Summary

An estimated 5% to 10% of individuals diagnosed with leukemia have a hereditary predisposition. Genetic testing in this population is complicated by the need for a nonhematologic DNA source when malignancy is present, for which cultured skin fibroblasts are the gold standard. This retrospective study characterizes the genetic results identified in a cohort of 126 individuals with a suspected hereditary predisposition to leukemia who received multi-gene panel testing at Blueprint Genetics. Key findings include

• In this cohort, 14% of individuals with a clinical suspicion of a hereditary predisposition to leukemia had a positive result

• Most positive results (61%) were expected to be germline findings 

• For 39% of positive results, clinical interpretation may be limited due to a possibly somatic or mosaic variant(s) identified in DNA extracted from a hematologic source in individuals with hematologic disease

Multigene panel testing for hereditary predisposition leukemia can be informative if a nonhematologic sample type is provided

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Authors:

Victoria Howell, Alicia Scocchia, Julie Hathaway, Allison Sluyters, Kimberly Gall, Elina Hirvonen, Emma Mårtensson, Anni Niskakoski, Päivi Kokkonen, Inka Saarinen, Lotta Koskinen, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvu​o