Primary Orbital Synovial Sarcoma Mimicking a Periocular Cyst

Autor: Vincenzo De Giorgi, Giulia Pieretti, Angelo Paolo Dei Tos, Daniela Massi, Nicola Santoro, Francesca Portelli, Greta Gorelli, Cinzia Mazzini

Publikováno v: The American Journal of dermatopathology. 41(9)

Synovial sarcoma (SS) is a high-grade soft-tissue sarcoma occurring predominantly in older children and young adults. Only approximately 7% occur in the head and neck region, with SS representing less than 0.1% of all head and neck cancers. Orbital l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b09f2b8df464b2f44c1ea00041af9f0
https://pubmed.ncbi.nlm.nih.gov/30624245

Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

Autor: V. Desmond Mandel, Giovanni Ponti, Cristel Ruini, Greta Gorelli, Giovanni Pellacani, Aldo Tomasi, Francesca Crucianelli, Antonio Percesepe, Caterina Longo

Publikováno v: Familial Cancer. 13:553-561

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-fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f34e49fa7230e55d3e235408e633a9a5
https://doi.org/10.1007/s10689-014-9733-4

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Autor: Laura Papi, Bryony A. Thompson, Margherita Berardi, Alexandra Martins, Omar Soukarieh, Rossella Tricarico, Jukka Kantelinen, Maurizio Genuardi, Daniela Turchetti, Cristina Mareni, Maria De Angioletti, Greta Gorelli, Francesca Crucianelli, Mariann Kasela, Aurélie Drouet, Amanda B. Spurdle, Lucia Staderini, Pascaline Gaildrat, Valentina Ingrosso, Minna Nyström

Publikováno v: Human Mutation
Human Mutation, Wiley, 2017, 38 (1), pp.64-77. ⟨10.1002/humu.23117⟩
Tricarico, R, Kasela, M, Mareni, C, Thompson, B A, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, Angioletti, M D, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, A B, Nyström, M, Genuardi, M & Farrington, S 2017, ' Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants ', Human Mutation, vol. 38, no. 1 . https://doi.org/10.1002/humu.23117
Human mutation 38 (2017): 64–67. doi:10.1002/humu.23117
info:cnr-pdr/source/autori:Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A; Drouet, Aurelie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B; Nystrom, Minna; Genuardi, Maurizio/titolo:Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants./doi:10.1002%2Fhumu.23117/rivista:Human mutation/anno:2017/pagina_da:64/pagina_a:67/intervallo_pagine:64–67/volume:38

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagnostic molecular testing. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed specif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44005fa939110736d4e653248279c18
http://hdl.handle.net/10807/93629