January 2019 — Laboratory Genetics and Genomics

By MCL Education • January 8, 2019

Share this:

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 Mayo Clinic
	Linda Hasadsri, M.D., Ph.D. Consultant, Lab Genetics/Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine

MCL Education

This post was developed by our Education and Technical Publications Team.