Open AccessClaudin‐6 is of Limited Sensitivity and Specificity for the Diagnosis of Atypical Teratoid/Rhabdoid Tumors
Author(s) -
Antonelli Manila,
Hasselblatt Martin,
Haberler Christine,
Di Giannatale Angela,
Garrè Maria L.,
Donofrio Vittoria,
Lauriola Libero,
Ridola Vita,
Arcella Antonella,
Frühwald Michael,
Giangaspero Felice
Publication year - 2011
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.2011.00478.x
Subject(s) - immunohistochemistry , atypical teratoid rhabdoid tumor , choroid plexus , claudin , pathology , tissue microarray , smarcb1 , medulloblastoma , biology , medicine , central nervous system , epigenetics , gene , tight junction , biochemistry , chromatin remodeling , microbiology and biotechnology
Recent gene expression microarray analyses have indicated that claudin‐6 is specifically expressed in atypical teratoid rhabdoid tumors (AT/RTs), suggesting a role as a positive diagnostic marker in addition to SMARCB1 (INI1) loss, which is encountered in the majority of AT/RTs. In order to investigate the potential of claudin‐6 as a diagnostic marker, expression was investigated in 59 AT/RTs and 60 other primary central nervous system (CNS) tumors, including primitive neuroectodermal tumors, medulloblastomas, choroid plexus tumors, and both pediatric and adult low‐ and high‐grade gliomas using immunohistochemistry. Claudin‐6 was expressed in 17/59 AT/RTs (29%), but also in a variety of other primary CNS tumors, including 60% of medulloblastomas and 21% of malignant gliomas. Even though high staining scores (2+ or 3+) were more often encountered in AT/RTs (Chi‐square 4.177; P = 0.041), the overall frequency of claudin‐6 staining was not significantly higher in AT/RTs as compared with the other tumors (17/59 vs. 16/60; Chi‐square = 0.328; P = 0.567). In a subgroup of 43 AT/RT patients, of which follow‐up data were available, claudin‐6 expression did not show any correlation with survival. In conclusion, claudin‐6 immunohistochemistry is of limited sensitivity and specificity for the diagnosis of AT/RT and does not correlate with clinical behavior.