Universität zu Köln

Schaefer, Inga-Marie ORCID: 0000-0001-9710-5500, Stroebel, Philipp, Cameron, Silke, Beham, Alexander, Otto, Claudia, Schildhaus, Hans-Ulrich and Agaimy, Abbas (2014). Rhabdoid morphology in gastrointestinal stromal tumours (GISTs) is associated with PDGFRA mutations but does not imply aggressive behaviour. Histopathology, 64 (3). S. 421 - 431. HOBOKEN: WILEY-BLACKWELL. ISSN 1365-2559

Full text not available from this repository.

Abstract

AimsRhabdoid morphology resembling that of the aggressive paediatric rhabdoid tumours occurs in various malignancies usually lacking characteristic SMARCB1 (INI1) loss. Little is known about the clinicopathological and molecular characteristics of the rhabdoid phenotype in gastrointestinal stromal tumours (GISTs). Methods and resultsSix gastric rhabdoid GISTs were examined by immunohistochemistry, KIT and platelet-derived growth factor receptor- gene (PDGFRA) mutation analysis, and comparative genomic hybridization (CGH). All tumours expressed KIT, PDGFRA, DOG-1, and SMARCB1 (two of six with a mosaic pattern). Five of six tumours harboured PDGFRA mutations (D842V in four; N659K in one), and one case was wild type for KIT/PDGFRA and succinate dehydrogenase (SDH) A-negative and SDHB-negative by immunohistochemistry. CGH revealed aberrations typical of GISTs (-1p, -14, and -22q in three, five, and three cases, respectively), with a mean of 1.7 aberrations in the epithelioid component and 2.7 in the rhabdoid component. None showed progression (mean follow-up of 25months). ConclusionsRhabdoid gastric GISTs are associated with epithelioid morphology and PDGFRA mutations. They harbour CGH aberrations that are typical of ordinary GISTs in both tumour components. The presence of additional genetic alterations in the rhabdoid areas indicates evolution from the epithelioid components, and possible genetic and biological progression. On the basis of our series and previous reports, rhabdoid morphology in GISTs presumably does not imply aggressiveness.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schaefer, Inga-Marie UNSPECIFIED orcid.org/0000-0001-9710-5500 UNSPECIFIED Stroebel, Philipp UNSPECIFIED UNSPECIFIED UNSPECIFIED Cameron, Silke UNSPECIFIED UNSPECIFIED UNSPECIFIED Beham, Alexander UNSPECIFIED UNSPECIFIED UNSPECIFIED Otto, Claudia UNSPECIFIED UNSPECIFIED UNSPECIFIED Schildhaus, Hans-Ulrich UNSPECIFIED UNSPECIFIED UNSPECIFIED Agaimy, Abbas UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-447187
DOI:	10.1111/his.12265
Journal or Publication Title:	Histopathology
Volume:	64
Number:	3
Page Range:	S. 421 - 431
Date:	2014
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1365-2559
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SUCCINATE-DEHYDROGENASE SUBUNIT; GASTRIC TUMORS; PHENOTYPE; SPECTRUM; FEATURES; SITE; PROGRESSION; EXPRESSION; PROGNOSIS; PATHOLOGY Multiple languages Cell Biology; Pathology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44718