Synonymous mutations frequently act as driver mutations in human cancers. Supek F, Miñana B, Valcárcel J, Gabaldón T, Lehner B. Cell. 2014 Mar 13;156(6):1324-35. doi:10.1016/j.cell.2014.01.051 . PMID: 24630730 [PubMed - indexed for MEDLINE]
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PDGFRB-related infantile myofibromatosis
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB).
Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for (...)
The gene NDRG4 is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Exome sequencing (...)
Automated semantic annotation of rare disease cases: a case study. Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ. Database (Oxford). 2014 Jun 4;2014. pii: bau045. doi:10.1093/database/bau045 . PMID: #24903515# [Free]
squamous-cell carcinoma; SCC
sun exposition (cutaneous SCC)
HPV infection (head and neck SCC, cervical SCC, anal SCC)
SOX2 controls tumour initiation and cancer stem-cell functions in squamous-cell carcinoma. (#24909994#)
heand and neck squamous cell carcinoma oral squamous cell carcinoma parotidal squamous cell carcinoma tonsilar squamous cell carcinoma sinusal squamous cell carcinoma hypopharyngeal squamous cell carcinoma laryngeal squamous cell (...)
Since the latest 2004 publication on lung carcinoma by the World Health Organization Committee and subsequent publications by the International Association for the Study of Lung Cancer, the introduction of terms such as “pulmonary adenocarcinoma in situ” and “minimally invasive adenocarcinoma” to replace the category of what is known as “bronchioloalveolar carcinoma.”
Over the decade 2000-2010, use of the term bronchioloalveolar carcinoma (BAC) has come under constant scrutiny as some (...)
Malignant tumors of the paranasal sinus are uncommon, constituting less than 1% of all malignancies and 3% of all head and neck cancers. Nonsquamous cancers of the maxillary sinus are even rarer as is evident from the limited data available on the clinical characteristics and outcomes. Mucoepidermoid carcinoma accounts for 13% of all malignancies occurring in maxillary sinus.
Mucoepidermoid carcinoma accounts for 13% of all malignancies occurring in maxillary sinus.
Sinusal localisation of Aspergillus sp.
Pulmonary lymphoepithelioma-like carcinoma is morphologically similar to its counterpart in the head and neck area. It is characterized by a prominent syncytial growth pattern and typically has pushing borders to the adjacent pulmonary parenchyma.
Lymphoepithelioma-like carcinoma is an uncommon but distinct form of non-small cell carcinoma that found inclusion into the large cell carcinoma category in the 1999 WHO schema based on the absence of distinct squamous or glandular (...)