ECE2013 Poster Presentations Adrenal cortex (64 abstracts)
Molecular screening for personalized treatment approach in advanced adrenocortical cancer
Maria Cristina De Martino 1 , Abir Al Ghuzlan 2 , Christine Do Cao 3 , Guillaume Assié 4 , Jean-Yves Scoazec 5 , Sophie Leboulleux 1 , Sebastien Aubert 3 , Rossella Libè 4 , Cécile Nozières 5 , François Pattou 3 , Francoise Borson-Chazot 5 , Rosario Pivonello 6 , Clement Mazoyer 7 , Jerome Bertherat 4 , Martin Schlumberger 1 , Ludovic Lacroix 7 & Eric Baudin 1
1Department of Nuclear Medicine and Endocrine Oncology, Institut Gustave Roussy, Villejuif, France; 2Department of Pathology, Institut Gustave Roussy, Villejuif, France; 3Hôpital C. Huriez, CHRU de Lille, Lille, France; 4Hôpital Cochin, Paris, France; 5Hôpital Edouard Herriot, Lyon, France; 6Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Naples, Italy; 7Translational Research Laboratory, Institut Gustave Roussy, Villejuif, France.
Propose: To screen for the presence of putative targets for new treatments in a large cohort of advanced adrenocortical cancer (ACC)
Experimental design: In 40 adult stage III-IV ACC primary samples, we used comparative genomic hybridization (CGH) and hotspot gene sequencing (with Ion Torrent) to describe the presence of copy number abnormalities and mutations in more than 40 genes involved in cancer development and putative drug sensitivity (HER2; EGFR; BRAF; KRAS; PIK3CA etc.).
Results: The most frequent copy number alteration observed was the deletion of the tumor suppressor genes CDKN2A (four cases of 28 that generate informative profiles; 14.3%) and CDKN2B (3/28 cases 10.7%) both located in the region Chr.9p21. Lower level loss of the region Chr.9p21 were also frequently observed (7/28 cases 25%). The most frequent mutations were in the genes of TP53, ATM and CTNNB1 (6, 5, and 4 cases 15, 12.5, and 10%). Amplifications of FGFR1, FGF9, and FRS2 have been seen in three different subjects 7.5%. Other abnormalities were detected in single patients (BRCA1, PSME3; RPTOR; MYC; ABL1; PTK2; FLT3, MDM2; ERBB4, SMO; STK11; and GNAS). Same recurrent association of abnormalities were: deletion of CDKN2A and ATM mutation; TP53 and CTNNB1 mutation.
Conclusions: Drugs targeting cell cycle could represent nowadays the most relevant new therapeutic approach for patients with advanced ACC. FGFs pathway could be a potential target for treatment in a subset of ACC patients, while treatment with other targeted therapies could have a rational, based on the genomic alterations, only in selected patients.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more