In:
Histopathology, Wiley, Vol. 67, No. 1 ( 2015-07), p. 121-129
Abstract:
Malignant rhabdoid tumours ( MRT s) are highly aggressive malignancies of early infancy characterized by inactivation of SMARCB 1, a core member of the SWI / SNF chromatin‐remodelling complex. The aim of this study was to explore the status of multiple key subunits of the SWI / SNF complex in MRT s. Methods and results We screened the key subunits of the SWI / SNF complex, including SMARCB 1, SMARCA 2, PBRM 1, SMARCA 4, and ARID 1A, in four MRT s by immunohistochemistry, sequencing, and fluorescence in‐situ hybridization ( FISH ). Complete loss of SMARCB 1, SMARCA 2 and PBRM 1 expression and corresponding mutations in the same genes were observed in all cases. The mutations included seven missense, three same‐sense, four frameshift and two truncating mutations. FISH revealed heterozygous deletion of SMARCB 1 in one case, and monoploidy of chromosome 22, which harbours SMARCB 1 , in another case. Furthermore, trisomy of chromosome 9, which harbours SMARCA 2 , was observed in two cases. Abnormality of PBRM 1 was not found in any case. Conclusions We report, for the first time, co‐inactivation and frequent mutations of SMARCB 1 , SMARCA 2 and PBRM 1 in MRT s. Multiple subunit abnormalities of the SWI / SNF complex potentially act together to contribute to the tumorigenesis of MRT s, which provides unique insights into this disease.
Type of Medium:
Online Resource
ISSN:
0309-0167
,
1365-2559
DOI:
10.1111/his.2015.67.issue-1
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2006447-0
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