Lucia Pedace
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View article: Unique Genetic and Epigenetic Alterations in Glioblastoma Long‐Term Survivors: Insights From Two Clinical Cases
Unique Genetic and Epigenetic Alterations in Glioblastoma Long‐Term Survivors: Insights From Two Clinical Cases Open
The biological mechanisms driving the long survival in glioblastoma (GBM). Five‐year long‐term survival (LTS) and 10‐year survival very long‐term survival (VLTS) remain significantly understudied. Here we molecularly detailed two cases. AR…
View article: Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model
Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model Open
Introduction Nephropathic cystinosis is a rare genetic disorder characterized by cystine accumulation in lysosomes that causes early renal dysfunction and progressive chronic kidney disease. Although several metabolic pathways, including o…
View article: Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement Open
View article: Age-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic target
Age-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic target Open
View article: Quantification of tumour-infiltrating immune cells through deconvolution of DNA methylation data in Ewing sarcomas
Quantification of tumour-infiltrating immune cells through deconvolution of DNA methylation data in Ewing sarcomas Open
Ewing Sarcomas (EWS, OMIM # 612219) presents a major challenge in pediatric oncology due to its aggressive nature and poor prognosis, particularly in metastatic cases. Genetic fusions involving the EWSR1 gene and ETS family transcription f…
View article: Mitochondrial sites of contact with the nucleus aid in chemotherapy evasion of glioblastoma cells
Mitochondrial sites of contact with the nucleus aid in chemotherapy evasion of glioblastoma cells Open
Glioblastoma (GBM) is the most common form of a malignant primary brain tumour in adults for which therapeutic options are minimal. The rapid onset of the resistance mechanisms against the chemotherapeutic agent Temozolomide (TMZ), the fir…
View article: METB-10. GENOME-WIDE DNA METHYLATION PROFILING OF PRIMARY CELLS FROM PEDIATRIC BRAIN TUMORS IS AN INFORMATIVE TOOL TO ASSESS CELL CULTURE RELIABILITY AND IN VITRO SELECTION
METB-10. GENOME-WIDE DNA METHYLATION PROFILING OF PRIMARY CELLS FROM PEDIATRIC BRAIN TUMORS IS AN INFORMATIVE TOOL TO ASSESS CELL CULTURE RELIABILITY AND IN VITRO SELECTION Open
BACKGROUND Recent genomic and epigenomic profiling analyses have provided remarkable insights into biology of pediatric brain tumors (pBTs). Nonetheless, pBTs represent the deadliest childhood cancer worldwide and are associated with high …
View article: METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTERIZATION OF PAEDIATRIC CENTRAL NERVOUS SYSTEM TUMOURS: ANALYSIS OF A MONO-INSTITUTIONAL SERIES OF 26 CASES
METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTERIZATION OF PAEDIATRIC CENTRAL NERVOUS SYSTEM TUMOURS: ANALYSIS OF A MONO-INSTITUTIONAL SERIES OF 26 CASES Open
BACKGROUND Optical Genome Mapping (OGM) is a recent platform which enables the detection of genome-wide balanced and unbalanced structural rearrangements (SR), providing a genome complexity overview. METHODS This study explores OGM impleme…
View article: Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling Open
View article: A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION
A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION Open
Background and aims: GATA2 deficiency is a rare disorder encompassing a broadly variable and continuously evolving phenotype. First described in 2011, up to 500 patients have been reported. Here, we describe 31 Italian patients (26 familie…
View article: Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder
Germline bi-allelic <i>SH2B3/LNK</i> alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder Open
Juvenile myelomonocytic leukemia (JMML) is a rare, generally aggressive myeloproliferative neoplasm affecting young children. It is characterized by granulomonocytic expansion, with monocytosis infiltrating peripheral tissues. JMML is init…
View article: Identification of a robust DNA methylation signature for Fanconi anemia
Identification of a robust DNA methylation signature for Fanconi anemia Open
View article: Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation Open
We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko’s lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18…
View article: Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles Open
View article: EPCO-02. GENOME-WIDE DNA METHYLATION PROFILING AND GENETIC CHARACTERIZATION OF LONG-TERM SURVIVAL IDH WILD-TYPE GLIOBLASTOMA PATIENTS
EPCO-02. GENOME-WIDE DNA METHYLATION PROFILING AND GENETIC CHARACTERIZATION OF LONG-TERM SURVIVAL IDH WILD-TYPE GLIOBLASTOMA PATIENTS Open
Glioblastoma multiforme (GBM) has a dismal outcome of approximately 12 months. Less than 5% of patients (long-term survivors-LTS) survives more than 5-years, including IDH-mutant gliomas. Nevertheless, the molecular fingerprint of LTS rema…
View article: Adult-onset KMT2B-related dystonia
Adult-onset KMT2B-related dystonia Open
KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability…
View article: αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes
αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes Open
αβTand B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromesIn this study, we investigated the outcomes of pediatric patients affected by myelodysplastic syndromes (MDS) and l…
View article: Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome Open
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical fe…
View article: dataset relared to article "Childhood‑onset dystonia‑causing KMT2B variants result in a distinctive genomic hypermethylation profile"
dataset relared to article "Childhood‑onset dystonia‑causing KMT2B variants result in a distinctive genomic hypermethylation profile" Open
Sanger sequences (.abi files) of all patients of Fondazione Besta cohort.
