A5063272022- Sarcoma Diagnosis and Treatment
- Tumors and Oncological Cases
- Glioma Diagnosis and Treatment
- Histiocytic Disorders and Treatments
- Soft tissue tumor case studies
- Neuroblastoma Research and Treatments
- Vascular Malformations and Hemangiomas
- Viral-associated cancers and disorders
- Renal and related cancers
- Cancer Diagnosis and Treatment
- Testicular diseases and treatments
- Cutaneous Melanoma Detection and Management
- Bone Tumor Diagnosis and Treatments
- Childhood Cancer Survivors' Quality of Life
- Nonmelanoma Skin Cancer Studies
- Surgical site infection prevention
- Ear and Head Tumors
- Lung Cancer Treatments and Mutations
- Management of metastatic bone disease
- Renal Diseases and Glomerulopathies
- Neurofibromatosis and Schwannoma Cases
- Oral and Craniofacial Lesions
- Oral and Maxillofacial Pathology
- Urologic and reproductive health conditions
- Myasthenia Gravis and Thymoma
Great Ormond Street Hospital for Children NHS Foundation Trust
2015-2025
University College London
2001-2024
Great Ormond Street Hospital
2001-2024
United Nations Industrial Development Organization
2023
Universitatea Ecologica din Bucuresti
2018
Institute of Cancer Research
2007
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, Tp53 have been described individual CMN samples; however, their role the pathogenesis multiple within same subject development features has not clear. We hypothesized that a single postzygotic mutation NRAS could responsible for individual, as well nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples were sequenced after...
PURPOSE Off-label use of vemurafenib (VMF) to treat BRAF V600E mutation–positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated. PATIENTS AND METHODS Fifty-four patients from 12 countries took VMF 20 mg/kg/d. They were classified according risk organ involvement: liver, spleen, and/or blood cytopenia. The main evaluation criteria adverse events (Common Terminology Criteria for Adverse Events [version 4.3]) and therapeutic responses Disease Activity Score. RESULTS...
Soft tissue tumors of infancy encompass an overlapping spectrum diseases that pose unique diagnostic and clinical challenges. We studied genomes transcriptomes cryptogenic congenital mesoblastic nephroma (CMN), extended our findings to five anatomically or histologically related soft tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid clear cell sarcoma the kidney. A key finding is recurrent mutation EGFR in CMN by internal tandem duplication kinase...
Bevacizumab is increasingly used in children with pediatric low-grade glioma (PLGG) despite limited evidence. A nationwide UK service evaluation was conducted to provide larger cohort "real life" safety and efficacy data including functional visual outcomes.Children receiving bevacizumab-based treatments (BBT) for PLGG (2009-2020) from 11 centers were included. Standardized neuro-radiological (RANO-LGG) (logMAR acuity) criteria assess clinical-radiological correlation, survival outcomes...
Primary melanoma of the CNS in children is extremely rare, and usually linked to congenital melanocytic naevus syndrome, caused by mosaicism for oncogenic NRAS mutations. Outcome fatal all cases. Data from murine vitro studies suggest that MEK inhibition a possible therapeutic option.Four with NRAS-mutated were treated Trametinib on compassionate basis.All four had an improvement symptoms objectively signs. These varied mild 1 month, sustained symptom-free period 9 months one case. In cases...
Abstract Objective Survivors of pediatric head and neck rhabdomyosarcoma (HNRMS) are at risk developing endocrinopathies following local treatment, resulting from radiation damage to the pituitary gland, hypothalamus, or thyroid often a young age. Our aim was determine prevalence endocrine dysfunction in long-term HNRMS survivors compare anterior insufficiency (API) among different treatment strategies: external beam with photons, protons, microscopically radical surgery combined...
