Molecular analysis of the HuD gene in neuroendocrine lung cancers.
n-ELAV (neuronal-Embryonic Lethal, Abnormal Vision)-like genes belong to a family codifying for onconeural RNA-binding proteins, also called Hu antigens. Anti-Hu-antibodies (anti-Hu-Ab) are typically associated with paraneoplastic encephalomyelitis/sensory neuropathy (PEM/PSN), and low titres of anti-Hu-Ab were found in neural/neuroendocrine neoplasms, especially small cell lung cancer (SCLC). To date, few studies have been published focused on the genetic causes of their involvement in the pathogenesis of neuroendocrine tumors (NE). Here we analyzed 20 primary human neuroendocrine lung tumor tissues for somatic mutations in the HuD gene. Two inactivating mutations (a frameshift and a stop codon mutation) and 11 nucleotide changes were detected in the coding sequence of HuD gene in 7 different lung tumors. Our results on SCLC and carcinoid tissues support the hypothesis that alterations of nELAV genes could be involved in the onset and/or progression of a subset of neuroendocrine lung tumors.
D'Alessandro
Vito
V
Department of Internal Medicine, IRCCS "Casa Sollievo della Sofferenza" Hospital, 71013 San Giovanni Rotondo (FG), Italy. v.dalessandro@operapadrepio.it
Muscarella
Lucia Anna
LA
la Torre
Annamaria
A
Bisceglia
Michele
M
Parrella
Paola
P
Scaramuzzi
Gerardo
G
Storlazzi
Clelia Tiziana
CT
Trombetta
Domenico
D
Kok
Klaas
K
De Cata
Angelo
A
Sperandeo
Marco
M
Zelante
Leopoldo
L
Carella
Massimo
M
Vendemiale
Gianluigi
G
D000595:Amino Acid Sequence; D018278:Carcinoma, Neuroendocrine / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D051959:ELAV Proteins / Q000235:genetics*; D000067779:ELAV-Like Protein 4; D006801:Humans; D019656:Loss of Heterozygosity; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D055752:Small Cell Lung Carcinoma / Q000235:genetics* / Q000473:pathology
D051959:ELAV Proteins; D000067779:ELAV-Like Protein 4; C498010:ELAVL4 protein, human