A5017743088- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Acute Lymphoblastic Leukemia research
- Retinoids in leukemia and cellular processes
- Hemoglobinopathies and Related Disorders
- Lymphoma Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- Epigenetics and DNA Methylation
- Chronic Lymphocytic Leukemia Research
- Otitis Media and Relapsing Polychondritis
- Immunodeficiency and Autoimmune Disorders
- Renal and related cancers
- Histone Deacetylase Inhibitors Research
- DNA Repair Mechanisms
- Sarcoma Diagnosis and Treatment
- Platelet Disorders and Treatments
- Cancer Genomics and Diagnostics
- FOXO transcription factor regulation
- Cancer-related gene regulation
- RNA modifications and cancer
- Immune cells in cancer
- Fibroblast Growth Factor Research
- Bone Tissue Engineering Materials
- Hematological disorders and diagnostics
University of Rome Tor Vergata
2017-2024
Policlinico Tor Vergata
2024
National University Cancer Institute, Singapore
2020
National University of Singapore
2020
Università Cattolica del Sacro Cuore
2012-2017
Although hypomethylating agents are currently used to treat patients with cancer, whether they can also reactivate and up-regulate oncogenes is not well elucidated.We examined the effect of on SALL4, a known oncogene that plays an important role in myelodysplastic syndrome other cancers. Paired bone marrow samples were obtained from two cohorts before after treatment agent explore relationships among changes SALL4 expression, response, clinical outcome. Leukemic cell lines low or...
Abstract VEXAS is a prototypic hemato‐inflammatory disease combining rheumatologic and hematologic disorders in molecularly defined nosological entity. In this nationwide study, we aimed at screenshotting the current diagnostic capabilities clinical‐genomic features of VEXAS, tracked UBA1 longitudinal clonal dynamics upon different therapeutics, including allogeneic hematopoietic cell transplant. We leveraged collaboration between Italian Society Experimental Hematology Rheumatology...
Abstract Despite the high probability of cure patients with acute promyelocytic leukemia (APL), mechanisms relapse are still largely unclear. Mutational profiling at diagnosis and/or may help to identify APL needing frequent molecular monitoring and early treatment intervention. Using an NGS approach including a 31 myeloid gene‐panel, we tested BM samples 44 APLs time diagnosis, relapse. Mutations in PML RARA genes were studied using customized‐NGS‐RNA panel. Patients relapsing after...
Abstract Clonal haematopoiesis of indeterminate potential (CHIP) may predispose for the development therapy‐related myeloid neoplasms (t‐MN). Using target next‐generation sequencing (t‐NGS) panels and digital droplet polymerase chain reactions (ddPCR), we studied gene mutation profiles patients with chronic lymphocytic leukaemia (CLL) who developed a t‐MN after treatment chemo‐(immuno)therapy. NGS, detected total 30 pathogenic/likely pathogenic (P/LP) variants in 10 13 (77%, median number...
// Emiliano Fabiani 1, 2, * , Giulia Falconi Luana Fianchi 2 Marianna Criscuolo Tiziana Ottone 1 Laura Cicconi Stefan Hohaus Simona Sica Massimiliano Postorino Antonino Neri 3 Marta Lionetti Giuseppe Leone Francesco Lo-Coco Maria Teresa Voso Department of Biomedicine and Prevention, Universita' Tor Vergata, Rome, Italy Hematology, Cattolica S. Cuore, Clinical Sciences Community Health, Università degli studi di Milano, These authors have contributed equally to this work Correspondence to:...
Therapy-related myeloid neoplasms (t-MNs) are an increasingly recognized complication in patients previously treated with radiotherapy and/or chemotherapy for cancer or autoimmune disease. Single nucleotide variants (SNVs) genes involved the cellular pathways of detoxification, DNA repair and apoptosis may modify individual risk developing a t-MN. We studied frequency SNVs six xenobiotic detoxification (CYP3A4, NQO1, GSTA1, GSTM1, GSTP1 GSTT1), two (RAD51 XRCC3) one key regulator (BCL2L10)...
The ZBTB16-RARA fusion gene, resulting from the reciprocal translocation between ZBTB16 on chromosome 11 and RARA genes 17 [t(11;17)(q23;q21)], is rarely observed in acute myeloid leukemia (AML), accounts for about 1% of retinoic acid receptor-α (RARA) rearrangements. AML with this rare shows unusual bone marrow (BM) morphology, intermediate aspects promyelocytic (APL) maturation. Patients may have a high incidence disseminated intravascular coagulation at diagnosis, are poorly responsive to...
Abstract Bone marrow mesenchymal stem cells (BM-MSCs) exhibit multiple abnormalities in myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML), including reduced proliferative clonogenic capacity, altered morphology, impaired immunoregulatory properties capacity to support hematopoiesis. Here, we investigated expression of the FOXM1 gene, a transcription factor driving G2/M gene expression, BM-MSCs isolated from patients with MDS AML, de novo therapy-related, compared healthy...
Systemic-Inflammatory-Autoimmune-Diseases (SIAD) is increasingly considered in Myelodysplastic-Syndromes (MDS). In this line, we evaluated the MDS auto-immunological profile, correlating it to mutational landscape, trying identify a molecular-genetic trigger agent related SIAD.
Myelodysplastic syndromes (MDS) are highly heterogeneous myeloid diseases, characterized by frequent genetic/chromosomal aberrations. Olaparib is a potent, orally bioavailable poly(ADP-ribose) polymerase 1 (PARP1) inhibitor with acceptable toxicity profile, designed as targeted therapy for DNA repair defective tumors. Here, we investigated olaparib activity in primary cultures of bone marrow mononuclear cells collected from patients MDS (n = 28). A single treatment induced cytotoxic effects...
The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. primary manifestations are leukocytosis with disgranulopoiesis, absence of basophilia and/or monocytosis, splenomegaly and Philadelphia chromosome or BCR/ABL fusion. Overall 50‑65% patients demonstrate karyotypic abnormalities, although no specific cytogenetic alterations have been associated this disease. X rarely reported in malignancies....