PathWays Case Study: July 25
A 34-year-old female presented to a dermatology clinic for evaluation of several facial skin lesions that were reminiscent of trichilemmomas. In addition to these lesions, there was a large skin lesion on the patient's cheek that was biopsied and interpreted as a sclerotic fibroma. The patient had an extensive history of fibrocystic breast disease, thyroid problems, ovarian cysts, and uterine polyps, with an unknown family history. PTEN genetic testing was ordered, and the results are displayed below:
Microarray results for PTEN for the patient (left), a positive control in which all of PTEN is heterozygously deleted (center), and a negative control are shown above. Each “dot” represents a probe, and the colors represent the copy state, with black representing neutral, green representing loss, and red representing gain. These results are zoomed in to specifically show the copy number state of exon 9 of PTEN. The exon is represented on the far right of the figure and is highlighted across every sample by the blue horizontal line.
Nicole Boczek, Ph.D.
Fellow, Clinical Molecular Genetics
Kevin Halling, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Sciences