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Updated: Mar 6, 2026
05:58
Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
41.6K
[Muir-Torre syndrome and Turcot syndrome]
C Velter1, P Caussade2, J-P Fricker3
1Clinique dermatologique, hôpitaux universitaires de Strasbourg, université de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
Annales De Dermatologie Et De Venereologie
|March 4, 2017
Summary
Lynch syndrome (LS) variants, Muir-Torre syndrome (MTS), and Turcot syndrome (TS), may occur within the same family. This case highlights the potential need for broader cancer screening in LS families.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Lynch syndrome (LS) is an inherited cancer predisposition syndrome.
- LS involves mutations in DNA repair genes, increasing risks for colorectal and other cancers.
- Phenotypic variants include Muir-Torre syndrome (MTS) with sebaceous tumors and Turcot syndrome (TS) with CNS tumors.
Observation:
- A 59-year-old man with early-onset colon cancer (age 36) presented with a sebaceous tumor.
- Immunohistochemistry showed loss of MSH2/MSH6 expression, indicating MTS.
- His son died of glioblastoma years earlier, suggesting possible TS in the son.
Findings:
- The patient's presentation suggests a potential co-occurrence of MTS and TS within the same family.
- Loss of MSH2 and MSH6 expression is linked to both MTS and TS phenotypes.
Implications:
- This case suggests that multiple Lynch syndrome variants can manifest within a single family.
- It raises questions about current screening recommendations for MTS patients and their relatives.
- Consideration for screening of CNS tumors in families with MTS may be warranted.
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