A 52-year-old male underwent whole-exome sequencing (WES) for amyotrophic lateral sclerosis (ALS). While no germline alterations relevant to his ALS were detected, multiple de novo mutations associated with hematological malignancy were unexpectedly discovered in ~20% of his sequencing reads, suggesting that these were somatic alterations. Review of the patient’s medical records revealed a persistently low white blood cell count. As a result of these incidental findings, a bone marrow biopsy was performed to assess for possible malignancy.
|Jaime Lopes, Ph.D.
Resident, Laboratory Genetics and Genomics
|Linda Hasadsri, M.D., Ph.D.
Consultant, Lab Genetics/Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine