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Fig. 2 | Hereditary Cancer in Clinical Practice

Fig. 2

From: Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Fig. 2

Screening of Lynch syndrome and germline genetic testing for MMR genes of the patient. A Immunohistochemistry (IHC) of four tumors using four antibodies to mismatch repair (MMR) proteins. IHC of MSH2 with myxofibrosarcoma and cutaneous tumor was skipped in this screening step. B MSI analysis with the Promega panel. Red arrows represent abnormal microsatellite markers. C RT-PCR/direct sequencing of the MLH1 gene. The upper panel indicates the sequencing profile from the puromycin-treated total RNA sample. The middle panel shows the sequencing profile without puromycin treatment. The lower panel shows the sequencing profile of wild-type controls. D DNA sequencing analysis of the MLH1 gene of the patient (top) and the wild-type control (bottom)

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287