Practical considerations in selecting a tissue source for germline genetic testing in individuals with a suspected familial acute leukemia and myelodysplastic syndrome

Tissue source	Major advantage	Major disadvantage	Cost	Time required to obtain sample	Tumor contamination	Interpretation of genetic testing results	Additional comments
Skin fibroblasts	Gold standard for source of germline DNA	Requires specialized expertise	$$$	Three to four weeks	None	Germline	Fibroblasts are cultured from skin in a clinical laboratory Can be obtained easily at the site of a bone marrow biopsy Required if patient had prior allogeneic stem cell transplant
Skin			$$	Immediate	+	Germline or tumor*	DNA is made directly from skin biopsy
Saliva	Readily available, inexpensive	Potential tumor contamination	$	Immediate	+	Germline or tumor*
Buccal swab	Readily available, inexpensive	Potential tumor contamination	$	Immediate	+	Germline or tumor*
Peripheral blood	Easy to obtain	Potential tumor contamination	$	Immediate	++	Germline or tumor*
Bone marrow		Potential tumor contamination	$$$	At time of procedure	++	Germline or tumor*

* Depending on the depth of remission. It is important to note that even with a morphologic remission, the bone marrow may still contain clonal populations with gene mutations, and therefore gene mutations found when patients are in clinical remission cannot be assumed to be germline. For these reasons, we consider only skin fibroblasts to provide an unequivocal source of germline DNA.

Graphic 97501 Version 1.0

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Practical considerations in selecting a tissue source for germline genetic testing in individuals with a suspected familial acute leukemia and myelodysplastic syndrome