Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population.

Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population.

Arch Dermatol Res. 2015 Nov 21;

Authors: Lesiak A, Sobolewska-Sztychny D, Majak P, Sobjanek M, Wodz K, Sygut KP, Majsterek I, Wozniacka A, Narbutt J

Abstract
In recent decades, increases have been observed in the incidence of nonmelanoma skin cancers, including basal cell carcinoma (BCC) and squamous cell carcinoma. BCC is the most common neoplasm in Caucasian populations. Sonic hedgehog (Shh) pathway impairment plays a key role in BCC pathogenesis, and there is evidence that Shh pathway genetic variations may predispose to BCC development. We genotyped 22 single-nucleotide polymorphisms (SNPs) in 4 Shh pathway genes: SHH, GLI, SMO, and PTCH. The study group consisted of 142 BCC patients and 142 age-matched, sex-matched healthy subjects (controls). SNPs were assessed using the PCR-RFLP method. The genotype distribution for the polymorphisms in the rs104894049 331 A/T SHH, rs104894040 349 T/C SHH, and rs41303402 385 G/A SMO genes differed significantly between the BCC patients and the controls. The presence of CC genotype in the SHH rs104894040 349 T/C polymorphism was linked to the highest risk of BCC development (OR 87.9, p < 0.001). Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. Other investigated polymorphisms showed no statistical differences between patients and controls. The results obtained testify to the importance of the SHH and SMO gene polymorphisms in skin cancerogenesis. These results mainly underline the potential role of SHH3 rs104894040 349 T/C gene polymorphism in the development of skin basal cell carcinomas in patients of Polish origin.

PMID: 26590974 [PubMed – as supplied by publisher]

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[Organ-invasive carcinoma of the pararenal gland involving the inferior vena cava].

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[Organ-invasive carcinoma of the pararenal gland involving the inferior vena cava].

Dtsch Med Wochenschr. 2013 Feb;138(6):260-5

Authors: Dillner J, Meyer F, Lippert H, Huth C, Klose S, Roessner A, Halloul Z

Abstract
History and admission findings: A 61-year-old woman presented with a 2-month-history of progressive deterioration, increasing exertional dyspnoea and pain in the right upper abdomen (past medical history: bronchial asthma and hypertension). The physical examination showed mild generalized weakness, tenderness in the right upper abdomen, and ascites.Investigations: Laboratory studies did not reveal any hormonal abnormalities. A CT angiogram revealed a mass of the right adrenal gland with distinct invasion into the inferior vena cava, and tumour thrombosis that extended proximally into the right atrium. Distally, the tumour ended at the caudate lobe of the liver with an extensive peripherally engulfed thrombus from the inferior vena cava down to the common iliac veins.Treatment and course: An open right adrenalectomy with resection of the periadrenal tissue and extirpation of the intracaval tumour thrombus (by cavotomy under digital occlusion of the blood flow from the vena cava into the right atrium) was carried out with no significant postoperative complications. Subsequently, the patient underwent adjuvant mitotane therapy for three years. So far, no recurrence has occurred during a course of 7 years.Conclusion: Tumour induced thrombotic occlusion of the inferior vena cava and other veins is rare, especially with right atrium involvement. In the absence of other effective treatment options, the combination of radical resection and adjuvant mitotane therapy remains the only successful curative treatment for primary invasive adrenal gland carcinoma.

PMID: 23361348 [PubMed – in process]

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