Author/Editor		Volavšek, Metka; Glavač, Damjan; Gale, Nina
Title		Chromosome 3p alterations in squamous cell carcinoma of the larynx and hypopharynx
Translated title		Spremembe kromosoma 3p pri ploščatoceličnem karcinomu grla in spodnjega žrela
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 159-65
Language		eng
Abstract		Loss of heterozygosity (LOH) on 3p chromosome, frequently found in squamous cell carcinoma of larynx and hypopharynx (LHSCC), is considered an early step of carcinogenesis. 3p contains several tumor supressor genes among them Rassf1A, VHL and FHIT gene. To determine whether changes in these genes contribute to frequent LDH on 3p, LOH analysis was performed with 5 microsatellite markers on DNA isolated from 77 LHSCC's and adjacent tissue. Additionally, presence of mutations in Rassf1A and VHL genes was tested. Mostly male patients had usually a laryngeal. moderately differentiated cancer. LOH at 3p was detected in 47 (61 %) cases. There were 2 different missense changes in Rassf1A in 16 cases and no pathogenic VHL mutations. The only significant correlation appeared between Rassf1A alterations and LOH by individual markers (p=0,0060,020). Our results confirm LOH at 3p as a frequent event in LHSCC. Due to absence of mutations, participation of VHL changes to overall LOH can be excluded. Nevertheless. although delineation of shares of Rassf1A and FHIT alterations is impossible, our results suggest that Rassf1A and FHIT gene changes contribute significantly to LOH at 3p and are possibly involved in the early steps of LHSCC carcinogenesis.
Descriptors		LARYNGEAL NEOPLASMS PHARYNGEAL NEOPLASMS CARCINOMA, SQUAMOUS CELL MICROSATELLITE REPEATS