View article: dataset relared to article "Childhood‑onset dystonia‑causing KMT2B variants result in a distinctive genomic hypermethylation profile"
dataset relared to article "Childhood‑onset dystonia‑causing KMT2B variants result in a distinctive genomic hypermethylation profile" Open
Sanger sequences (.abi files) of all patients of Fondazione Besta cohort.
View article: Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Open
Background Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements and/or postures. Heterozygous variants in lysi…
View article: TMOD-05. GENOME-WIDE DNA METHYLATION PROFILE: A POWERFUL STRATEGY TO RECAPITULATE HETEROGENEITY OF PEDIATRIC BRAIN TUMORS IN PRIMARY CELL LINES
TMOD-05. GENOME-WIDE DNA METHYLATION PROFILE: A POWERFUL STRATEGY TO RECAPITULATE HETEROGENEITY OF PEDIATRIC BRAIN TUMORS IN PRIMARY CELL LINES Open
Background Development of in vitro models of pediatric brain tumors (pBT) is instrumental for both understanding the contributing oncogenic molecular mechanisms and identifying and testing new therapeutic strategies. Primary cell lines sho…
View article: Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle: A Case of Relapse Treated with Proton Beam Therapy
Rosette-Forming Glioneuronal Tumor of the Fourth Ventricle: A Case of Relapse Treated with Proton Beam Therapy Open
Rosette-forming glioneuronal tumors (RGNTs) are rare, grade I, central nervous system (CNS) tumors typically localized to the fourth ventricle. We describe a 9-year-old girl with dizziness and occipital headache. A magnetic resonance imagi…
View article: SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Open
View article: Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling Open
MNTI is a rare tumor of indeterminate histogenesis and molecular signature. We performed methylation and copy number variation (CNV) profiles in patients with MNTI (n = 7) and PAT (n = 1) compared to the methylation brain tumor classifier …
View article: Additional file 12 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Additional file 12 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Open
Additional file 12: Table S4. Regions showing differential methylation in DYT28.
View article: Additional file 10 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Additional file 10 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Open
Additional file 10: Table S2. Sex and age of the patient and control groups used in the episignature discovery analysis.
View article: Additional file 11 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Additional file 11 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Open
Additional file 11: Table S3. Probes defining the methylation episignature associated with DYT28-causing KMT2B variants.
View article: Additional file 9 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Additional file 9 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Open
Additional file 9: Table S1. Clinical characterization of the study cohort.
View article: Recurrent genetic fusions redefine <i>MLL </i>germ line acute lymphoblastic leukemia in infants
Recurrent genetic fusions redefine <i>MLL </i>germ line acute lymphoblastic leukemia in infants Open
B-cell precursor (BCP) acute lymphoblastic leukemia (BCP-ALL) in infants (ie, children age <1 year) is a rare disease traditionally subdivided into MLL-rearranged (alias KMT2A; MLL-R) and MLL germ line (MLL-G) subtypes. MLL gene rearrangem…