Homozygous GNAS 393C-Allele Carriers with Locally Advanced Esophageal Cancer Fail to Benefit from Platinum-Based Preoperative Chemoradiotherapy.

[esophageal carcinoma]

Currently , patients with locally advanced esophageal cancer receive neoadjuvant chemoradiotherapy but only about half of these patients benefit from this treatment . GNAS T 393 C has been shown to predict the postoperative course in solid tumors and may therefore be useful for treatment stratification . The aim of the present study was to determine if the single -nucleotide polymorphism GNAS T 393 C can be used for treatment stratification in esophageal cancer patients .A total of 596 patients underwent surgical resection for esophageal carcinoma from 1996 to 2008 ; 279 patients received chemoradiotherapy prior to surgery (RTX-SURG group ). All patients and a reference group of 820 healthy White individuals were genotyped for GNAS T 393 C .The 5 -year -survival rate for the 317 patients who underwent esophagectomy as initial treatment (SURG group ) was 57 % for homozygous C-allele carriers (n = 99 ) and 43 % for T -allele carriers (n = 218 ; log- rank test p = 0 .025 ). Multivariate analysis revealed the GNAS T 393 C genotype (p = 0 .034 ), pT (p < 0 .001 ), pN (p < 0 .001 ) and age (p < 0 .001 ) as prognostic of survival . Homozygous C-allele carriers with a locally advanced tumor stage (cT 3 /T 4 , n = 129 ) in the SURG group had a 5 -year survival rate of 37 %, which , remarkably , exceeded the 5 -year survival rate of 30 % for the entire RTX-SURG group (n = 279 ). In the RTX-SURG group , the GNAS T 393 C genotype did not show any prognostic significance .Patients with a locally advanced esophageal cancer and an homozygous GNAS 393 C genotype do not benefit from platinum-based neoadjuvant chemoradiotherapy , indicating that these patients should be treated by alternative treatment strategies .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated