Erschienen in:
04.07.2016 | Original Article
Alterations of p14
ARF
, p15
INK4b
, and p16
INK4a
Genes in Primary Laryngeal Squamous Cell Carcinoma
verfasst von:
Fernando López, Teresa Sampedro, José L. Llorente, Mario Hermsen, César Álvarez-Marcos
Erschienen in:
Pathology & Oncology Research
|
Ausgabe 1/2017
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Abstract
The 9p21 gene cluster, harboring growth suppressive genes p14
ARF
, p15
INK4b
, and p16
INK4a
, is one of the major aberration hotspots in head and neck cancers. We try to elucidate specific aberrations affecting this region, throughout methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Methylation of the gene was investigated by MS-MLPA in a well-characterized series of 27 laryngeal squamous cell carcinomas and 20 samples of healthy mucosa. Aberrant promoter hypermethylation was confirmed using and methylation-specific. All samples studied except 3 (11 %) presented losses at 9p21 segment. The most common finding was the small deletion (exon 1α) of the p16
INK4a
locus (44 %). Deletion of the 9p21 gene cluster was identified in 5 cases (18 %). We only found methylation in 8 samples (30 %) for p15
IK4b
-exon 1. Promoter methylation of p14
ARF
, p15
IK4b
and p16
INK4a
was not detected in any tumor sample. Methylation-specific polymerase chain reaction confirmed the results. Our data indicate that there may be a subgroup of patients in which epigenetic regulation of 9p21 segment might have little relevance. Nevertheless, MS-MLPA could not be suitable for the study of methylation at this region and further research is required.