Fiche publication
Date publication
septembre 2026
Journal
Histology and histopathology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHENARD Marie-Pierre
,
Pr ENTZ-WERLE Natacha
,
Dr MARTIN Sophie
,
Pr NOEL Georges
,
Dr PENCREACH Erwan
,
Dr SCHOTT Roland
,
Dr LHERMITTE Benoît
,
Dr REITA Damien
Tous les auteurs :
Wolf T, Berry N, Geyer L, Weingertner N, Pencreach E, Noel G, Schott R, Todeschi J, Entz-Werlé N, Chenard MP, Martin S, Reita D, Lhermitte B
Lien Pubmed
Résumé
encodes the tumor suppressor p16 protein, inactivated in up to 50% of human cancers, most commonly through homozygous deletion (HD). HD carries major diagnostic, prognostic, and grading implications across several central nervous system (CNS) tumor types and subtypes, as well as in other solid neoplasms, including melanoma and mesothelioma. Screening for this deletion is therefore part of the pathologist's daily routine. Multiple approaches are currently available for detecting alterations. In addition to fluorescence hybridization (FISH) and comparative genomic hybridization (CGH), several other molecular techniques have emerged, each with distinct strengths and limitations, underscoring the need for integrated diagnostic strategies. Here, we review the current literature on the diagnostic, grading and prognostic significance of HD in solid tumors with a focus on CNS neoplasms. We also review the emerging evidence on the clinical impact of alternative gene inactivation mechanisms, including hemizygous deletions and point mutations, and discuss the performance and limitations of currently available diagnostic assays for their detection. We finally propose a practical diagnostic workflow for achieving a reliable alteration assessment to support patient management and therapeutic decision-making.
Référence
Histol Histopathol. 2026 09 22;:25139
