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Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients.
Fam Cancer. 2014 Dec; 13(4):553-61.FC

Abstract

Primary and secondary immunodepressive conditions are associated with an increased incidence of sebaceous tumors. Microsatellite instability (MSI) and lack of expression of mismatch repair (MMR) proteins, typical markers of Muir-Torre/Lynch heredo-familial settings, can be recognized also in immunocompromised patients. We aimed to carry on a systematic examination of clinical, immunohistochemical, biomolecular features of sebaceous tumors arising in immunocompromised and immunocompetent patients between 1986 and 2012. Microsatellite screening, immunohistochemical analysis and genetic testing were performed for hMLH1, hMSH2 and hMSH6. Methylation status of MMR genes was checked in cases with immunohistochemistry (IHC) loss of MMR proteins expression and no germline mutations. Fifteen patients had a personal history of visceral carcinomas fulfilling diagnostic criteria for Muir-Torre syndrome. In this cohort, IHC analysis, MSI status and genetic testing were in agreement, showing eight MSH2 and two MLH1 germline mutations. Five patients were immunosuppressed and their sebaceous tumors showed a lack of MSH2/MSH6 expression, although just one case with positive family history for visceral cancer harbored a germline mutation. In immunosuppressed patients, loss of IHC for MMR proteins is not necessarily secondary to MMR germline mutations. IHC false positives are probably due to epigenetic alterations. MSI and lack of expression of MMR proteins can be recognized also in immunocompromised patients without MMR germline mutations.

Authors+Show Affiliations

Department of Clinical and Diagnostic Medicine and Public Health, University Hospital of Modena and Reggio Emilia, Via del Pozzo, 41100, Modena, Italy, giovanni.ponti@unimore.it.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24969397

Citation

Ponti, G, et al. "Muir-Torre Syndrome or Phenocopy? the Value of the Immunohistochemical Expression of Mismatch Repair Proteins in Sebaceous Tumors of Immunocompromised Patients." Familial Cancer, vol. 13, no. 4, 2014, pp. 553-61.
Ponti G, Pellacani G, Ruini C, et al. Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. Fam Cancer. 2014;13(4):553-61.
Ponti, G., Pellacani, G., Ruini, C., Percesepe, A., Longo, C., Mandel, V. D., Crucianelli, F., Gorelli, G., & Tomasi, A. (2014). Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. Familial Cancer, 13(4), 553-61. https://doi.org/10.1007/s10689-014-9733-4
Ponti G, et al. Muir-Torre Syndrome or Phenocopy? the Value of the Immunohistochemical Expression of Mismatch Repair Proteins in Sebaceous Tumors of Immunocompromised Patients. Fam Cancer. 2014;13(4):553-61. PubMed PMID: 24969397.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients. AU - Ponti,G, AU - Pellacani,G, AU - Ruini,C, AU - Percesepe,A, AU - Longo,C, AU - Mandel,V Desmond, AU - Crucianelli,F, AU - Gorelli,G, AU - Tomasi,A, PY - 2014/6/28/entrez PY - 2014/6/28/pubmed PY - 2015/7/22/medline SP - 553 EP - 61 JF - Familial cancer JO - Fam Cancer VL - 13 IS - 4 N2 - Primary and secondary immunodepressive conditions are associated with an increased incidence of sebaceous tumors. Microsatellite instability (MSI) and lack of expression of mismatch repair (MMR) proteins, typical markers of Muir-Torre/Lynch heredo-familial settings, can be recognized also in immunocompromised patients. We aimed to carry on a systematic examination of clinical, immunohistochemical, biomolecular features of sebaceous tumors arising in immunocompromised and immunocompetent patients between 1986 and 2012. Microsatellite screening, immunohistochemical analysis and genetic testing were performed for hMLH1, hMSH2 and hMSH6. Methylation status of MMR genes was checked in cases with immunohistochemistry (IHC) loss of MMR proteins expression and no germline mutations. Fifteen patients had a personal history of visceral carcinomas fulfilling diagnostic criteria for Muir-Torre syndrome. In this cohort, IHC analysis, MSI status and genetic testing were in agreement, showing eight MSH2 and two MLH1 germline mutations. Five patients were immunosuppressed and their sebaceous tumors showed a lack of MSH2/MSH6 expression, although just one case with positive family history for visceral cancer harbored a germline mutation. In immunosuppressed patients, loss of IHC for MMR proteins is not necessarily secondary to MMR germline mutations. IHC false positives are probably due to epigenetic alterations. MSI and lack of expression of MMR proteins can be recognized also in immunocompromised patients without MMR germline mutations. SN - 1573-7292 UR - https://www.unboundmedicine.com/medline/citation/24969397/Muir_Torre_syndrome_or_phenocopy_The_value_of_the_immunohistochemical_expression_of_mismatch_repair_proteins_in_sebaceous_tumors_of_immunocompromised_patients_ L2 - https://doi.org/10.1007/s10689-014-9733-4 DB - PRIME DP - Unbound Medicine ER -