Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Abstract excerpt

Immunohistochemistry for mismatch repair (MMR) proteins is important for evaluating the molecular background of MMR-deficient tumors, including those with Lynch syndrome (LS). The four major MMR proteins function as heterodimers (MLH1/PMS2 and MSH2/MSH6), and usually only one of the MMR subsystems is impaired. However, rare cases of concurrent immunohistochemical loss of all four MMR proteins, termed "null"...

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