Qiao's Pathology (Art and Science in Medicine)
Qiao's Pathology: Colon Cancer with Loss of MLH-1 and PMS-2 Mismatch Repair Proteins
If MLH1 and PMS2 are absent, the patient likely has acquired methylation of the MLH1 gene promoter, a situation that causes lack of MLH1 protein expression {but does not cause Lynch syndrome (LS)}. However, LS is still possible. If the patient was diagnosed before age 50 or has at least one first-degree relative with colorectal or endometrial cancer, proceed to genetic testing of the MLH1 gene. In all other cases, consider MLH1 promoter methylation testing and/or BRAF mutation testing on the patient’s colorectal tumor (this is not informative for endometrial tumors). Jian-Hua Qiao, MD, FCAP, Los Angeles, IHC stain. Original objective magnification 20X. CA, USA.
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Qiao's Pathology: Colon Cancer with Loss of MLH-1 and PMS-2 Mismatch Repair Proteins
If MLH1 and PMS2 are absent, the patient likely has acquired methylation of the MLH1 gene promoter, a situation that causes lack of MLH1 protein expression {but does not cause Lynch syndrome (LS)}. However, LS is still possible. If the patient was diagnosed before age 50 or has at least one first-degree relative with colorectal or endometrial cancer, proceed to genetic testing of the MLH1 gene. In all other cases, consider MLH1 promoter methylation testing and/or BRAF mutation testing on the patient’s colorectal tumor (this is not informative for endometrial tumors). Jian-Hua Qiao, MD, FCAP, Los Angeles, IHC stain. Original objective magnification 20X. CA, USA.
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