A5037864354- Neurofibromatosis and Schwannoma Cases
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Sarcoma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Soft tissue tumors and treatment
- Soft tissue tumor case studies
- Bone Tumor Diagnosis and Treatments
- Genomics and Rare Diseases
- Signaling Pathways in Disease
- Melanoma and MAPK Pathways
- Hippo pathway signaling and YAP/TAZ
- Systemic Lupus Erythematosus Research
- Vascular Malformations and Hemangiomas
- Nerve injury and regeneration
- Vascular Malformations Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Genetic factors in colorectal cancer
- Cellular Mechanics and Interactions
- BRCA gene mutations in cancer
- Gene expression and cancer classification
- Hedgehog Signaling Pathway Studies
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2018-2024
Hospital Universitari Germans Trias i Pujol
2000-2022
Centro de Investigación Biomédica en Red de Cáncer
2018-2019
Institute of Predictive and Personalized Medicine of Cancer
2012-2019
Abstract We wanted to implement an NGS strategy globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, developed I2HCP panel, a custom bait library covering 122 genes. improved design, tested different platforms created clinically driven data analysis pipeline. The panel was using training set colorectal cancer, breast ovarian neurofibromatosis patients reached accuracy, analytical...
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30%-50% Neurofibromatosis type 1 (NF1) patients. Atypical (ANF) distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation ANF is difficult to assess. A recent NIH workshop has stratified ANFs separated a subgroup multiple higher termed neurofibromatous neoplasms uncertain biological potential (ANNUBP). We...
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the nervous system that develop either sporadically or in context neurofibromatosis type 1 (NF1). MPNST diagnosis can be challenging and treatment outcomes poor. We present here a resource consisting genomic characterization 9 widely used human cell lines for their use translational research. NF1-related recapitulated primary copy number profiles, exhibited NF1, CDKN2A, SUZ12/EED tumor suppressor gene (TSG)...
Cutaneous neurofibromas (cNFs) are benign Schwann cell (SC) tumors arising from subepidermal glia. Neurofibromatosis Type 1 (NF1) individuals may develop thousands of cNFs, greatly affecting their quality life. cNF growth is driven by the proliferation NF1(-/-) SCs and interaction with NF1(+/-) microenvironment. We analyzed crosstalk between human cNF-derived fibroblasts (FBs), identifying an expression signature specific to SC-FB interaction. validated secretion proteins involved in immune...
A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for proper genetic diagnostics. This challenged by the fact that schwannomas in both conditions bear somatic double inactivation NF2 gene. However, SMARCB1-associated follow four-hit, three-step model, which alleles SMARCB1 genes are inactivated tumor, with one steps being always loss big part chromosome 22 involving loci.Here...
Abstract Children with neurofibromatosis type 1 (NF1) may exhibit an incomplete clinical presentation, making difficult to reach a diagnosis. A phenotypic overlap exist in children other RASopathies or genetic conditions if only multiple café‐au‐lait macules (CALMs) are present. The syndromes that can converge these inconclusive phenotypes have different courses. In this context, early testing has been proposed be clinically useful manage patients. We present the validation and...
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1 . Recently, testing has been included as a clinical criterion for diagnosis. Additionally, preconception genetic counselling patients with focuses on 50% risk of transmitting the familial variant having sporadic considered same general population. Methods 829 individuals, 583 cases and 246 documented family history, underwent NF1. Genotyping segregation analysis was determined microsatellite...
Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors nervous system. An early diagnosis individuals with NF2 would facilitate treatment and reduction disease impact because most severe effects do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen patients NF2, normally appearing either at birth or childhood, providing an...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) useful to predict progression disease from germline pathogenic variants, which allows clinical follow-up genetic counselling offered affected families be optimised.52 Spanish patients were classified using GSS, patients' severity was measured compared between GSS groups. reviewed...
Neurofibromatosis Type 1 (NF1) is a genetic condition affecting approximately 1:3500 persons worldwide. The NF1 gene codes for neurofibromin protein, GTPase activating protein (GAP) and negative regulator of RAS. undergoes alternative splicing exon 23a (E23a) that 21 amino acids placed at the center GAP related domain (GRD). E23a-containing type II exhibits weaker Ras-GAP activity compared to E23a-less I isoform. Exon E23a has been with cognitive impairment present in individuals. We...
Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are soft tissue sarcomas that arise from the nervous system. Half of develop in context genetic disease Neurofibromatosis type 1 (NF1) and rest sporadic sarcomas. MPNSTs have a dismal prognosis due to their aggressiveness tendency metastasize, new treatment options needed. The diagnosis can be challenging, especially outside NF1 since specific histological criteria not been completely established. Genomic analysis may both...
Abstract Background Neurofibromatosis Type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple schwannomas, particularly at vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) helps predicting disease course from germline pathogenic variants, optimizing clinical follow-up genetic counselling offered to affected families. Methods Spanish Reference Center patients were classified following GSS patients’ severity was measured compared...
Abstract Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by loss of function variants in the NF2 gene, which codes for protein Merlin, and characterized development multiple tumours nervous system. The clinical presentation disease variable related to inherited germline variant. Here, we tested if PMOs could be used correct splice signalling at +/-13 within intron-exon boundary region. Here show that designed these do not constitute a therapeutic approach....
ABSTRACT NF2-related schwannomatosis is an autosomal dominant syndrome that predisposes to the development of benign tumors nervous system. Schwannomas, particularly bilateral vestibular schwannomas (VS), are most characteristic features disease. These caused by bi-allelic inactivation NF2 gene in a cell Schwann lineage. Our current understanding molecular pathogenesis gene, as well new effective therapies hampered absence human non-perishable cell-based bearing distinct pathogenic variants....
Abstract Cutaneous neurofibromas (cNFs) are benign Schwann cell (SC) tumors arising from subepidermal glia. Neurofibromatosis Type 1 (NF1) individuals may develop thousands of cNFs, greatly affecting their quality life. cNF growth is governed by the proliferation NF1 (-/-) SCs, highly influenced interaction with a (+/-) microenvironment, consisting fibroblasts (FBs), immune cells, etc. To decompose crosstalk between SCs and microenvironment we used single cultures co-cultures cNF-derived FBs...