Valeria Di Battista

A specific stem cell program and CD112 immunological axis dysfunctions underpinning monosomy 7-associated myeloid neoplasms

Anair Graciela Lema Fernandez, Carlotta Nardelli, Martina Quintini, Valeria Di Battista et autres

Monosomy 7 (-7) is occurring as isolated change or in complex karyotypes in 10-20% of myeloid neoplasms with poor prognosis. Although several genes mapping at chromosome 7 have been involved in pathogenetic mechanisms, the -7 molecular landscape is not fully elucidated. Using …

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Epigenetic Modeling of Jumping Translocations of 1q Heterochromatin in Acute Myeloid Leukemia After 5'‐Azacytidine Treatment

Anair Graciela Lema Fernandez, Carlotta Nardelli, Valentina Pierini, Barbara Crescenzi et autres

Jumping translocations (JT) are rare cytogenetic abnormalities associated with progression in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Typically, a tri-tetra-somic 1q chromosome is translocated to two or more recipient chromosomes. In multiple myeloma JT were shown to originate after DNA …

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Preferential Use of Coagulation Pathways Differs between Classical Myeloproliferative Neoplasms: Results of Global Coagulation Assays with Respect to Clinical and Genetic Features

Alessandro Lucchesi, Roberta Napolitano, Maria Teresa Bochicchio, Giorgia Simonetti et autres

Introduction Classical Myeloproliferative Neoplasms (MPN) are hematopoietic stem cell diseases characterized by inflammation, promotion of atherosclerosis, hypercoagulability, fibrosis, and clonal evolution. Our previous studies led us to the construction of a model, called "the circulating wound", for the likely exploitation of tissue …

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P739: THE EPI-GENOMIC LANDSCAPE OF MONOSOMY 7 IN ADULT MDS/AML

Anair Graciela Lema Fernandez, Carlotta Nardelli, Valeria Di Battista, Martina Quintini et autres

Background: Monosomy 7 is one of the most frequent aneuploidies in myeloid malignancies often occurring in the context of high-risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) and associated to poor prognosis. Despite several studies have focused on the pathogenetic role …

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Understanding Aberrant Signaling to Elude Therapy Escape Mechanisms in Myeloproliferative Neoplasms

Maria Teresa Bochicchio, Valeria Di Battista, Pietro Poggio, Giovanna Carrà et autres

Aberrant signaling in myeloproliferative neoplasms may arise from alterations in genes coding for signal transduction proteins or epigenetic regulators. Both mutated and normal cells cooperate, altering fragile balances in bone marrow niches and fueling persistent inflammation through paracrine or systemic signals. Despite …

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Germline GATA2 variant disrupting endothelial eNOS function and angiogenesis can be restored by c-Jun/AP-1 upregulation

Giulio Purgatorio, Elisa Piselli, Giuseppe Guglielmini, Emanuela Falcinelli et autres

GATA2 is a transcription factor with key roles in hematopoiesis. Germline GATA2 gene variants have been associated with several inherited and acquired hematologic disorders, including myelodysplastic syndromes. Among the spectrum of GATA2 deficiency- associated manifestations thrombosis has been reported in 25% of …

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Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review

Valeria Di Battista, Maria Teresa Bochicchio, Giulio Giordano, Mariasanta Napolitano et autres

The last decade has been very important for the quantity of preclinical information obtained regarding chronic myeloproliferative neoplasms (MPNs) and the following will be dedicated to the translational implications of the new biological acquisitions. The overcoming of the mechanistic model of clonal …

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Oral high-dose sucrosomial iron vs intravenous iron in sideropenic anemia patients intolerant/refractory to iron sulfate: a multicentric randomized study

Giulio Giordano, Mariasanta Napolitano, Valeria Di Battista, Alessandro Lucchesi

Iron deficiency anemia is among the most frequent causes of disability. Intravenous iron is the quickest way to correct iron deficiency, bypassing the bottleneck of iron intestinal absorption, the only true mechanism of iron balance regulation in human body. Intravenous iron administration …

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Pomalidomide-Dexamethasone in the Management of Heavily Pretreated Multiple Myeloma

Claudio Cerchione, Lucio Catalano, Davide Nappi, Anna Emanuele Pareto et autres

Background Pomalidomide is a new generation IMID, with a very good compliance, thanks to oral administration, which can be used also in heavily pretreated patients, in a domestic setting. Aims In this retrospective observational trial, It has been evaluated efficacy and tolerance …

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A novel mutation of indoleamine 2,3-dioxygenase 1 causes a rapid proteasomal degradation and compromises protein function

Giada Mondanelli, Valeria Di Battista, Fabrizia Pellanera, Andrea Mammoli et autres

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Activating somatic and germline TERT promoter variants in myeloid malignancies

Valeria Nofrini, Caterina Matteucci, Fabrizia Pellanera, Paolo Gorello et autres

TERT gene is encoding for the telomerase enzyme catalytic subunit, which maintains genomic integrity through de novo synthesis of telomere repeats at chromosome ends. It is active in stem and germinal cells, thus sustaining physiological replication [ 1 ]. TERT is silenced …

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Aplastic Anemia and Good Syndrome in a Heavily Treated Stage IV Thymoma Patient: A Case Report and Review of the Literature

Sofia Chiatamone Ranieri, Stefania Trasarti, Maria Antonietta Arleo, Luisa Bizzoni et autres

Thymoma is an uncommon slowly growing neoplasm. It usually presents with paraneoplastic syndromes including the immunodeficiency syndrome called Good syndrome and hematological disorders. Pure red cell aplasia is a well-recognized complication of thymoma, and aplastic anemia is very rare in association with …

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