Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.

Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2, 3, 7, 11, 13, 14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.

[S+G2M phase fraction and index of DNA in the aneuploid laryngeal cancer]. / Wspólczynnik proliferacji komórek i wartosc indeksu DNA w aneuploidalnych rakach plaskonablonkowych krtani.

Abnormal cellular DNA content, a hallmark of malignancy, is known to be an important prognostic factor in many human solid tumors. The purpose of the following research was to analyze the prognostic value of DNA index in aneuploid squamous cell carcinoma of the larynx and relations between S+G2M phase fraction and clinical as well as histological features of the tumor. Eighty-six patients with squamous cell carcinoma of the larynx treated in years 1997-2002 in the ENT Department of the University Hospital in Wroclaw were subject of our study. Flow cytometric DNA ploidy, S-phase fraction and index DNA measurements were performed on fresh frozen tumor tissues. Results were compared to histological grading and TNM category. We have shown, there is a positive correlation between the histopathological diagnosis and DNA ploidy, between DNA ploidy and S+G2M phase fraction and between the tumor size and S+G2M phase fraction. We noticed a positive correlation between the DNA index of the tumor and presence of the nodal metastases, there was also correlation between the DNA index of the tumor and S+G2M phase fraction.