Background and purpose The of this study was to address the lack published data on use brachytherapy in pediatric rhabdomyosarcoma by describing current practice as starting point develop consensus guidelines. Materials methods An international expert panel treatment comprising 24 (pediatric) radiation oncologists, brachytherapists surgeons met for a Brachytherapy Workshop hosted European paediatric Soft tissue Sarcoma Study Group (EpSSG). panel's clinical experience, results previously...
To test the hypothesis that poor response to chemotherapy in patients with bilateral Wilms tumor may be associated appearance of rhabdomyomatous histology, suggesting a differentiation response.Twenty-six were treated at authors' hospital between 1985 and 1995. Radiologic presurgical was assessed, postsurgery histology reviewed.There significant association postchemotherapy surgical specimens radiologic response. Poor did not, however, necessarily mean outcome: 11 differentiation, 7 are...
Abstract Background Conservative surgery (CS) brachytherapy (BT) techniques for local therapy in bladder–prostate rhabdomyosarcoma (BP‐RMS) seek to retain organ function. We report bladder function after high‐dose rate (HDR) BT combined with targeted CS any vesical component of BP‐RMS. Procedure Prospective cohort all BP‐RMS patients between 2014 and 2019 receiving HDR‐BT (iridium‐192, 27.5 Gy five fractions) with/without percutaneous endoscopic polypectomy (PEP) or partial cystectomy (PC)....
Objectives To determine the hearing status of survivors treated for head and neck rhabdomyosarcoma (HNRMS) at long‐term follow‐up. Design Cross‐sectional follow‐up study. Setting Tertiary comprehensive cancer centre. Participants Survivors HNRMS during childhood in two concurrent cohorts; London had been with external beam radiotherapy (EBRT‐based local therapy); Amsterdam were AMORE (Ablative surgery, MOuld technique afterloading brachytherapy surgical REconstruction) if feasible, otherwise...
Head and neck rhabdomyosarcoma (HNRMS) survivors are at risk to develop adverse events (AEs). The impact of these AEs on psychosocial well-being is unclear. We aimed assess HNRMS examine whether outcomes were associated with burden therapy.Sixty-five (median follow-up: 11.5 years), treated in the Netherlands United Kingdom between 1990 2010 alive ≥2 years after treatment visited outpatient multidisciplinary follow-up clinic once, which scored based a predefined list according Common...
Wilms tumour (WT) is the commonest primary malignant renal of childhood. Acquired von Willebrand syndrome (avWS) a well-described paraneoplastic phenomenon, but it uncommon and may not be detected until clinically significant bleeding encountered during interventional procedures. Previous studies on small cohorts patients have determined an incidence between 4 8%. We performed retrospective study cases WT presenting over 11.5-year period to paediatric haematology/oncology unit in tertiary...
Abstract Most children with high-risk Langerhans cell histiocytosis (LCH) have BRAFV600E mutation. alleles are detectable in myeloid mononuclear cells at diagnosis but it is not known if the cellular distribution of mutation evolves over time. Here, profiles 16 patients disease were analyzed. Two received conventional salvage chemotherapy, 4 on inhibitors tracked intervals 3 to 6 years, and 10 patients, also given inhibitors, analyzed more than 2 years after diagnosis. In contrast responding...
Abstract Introduction Radiotherapy is essential for achieving and maintaining local control in head neck rhabdomyosarcoma (HNRMS) patients. However, radiotherapy may cause outgrowth disturbances of facial bone soft tissue, resulting asymmetry. The aim this study was to develop a method visualize measure asymmetry HNRMS survivors using three‐dimensional (3D) imaging techniques. Methods Facial deformity evaluated multidisciplinary clinical assessment 75 survivors, treated with external beam...
Abstract Background Previous studies have found that parents of children with cancer desire more prognostic information than is often given even when prognosis poor. We explored in audio‐recorded consultations the kinds they seek. Methods Ethnographic study including observation and audio recording at diagnosis. Consultations were transcribed analyzed using an interactionist perspective tools drawn from conversation discourse analysis. Results Enrolled 21 12 clinicians 13 cases diagnosed a...