Panel gene profiling of small bowel ...
Document type :
Compte-rendu et recension critique d'ouvrage
DOI :
Title :
Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort
Author(s) :
Aparicio, Thomas [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Svrcek, Magali [Auteur]
Cooperator Multidisciplinary Oncology Group [GERCOR]
CHU Saint-Antoine [AP-HP]
Henriques, Julie [Auteur]
Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) [RIGHT]
Afchain, Pauline [Auteur]
EPI-PHARE [EPI-PHARE]
Lièvre, Astrid [Auteur]
Oncogenesis, Stress, Signaling [OSS]
Tougeron, David [Auteur]
Centre hospitalier universitaire de Poitiers = Poitiers University Hospital [CHU de Poitiers [La Milétrie]]
Gagniere, Johan [Auteur]
Centre d'Investigation Clinique [CHU Clermont-Ferrand] [CIC 1405]
Microbes, Intestin, Inflammation et Susceptibilité de l'Hôte [M2iSH]
Terrebonne, Eric [Auteur]
Piessen, Guillaume [Auteur]
Hôpital Claude Huriez [Lille]
The French Research Group of Rectal Cancer Surgery = Groupe de Recherche en Chirurgie du Rectum [GRECCAR]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Legoux, Jean‐louis [Auteur]
Centre Hospitalier Régional d'Orléans [CHRO]
Lecaille, Cédric [Auteur]
Polyclinique Bordeaux Nord Aquitaine [PBNA]
Pocard, Marc [Auteur]
CArcinose Péritoine Paris-Technologies (ex-CART) [CAP Paris-Tech (UMR_S_1275)]
Gornet, Jean‐marc [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Zaanan, Aziz [Auteur]
Université Paris Cité [UPCité]
Hôpital Européen Georges Pompidou [APHP] [HEGP]
Cancer Research and Personalized Medicine - CARPEM [Paris] [SIRIC CARPEM]
Lavau-Denes, Sandrine [Auteur]
CHU Limoges
Lecomte, Thierry [Auteur]
Hôpital Trousseau
Deutsch, David [Auteur]
Service de Gastro-entérologie [Avicenne]
Hôpital Avicenne [AP-HP]
Vernerey, Dewi [Auteur]
Cooperator Multidisciplinary Oncology Group [GERCOR]
Service d'Oncologie Médicale [CHRU Besançon]
Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) [RIGHT]
Laurent Puig, Pierre [Auteur]
Centre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
Hôpital Européen Georges Pompidou [APHP] [HEGP]
Hopital Saint-Louis [AP-HP] [AP-HP]
Svrcek, Magali [Auteur]
Cooperator Multidisciplinary Oncology Group [GERCOR]
CHU Saint-Antoine [AP-HP]
Henriques, Julie [Auteur]
Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) [RIGHT]
Afchain, Pauline [Auteur]
EPI-PHARE [EPI-PHARE]
Lièvre, Astrid [Auteur]
Oncogenesis, Stress, Signaling [OSS]
Tougeron, David [Auteur]
Centre hospitalier universitaire de Poitiers = Poitiers University Hospital [CHU de Poitiers [La Milétrie]]
Gagniere, Johan [Auteur]
Centre d'Investigation Clinique [CHU Clermont-Ferrand] [CIC 1405]
Microbes, Intestin, Inflammation et Susceptibilité de l'Hôte [M2iSH]
Terrebonne, Eric [Auteur]
Piessen, Guillaume [Auteur]
Hôpital Claude Huriez [Lille]
The French Research Group of Rectal Cancer Surgery = Groupe de Recherche en Chirurgie du Rectum [GRECCAR]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Legoux, Jean‐louis [Auteur]
Centre Hospitalier Régional d'Orléans [CHRO]
Lecaille, Cédric [Auteur]
Polyclinique Bordeaux Nord Aquitaine [PBNA]
Pocard, Marc [Auteur]
CArcinose Péritoine Paris-Technologies (ex-CART) [CAP Paris-Tech (UMR_S_1275)]
Gornet, Jean‐marc [Auteur]
Hopital Saint-Louis [AP-HP] [AP-HP]
Zaanan, Aziz [Auteur]
Université Paris Cité [UPCité]
Hôpital Européen Georges Pompidou [APHP] [HEGP]
Cancer Research and Personalized Medicine - CARPEM [Paris] [SIRIC CARPEM]
Lavau-Denes, Sandrine [Auteur]
CHU Limoges
Lecomte, Thierry [Auteur]
Hôpital Trousseau
Deutsch, David [Auteur]
Service de Gastro-entérologie [Avicenne]
Hôpital Avicenne [AP-HP]
Vernerey, Dewi [Auteur]
Cooperator Multidisciplinary Oncology Group [GERCOR]
Service d'Oncologie Médicale [CHRU Besançon]
Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) [RIGHT]
Laurent Puig, Pierre [Auteur]
Centre de Recherche des Cordeliers [CRC (UMR_S_1138 / U1138)]
Hôpital Européen Georges Pompidou [APHP] [HEGP]
Journal title :
International Journal of Cancer
Pages :
1731-1742
Publisher :
Wiley
Publication date :
2021-01-04
ISSN :
0020-7136
HAL domain(s) :
Sciences du Vivant [q-bio]/Cancer
English abstract : [en]
Abstract Small bowel adenocarcinoma (SBA) is a rare tumour. Large genomic analyses with prognostic assessments are lacking. The NADEGE cohort has enrolled 347 patients with all stage SBA from 2009 to 2012. Next‐generation ...
