Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched… (More)
BACKGROUND E-cadherin, a cell surface protein involved in cell adhesion, is present in normal breast epithelium, benign breast lesions, and in breast carcinoma. Alterations in the gene CDH1 on chromosome 16q22 are associated with changes in E-cadherin protein expression and function. Inactivation of E-cadherin in lobular carcinomas and certain diffuse… (More)
Integrated sequencing analysis identified a group of tumors among clear cell renal cell carcinomas characterized by hotspot mutations in TCEB1 (a gene that contributes to the VHL complex to ubiquitinate hypoxia-inducible factor). We analyzed 11 tumors from two distinct cohorts with TCEB1 mutations along with an expanded cohort to assess whether these should… (More)
Accurate subtyping of renal cell carcinoma (RCC) is of crucial importance for understanding disease progression and for making informed treatment decisions. New discoveries of significant alterations to mitochondria between subtypes make immunohistochemical (IHC) staining based image classification an imperative. Until now, accurate quantification and… (More)
Renal cell carcinomas with unclassified histology (uRCC) constitute a significant portion of aggressive non-clear cell renal cell carcinomas that have no standard therapy. The oncogenic drivers in these tumours are unknown. Here we perform a molecular analysis of 62 high-grade primary uRCC, incorporating targeted cancer gene sequencing, RNA sequencing,… (More)
An unusual presentation of a not so uncommon disease is described. Practical difficulties in arriving at a diagnosis of paralytic rabies are discussed. An enquiry of exposure and suspicion of rabies in atypical Landry's paralysis is stressed. The importance of autopsy to confirm either of the diagnoses is emphasized.