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The value of GLI1 and p16 immunohistochemistry in the premolecular screening for GLI1-altered mesenchymal neoplasms

I. Machado, A. Agaimy, F. Giner, S. Navarro, M. Michal, J. Bridge, R. Claramunt, JA. López-Guerrero, J. Alcacer, K. Linos, A. Llombart-Bosch

. 2024 ; 484 (5) : 765-775. [pub] 20231108

Language English Country Germany

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc24014209
E-resources Online Full text

NLK ProQuest Central from 2003-01-01 to 1 year ago
Medline Complete (EBSCOhost) from 2011-01-01 to 1 year ago
Nursing & Allied Health Database (ProQuest) from 2003-01-01 to 1 year ago
Health & Medicine (ProQuest) from 2003-01-01 to 1 year ago

Links

PubMed 37940743
DOI 10.1007/s00428-023-03687-3
Knihovny.cz E-resources

Mesenchymal neoplasms with GLI1 alterations have recently been reported in several anatomic locations. Their morphology and immunohistochemistry (IHC) are nonspecific, making their recognition a true challenge. To assess the diagnostic value of GLI1 and p16 IHC for identifying GLI1-altered neoplasms, we evaluated 12 such neoplasms (6 GLI1-amplified and 6 with GLI1-fusions) using the GLI1 IHC. Additionally, we evaluated some of their morphological and molecular mimickers, including glomangiomas, Ewing sarcomas (ES), myxoid liposarcomas, and MDM2/CDK4-amplified sarcomas (well-differentiated liposarcoma/WDLPS, dedifferentiated liposarcoma/DDLPS, and intimal sarcoma). All successfully tested GLI1-altered tumors (11/11) demonstrated at least moderate/strong nuclear and/or cytoplasmic GLI1 IHC positivity. GLI1-amplified tumors exhibited a moderate/strong predominantly nuclear staining, compared to a moderate, patchy, and predominantly cytoplasmic GLI1 positivity in GLI1-fusion tumors. Among their mimics, GLI1 immunoreactivity, either cytoplasmic or nuclear, was observed in intimal sarcoma (3/3) and WDLPS/DDLPS (22/25). GLI1 IHC demonstrated 92% sensitivity and 90.8% specificity in diagnosing GLI1-altered neoplasms. Strong/moderate nuclear/cytoplasmic p16 immunoexpression was noted in all GLI1-amplified tumors compared to none of fused cases. Overall, the GLI1/p16 combination demonstrated a sensitivity and specificity of 100% and 93% for GLI1-amplified tumors. In conclusion, we confirm that GLI1 IHC represents a good, quick, and cheap helpful screening tool. The inclusion of p16 may aid in pre-screening for potential GLI1-amplified neoplasms and provide insights on which tumors warrant further molecular testing.

References provided by Crossref.org

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