Dysregulated mitogen ‐activated protein kinase signalling as an oncogenic basis for clear cell sarcoma of the kidney
Abstract
The oncogenic mechanisms and tumour biology underpinning Clear Cell Sarcoma of Kidney (CCSK), the second commonest paediatric renal malignancy, are poorly understood and currently therapy depends heavily on doxorubicin with cardiotoxic side‐effects. Previously, we characterised the balanced t(10;17)(q22;p13) chromosomal translocation, identified at that time as the only recurrent genetic aberration in CCSK. This translocation results in an in‐frame fusion of the genes YWHAE (encoding 14‐3‐3ε)and NUTM2, with a somatic incidence of 12%. Clinico‐pathological features of that cohort suggested that this a...
Source: The Journal of Pathology - December 15, 2017 Category: Pathology Authors: Colin Kenny, Naomi McDonagh, Antonio Lazaro, Elaine O'Meara, Rut Klinger, Darran O'Connor, Fiona Roche, Karsten Hokamp, Maureen J. O'Sullivan Tags: Original Paper Source Type: research
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease
Abstract
The glycosphingolipidosis, Gaucher disease, in which a range of neurological manifestations occur, results from a deficiency of acid β‐glucocerebrosidase, with subsequent accumulation of β‐glucocerebroside, its upstream substrates, and the non‐acylated congener β‐glucosylsphingosine. However, the mechanisms by which end‐organ dysfunction arise are poorly understood. Here, we report strikingly diminished cerebral microvascular density in a murine model of disease, and provide a detailed analysis of the accompanying cerebral glycosphingolipidome in these animals, with marked elevations of β‐glucosyls...
Source: The Journal of Pathology - December 14, 2017 Category: Pathology Authors: Nicholas JC Smith, Maria Fuller, Jennifer T Saville, Timothy M Cox Tags: Original Paper Source Type: research
Novel enriched pathways in superficial malignant peripheral nerve sheath tumours and spindle/desmoplastic melanomas
Abstract
Superficial malignant peripheral nerve sheath tumour (MPNST) is a rare, soft tissue neoplasm that shares morphological features and some molecular events with spindle/desmoplastic melanoma (SDM). Herein, we sought to identify molecular targets for therapy by using targeted RNA/DNA sequencing and gene expression of key immunological players. DNA and RNA from formalin‐fixed paraffin‐embedded tissue were extracted and processed. Massive high‐throughput deep parallel sequencing was performed with the Oncomine comprehensive panel, enabling detection of relevant single‐nucleotide variants, copy number variations...
Source: The Journal of Pathology - December 14, 2017 Category: Pathology Authors: George Jour, Nicole K Andeen, Rami al ‐Rohil, Phyu P Aung, Meenakshi Mehrotra, Dzifa Duose, Benjamin Hoch, Zolt Argenyi, Rajyalakshmi Luthra, Ignacio I Wistuba, Victor G Prieto Tags: Original Paper Source Type: research
Translational Pathology and the Understanding of Disease
(Source: The Journal of Pathology)
Source: The Journal of Pathology - December 14, 2017 Category: Pathology Authors: Simon Herrington Tags: Editorial Source Type: research
Issue Information
(Source: The Journal of Pathology)
Source: The Journal of Pathology - December 14, 2017 Category: Pathology Tags: Issue Information Source Type: research
