A5086853178- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Chromatin Remodeling and Cancer
- Meningioma and schwannoma management
- Soft tissue tumor case studies
- Genetic factors in colorectal cancer
- Multiple Myeloma Research and Treatments
- Signaling Pathways in Disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Soft tissue tumors and treatment
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2018-2023
Centro de Investigación Biomédica en Red de Cáncer
2018-2022
Institute of Predictive and Personalized Medicine of Cancer
2010-2020
Instituto de Salud Carlos III
2020
Institut d'Investigació Biomédica de Bellvitge
2010
Plexiform neurofibromas (pNFs) are developmental tumors that appear in neurofibromatosis type 1 individuals, constituting a major source of morbidity and potentially transforming into highly metastatic sarcoma (MPNST). pNFs arise after NF1 inactivation cell the neural crest (NC)-Schwann (SC) lineage. Here, we develop an iPSC-based NC-SC vitro differentiation system construct lineage expression roadmap for analysis different 2D 3D NF models. The best model consists generating heterotypic...
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling integrity DNA likely to influence number developed because dNFs caused by somatic mutational inactivation NF1 gene, frequently evidenced loss heterozygosity (LOH). We performed a comprehensive analysis prevalence and mechanisms LOH in dNFs. Our study included 518 from 113 was detected 25% (N = 129). The most frequent mechanism...
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)...
ABSTRACT: DNA mismatch repair (MMR) genes have been described to participate in crossover events during meiotic recombination, which is, turn, a key step of spermatogenesis. This evidence suggests that MMR family gene expression may be altered infertile men with defective sperm production. In order determine the profile impaired human spermatogenesis, we performed transcript levels analysis ( MLH1 , MLH3 PMS2 MSH4 and MSH5 ), other meiosis‐involved ATR HSPA2 SYCP3 ) as controls, by real‐time...
Abstract Malignant peripheral nerve sheath tumors ( MPNST s) are soft‐tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1 NF 1). These aggressive malignancies confer poor survival, no effective therapy available. We present the generation and characterization of five distinct orthoxenograft models for preclinical testing personalized medicine. Four patient‐derived tumor xenografts PDTX ), two independent s from same patient different sporadic...
Abstract Background Malignant peripheral nerve sheath tumor (MPNST) constitutes the leading cause of neurofibromatosis type 1–related mortality. MPNSTs contain highly rearranged hyperploid genomes and exhibit a high division rate aggressiveness. We have studied in vitro whether mitotic kinesins KIF11, KIF15, KIF23 functional role maintaining MPNST cell survival can represent potential therapeutic vulnerabilities. Methods expression kinesin mRNAs proteins tumors lines used several assays to...
About 5% of patients with neurofibromatosis type 1 (NF1) bear constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes. These are characterized by the development a high number dermal neurofibromas (dNFs), mental retardation, an increased risk developing malignant peripheral nerve sheath tumor (MPNST). Additionally, 10% somatic second hits identified in dNFs caused deletions involving gene. To detect deletions, we developed probe-based quantitative PCR (qPCR)...
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...
The study of somatic genetic alterations in tumors contributes to the understanding and management cancer. Genetic alterations, such us copy number or neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic markers. Here we report development a simple set calculations for analyzing microsatellite multiplex PCR data from control-tumor pairs allows obtain accurate information not only regarding AI status tumors, but also percentage tumor-infiltrating normal...
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...