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

Table 1 Characteristics of sarcoma patients with MTS

Study	Age (years)	Sex	Tumor site	Tumor histology	Other malignancies	MMR loss (IHC)	MSI	MMR germline variant
Lee et al. [10]	58	M	Retroperitoneum	Undifferentiated pleomorphic sarcoma	Colon, Sebaceous neoplasm	MSH2	MSI-H	MSH2 (not specified)
Yozu et al. [5]	74	M	Buttock	Pleomorphic liposarcoma	Colon, Sebaceous neoplasm, Prostate	MSH2/MSH6	NA	MSH2 (not specified)
Latham et al. [9]	71	NA	NA	Soft tissue sarcoma	Colon, Endometrial, Sebaceous adenoma	MSH2/MSH6	MSI-H	MSH2 (c.1216 C > T, p.Arg406Ter)
de Angelis de Carvalho et al. [11]	40	F	NA	Osteosarcoma	Sebaceoma	MSH2/MSH6	MSI-H	MSH2 (c.1661 + 1G > A, p.Gly504Alafs*3)
de Angelis de Carvalho et al. [11]	51	M	NA	Soft tissue sarcoma	Colon, Sebaceoma	MSH2/MSH6	NA	MSH2 (c.1444 A > T, p.Arg482Ter)
Present case	73	M	Abdominal wall	Myxofibrosarcoma	Colon, Duodenal, Pancreas, sebaceous epithelioma	MLH1/PMS2	MSI-H	MLH1 (c.1233_1254dup22, p.Ile412CysfsTer5)

MMR mismatch repair, IHC immunohistochemistry, MSI microsatellite instability, MSI-H high-frequency microsatellite instability, NA not available

ISSN: 1897-4287