counseling with certified genetic counselor trained in inherited hematopoietic malignancies √ As needed 
Update personal/family history √ √ 
Physical examination √ √ 
CBC with white blood cell differential and microscopy review for dysplasias √ √ 
Bone marrow biopsy with cytogenetic/FISH and molecular analysis √ Consider annually or when abnormalities develop on CBC 
HLA typing and referral to allogeneic stem cell transplant center If significant dysplasia or other indications of malignancy exist at baseline Increasing dysplasia or other indications of malignancy 

CBC, complete blood count; FISH, fluorescence in situ hybridization.

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