Show more >Abstract Small bowel adenocarcinoma (SBA) is a rare tumour. Large genomic analyses with prognostic assessments are lacking. The NADEGE cohort has enrolled 347 patients with all stage SBA from 2009 to 2012. Next‐generation sequencing investigates the presence of 740 hotspot somatic mutations in a panel of 46 genes involved in carcinogenesis. The mismatch repair (MMR) status was assessed by immunochemistry. We have collected 196 tumour samples and 125 had conclusive results for mutation analysis. The number of mutations was 0 in 9.6% of tumours, only 1 in 32.0%, 2 in 26.4% and ≥3 in 32.0%. Overall, at least one genomic alteration was observed in 90.4% of tumour. The most frequent genomic alteration was in KRAS (44.0%), TP53 (38.4%), PIK3CA (20.0%), APC (18.4%), SMAD4 (14.4%) and ERBB2 (7.2%) genes. KRAS mutations were more frequent in synchronous metastatic tumours than in localised tumours (72.7% vs 38.2%, P = .003). There was no significant difference in the mutation rates according to primary location for the most frequently altered gene. ATM , FGFR3 and FGFR1 gene alterations were associated with Lynch syndrome and IDH1 mutations with Crohn disease. dMMR tumours were associated with younger age, localised tumours, less KRAS but more SMARCB1 mutations. No genomic alteration was associated with overall survival. There is a trend for better survival in patient with dMMR tumours. In conclusion, there is a different genomic alteration profile in SBA according to predisposing diseases. No association between genomic alterations and prognoses was observed except for a trend of better prognoses associated with dMMR.Show less >
Show more >Abstract Small bowel adenocarcinoma (SBA) is a rare tumour. Large genomic analyses with prognostic assessments are lacking. The NADEGE cohort has enrolled 347 patients with all stage SBA from 2009 to 2012. Next‐generation sequencing investigates the presence of 740 hotspot somatic mutations in a panel of 46 genes involved in carcinogenesis. The mismatch repair (MMR) status was assessed by immunochemistry. We have collected 196 tumour samples and 125 had conclusive results for mutation analysis. The number of mutations was 0 in 9.6% of tumours, only 1 in 32.0%, 2 in 26.4% and ≥3 in 32.0%. Overall, at least one genomic alteration was observed in 90.4% of tumour. The most frequent genomic alteration was in KRAS (44.0%), TP53 (38.4%), PIK3CA (20.0%), APC (18.4%), SMAD4 (14.4%) and ERBB2 (7.2%) genes. KRAS mutations were more frequent in synchronous metastatic tumours than in localised tumours (72.7% vs 38.2%, P = .003). There was no significant difference in the mutation rates according to primary location for the most frequently altered gene. ATM , FGFR3 and FGFR1 gene alterations were associated with Lynch syndrome and IDH1 mutations with Crohn disease. dMMR tumours were associated with younger age, localised tumours, less KRAS but more SMARCB1 mutations. No genomic alteration was associated with overall survival. There is a trend for better survival in patient with dMMR tumours. In conclusion, there is a different genomic alteration profile in SBA according to predisposing diseases. No association between genomic alterations and prognoses was observed except for a trend of better prognoses associated with dMMR.Show less >
Language :
Anglais
Popular science :
Non
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