Anatomic Pathology Board

Saudi Board Final Written Examination - Anatomic Pathology (SCFHS)

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Practice session

A 52-year-old woman undergoes a right hemicolectomy for a cecal adenocarcinoma. Immunohistochemistry for DNA mismatch repair (MMR) proteins demonstrates intact nuclear expression of MSH2 and MSH6 in the neoplastic cells, but complete loss of nuclear expression of MLH1 and PMS2. Internal positive controls (stromal cells and infiltrating lymphocytes) show strong nuclear staining for all four proteins. Which of the following is the most appropriate next molecular diagnostic step to distinguish a sporadic neoplasm from Lynch syndrome?

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