Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P43146 (tumour suppressor)
5,935 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. The literature data suggest its sporadic nature. The prevailing theory concerning its cause is hypoplasia of the subclavian artery or its branches, which may lead to a range of developmental changes. Relationships have been demonstrated between tumours and Poland's syndrome and also between tumours and other developmental defects. The explanation may lie in abnormal homeobox and tumour suppressor genes. This paper presents the first literature report of a malignant tonsillo-lingual tumour with metastatic neck involvement in a patient with partial Poland's sequence. In consequence of the aplasia of the pectoralis major muscle, an alternative (a free radical forearm flap) to the routine head-and-neck reconstruction (pedicled pectoralis major flap) was necessitated following tumour excision and radical neck dissection. This case report surveys the diagnostic and therapeutic considerations when previously unnoticed Poland's syndrome is diagnosed in a patient with head-and-neck cancer. One year following major head-and-neck surgery, our patient is tumour-free.
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PMID:Poland's syndrome and head-and-neck tumour: an unusual association causing a reconstruction dilemma. 1713 51

Head and neck cancer (HNC) is a prevalent cancer worldwide. Let-7 has been shown to function as a tumour suppressor by regulating multiple oncogenic signalling pathways. However, the role of let-7 in head and neck cancer (HNC) and in HNC-associated tumour initiating cells (TIC) remains unclear. In this study, we first demonstrated that let-7a expression was significantly decreased but that Nanog/Oct4 expression was increased in HNC tissues as compared to adjacent normal cells. Expression of let-7a in recurrent HNC tissue and in regional metastatic lymph nodes of HNC patients was also significantly decreased, but Nanog/Oct4 expression was increased as compared to the expression levels in the parental tumours. Consistently, the stemness genes were significantly up-regulated and let-7a was down-regulated in HNC-ALDH1(+) cells relative to HNC-ALDH1(-) cells. Furthermore, lentiviral-mediated let-7a overexpression could significantly inhibit the stemness signature and the chemoresistant abilities of HNC-ALDH1(+) cells. Most importantly, overexpression of let-7 or knockdown of Nanog in ALDH1(+) cells effectively blocked tumour metastasis and significantly prolonged survival time in ALDH1(+)-transplanted immunocompromised mice. Overall, restoration of let-7a in HNC and HNC-TIC may be a new approach for the therapeutic treatment of HNC in the future. These results show that let-7a negatively modulates the expression of stemness genes and plays a role as a tumour suppressor in HNC by eliminating the putative HNC-TIC population.
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PMID:MicroRNA let-7a represses chemoresistance and tumourigenicity in head and neck cancer via stem-like properties ablation. 2129 42

Head and neck cancer is the sixth most common type of cancer. Tobacco and alcohol consumption are implicated in 75% of all SCCHN and have a multiplicative combined effect. It is considered to be the main risk factor for the cancer development. The identification of a number of these genetic alterations, for example mutations in the p53 tumour suppressor gene, paved the way for their use as molecular markers. Mutations in the TP53 gene frequently occur in many cancers and are present in 50-60% of head and neck cancers, p53 plays a sentinel role in the pathways that prevent development of cancer by inducing apoptosis, DNA repair and cell cycle arrest in response to different types of cellular stress The aim of the study, was the assessment of the TP53 mutations prevalence in the head and neck cancer patients and it's relation with the clinical data and course of the disease. The material comprised of peripheral blood and tumour tissue obtained from 50 HNSCC patients with a primary tumour in the oral cavity, oropharynx or larynx, who were scheduled for surgical treatment. The mutations in TP53, were detected with use of PCR-SSCP technique. In total 8 patients (16%), showed TP53 mutation in primary tumour. The significant correlation between tobacco and alcohol consumption and the mutation incidence has been observed. The site of the tumour and histopathological grading were also related to the prevalence of mutations, however without reaching the level of statistical significance. There was no correlation between mutations and the T and N stage of the disease.
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PMID:[Analysis of mutations within the TP53 gene in patients with squamous cell carcinoma of the head and neck]. 2173 67