Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs.

J. F. Emile; S. Brahimi; J. M. Coindre; P. P. Bringuier; G. Monges; P. Samb; L. Doucet; I. Hostein; B. Landi; M. P. Buisine; A. Neuville; O. Bouché; P. Cervera; J. L. Pretet; J. Tisserand; A. Gauthier; A. Le Cesne; J. C. Sabourin; J. Y. Scoazec; S. Bonvalot; C. L. Corless; M. C. Heinrich; J. Y. Blay; P. Aegerter

HAL: hal-00636301, version 1

PubMed: 21953054

DOI: 10.1007/s12032-011-0074-y

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Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs.
Emile J.F., Brahimi S., Coindre J.M., Bringuier P.P., Monges G., Samb P., Doucet L., Hostein I., Landi B., Buisine M.P. et al
Medical Oncology (2011) epub ahead of print - http://hal.archives-ouvertes.fr/hal-00636301

Publication type:

Article in peer-reviewed journal

Subject:

Life Sciences/Cancer

Title:

Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs.

Author(s):

J. F. Emile (

) ¹, S. Brahimi, J. M. Coindre, P. P. Bringuier, G. Monges, P. Samb, L. Doucet, I. Hostein, B. Landi, M. P. Buisine, A. Neuville, O. Bouché, P. Cervera, J. L. Pretet ², J. Tisserand, A. Gauthier ³, A. Le Cesne, J. C. Sabourin, J. Y. Scoazec, S. Bonvalot ⁴, C. L. Corless, M. C. Heinrich, J. Y. Blay, P. Aegerter

Laboratory:

1:	Laboratoire épidémiologie et oncogénèse des tumeurs digestives

	Université de Versailles Saint-Quentin-en-Yvelines : EA4340

	France

2:	Carcinogénèse épithéliale : facteurs prédictifs et pronostiques (CEF2P)

	Université de Franche-Comté : EA3181 – CHU Besançon – IFR133

	Les hauts de chazal - bât. Recherche - rue Ambroise Paré - 25000 BESANCON

	France

3:	Processus et bilan des domaines sédimentaires (PBDS)

	http://www.univ-lille1.fr/geosciences/page_ufr/cnrs_1/umr_pbds.ht

	CNRS : UMR8110 – INSU – Université Lille I - Sciences et technologies

	Bâtiment SN5 59655 VILLENEUVE D ASCQ CEDEX

	France

4:	Géosciences Environnement Toulouse (GET)

	http://wwwget.obs-mip.fr/

	CNRS : UMR5563 – Institut de recherche pour le développement [IRD] : UMR239 – Université Paul Sabatier [UPS] - Toulouse III – Observatoire Midi-Pyrénées

	Observatoire Midi-Pyrénées 14 Avenue Edouard Belin 31400 Toulouse

	France

Abstract:

Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma. Most of the data available on GISTs derive from retrospective studies of patients referred to oncology centers. The MolecGIST study sought to determine and correlate clinicopathological and molecular characteristics of GISTs. Tumor samples and clinical records were prospectively obtained and reviewed for patients diagnosed in France during a 24-month period. Five hundred and ninety-six patients were included, of whom 10% had synchronous metastases. GISTs originated from the stomach, small bowel or other site in 56.4, 30.2 and 13.4% of cases, respectively. The main prognostic markers, tumor localization, size and mitotic index were not independent variables (P < 0.0001). Mutational status was determined in 492 (83%) patients, and 138 different mutations were identified. KIT and PDGFRA mutations were detected in 348 (71%) and 74 (15%) patients, respectively, contrasting with 82.8 and 2.1% in patients with advanced GIST (MetaGIST) (P < 0.0001). Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively). These data suggest that KIT and PDGFRA mutations and standardized mitotic count deserve to be investigated to evaluate the relapse risk of GISTs.

Fulltext language:

English

Journal:

Medical Oncology
Publisher	Springer-Verlag;Humana Press
ISSN	0736-0118 (eISSN : 1357-0560)

Audience:

international

Publication date:

2011-09-28

Submission date:

2011-09-28

Page, identifiant, ...:

epub ahead of print


hal-00636301, version 1
http://hal.archives-ouvertes.fr/hal-00636301
oai:hal.archives-ouvertes.fr:hal-00636301
From: Pascale Viala <>
Submitted on: Thursday, 27 October 2011 11:24:30
Updated on: Thursday, 27 October 2011 11:24:30