Publications by authors named "Sarah Farndon"
National UK guidelines for the management of paediatric craniopharyngioma.
Lancet Diabetes Endocrinol
September 2023
Article Synopsis
- Craniopharyngiomas are rare tumors that make up about 80% of childhood tumors in the hypothalamic-pituitary region, which can lead to significant long-term health issues despite their benign nature.
- Their location near critical brain structures like the visual pathways, hypothalamus, and pituitary gland complicates treatment and can result in neuroendocrine problems, even though survival rates are generally high.
- In response to varying treatment approaches, a national initiative in the UK aims to create standardized, evidence-based guidelines for managing these tumors in children, developed by key medical organizations and using a specific methodology for consistency in care.
Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma represented independent tumors in two children with pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood.
View Article and Find Full Text PDFTissue-resident immune cells are important for organ homeostasis and defense. The epithelium may contribute to these functions directly or by cross-talk with immune cells. We used single-cell RNA sequencing to resolve the spatiotemporal immune topology of the human kidney.
View Article and Find Full Text PDFMessenger RNA encodes cellular function and phenotype. In the context of human cancer, it defines the identities of malignant cells and the diversity of tumor tissue. We studied 72,501 single-cell transcriptomes of human renal tumors and normal tissue from fetal, pediatric, and adult kidneys.
View Article and Find Full Text PDFArticle Synopsis
- - The study focuses on congenital mesoblastic nephroma (CMN) and its genetic characteristics, comparing it with related soft tissue tumors of infancy.
- - A significant discovery includes a recurrent mutation in the EGFR gene specific to CMN, helping to differentiate it from other pediatric kidney tumors.
- - The research also identifies intragenic rearrangements in the BRAF gene in both CMN and infantile fibrosarcoma (IFS), suggesting new diagnostic markers and potential treatments for these tumors.
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases.
View Article and Find Full Text PDFOsteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date, comprising 112 childhood and adult tumours encompassing all major histological subtypes. A key finding of our study is the identification of mutations in insulin-like growth factor (IGF) signalling genes in 8/112 (7%) of cases.
View Article and Find Full Text PDFLymphadenopathy is a common finding in children. It often causes anxiety among parents and healthcare professionals because it can be a sign of cancer. There is limited high-quality evidence to guide clinicians as to which children should be referred for lymph node biopsy.
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