Syndrome de Muir-Torre et syndrome de Turcot

Major Hereditary Gastrointestinal Cancer Syndromes: a Narrative Review

“…These adenomas tend to occur at an early age and are associated with brain tumors such as glioma, medulloblastoma, and astrocytoma. Another variant known as Muir-Torre syndrome predisposes to colorectal and genitourinary cancers along with sebaceous neoplasm and keratoacanthomas [12].…”

Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders

“…On rare occasions, if keratoacanthomas are evident without sebaceous tumors, a positive personal history of multiple visceral malignancies and a family history of MTS can also be diagnostic [64]. If Turcot Syndrome-HNPCC variant is suspected with MTS, a thorough evaluation for CNS neoplasms should be conducted as there have been recent reports of concomitant diagnosis of Turcot Syndrome and MTS, as well as reports of multiple of the HNPCC variants within a single family [65][66][67]. A complete neurological exam is recommended at the time of MTS diagnosis, and in young patients with multiple cutaneous neoplasms of sebaceous differentiation, with a low threshold for workup of CNS malignancy if neurological deficits develop [56].…”

DNA mismatch repair deficiency and melanoma immunotherapy at immunohistochemical glance

“…For this reason, MSI may result in the occurrence of many tumor histotypes; being more specific, the hereditary nonpolyposis colorectal cancers (Lynch syndrome) are attributed to damaged germline variants in the tumor suppressor genes encoding for one or more DNA MMR proteins 5 . Similarly, the hereditary syndromes Muir-Torre and Turcot are associated with deficient MMR (dMMR) tumors at different location of onset (gut, brain, skin) 6 . Sporadic dMMR cancers are instead characterized by epigenetic alterations that reduce DNA MMR gene expression in most cases 6 .…”

“…Similarly, the hereditary syndromes Muir-Torre and Turcot are associated with deficient MMR (dMMR) tumors at different location of onset (gut, brain, skin) 6 . Sporadic dMMR cancers are instead characterized by epigenetic alterations that reduce DNA MMR gene expression in most cases 6 . MSI is a frequent condition in malignant melanoma, too 7 .…”