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JAMA Diagnostic Test Interpretation
July 5, 2016

Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome

Author Affiliations
  • 1Division of Hematology, Oncology, and Stem Cell Transplant, Department of Medicine, Rush University Medical Center, Chicago, Illinois
  • 2Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Rush University Medical Center, Chicago, Illinois
  • 3Department of Pathology, Rush University Medical Center, Chicago, Illinois
JAMA. 2016;316(1):93-94. doi:10.1001/jama.2016.8286

A 43-year-old woman presented with abnormal vaginal bleeding. Endometrial carcinoma was found on dilation and curettage. Hysterectomy and surgical staging confirmed stage IA endometrial cancer. Family history was significant for prostate cancer in her father and paternal grandfather.

Her tumor was screened for Lynch syndrome by immunohistochemistry staining for DNA mismatch repair proteins (mutL homolog 1 [MLH1]; MutS homologs 1 and 6 [MSH1, MSH6]; PMS 1 homolog 2 [PMS2]) and microsatellite instability testing (MSI)1 (Table 1).