Giovanni Cazzaniga
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View article: A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications
A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications Open
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. Telomere biology disorders can also manifest with systemic features such as bone marro…
View article: A multi-dimensional approach to recognize genetic predisposition in children with acute lymphoblastic leukemia
A multi-dimensional approach to recognize genetic predisposition in children with acute lymphoblastic leukemia Open
View article: A Novel Rtel1 Nonsense Variant in a Case of Familial Pulmonary Fibrosis
A Novel Rtel1 Nonsense Variant in a Case of Familial Pulmonary Fibrosis Open
Background Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. Case presentation We report a 72-year-old woman with a family history of pu…
View article: HDAC7 induction combined with standard-of-care chemotherapy provides a therapeutic advantage in t(4;11) infant B-cell acute lymphoblastic leukemia
HDAC7 induction combined with standard-of-care chemotherapy provides a therapeutic advantage in t(4;11) infant B-cell acute lymphoblastic leukemia Open
View article: First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases
First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases Open
Despite advances in diagnostics, children with rare genetic disorders still face extended diagnostic odysseys, delaying appropriate clinical management, and placing burdens on families and healthcare resources. Whole‐genome sequencing (WGS…
View article: Next Generation Sequencing Identifies Subgroups of Patients With Triple Negative Primary Thrombocytosis With Different Clinical Thrombotic Outcomes
Next Generation Sequencing Identifies Subgroups of Patients With Triple Negative Primary Thrombocytosis With Different Clinical Thrombotic Outcomes Open
Introduction The majority of patients with essential thrombocythemia (ET) show somatic mutations of JAK2, CALR , or MPL . Around 10% of cases lack these mutations (“triple negative” ET, TN‐ET). Additionally, some patients with bona fide “p…
View article: Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition Open
The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorde…
View article: Donor-derived CARCIK-CD19 cells engineered with Sleeping Beauty transposon in acute lymphoblastic leukemia relapsed after allogeneic transplantation
Donor-derived CARCIK-CD19 cells engineered with Sleeping Beauty transposon in acute lymphoblastic leukemia relapsed after allogeneic transplantation Open
View article: PAX5::AUTS2 childhood B-ALL: a relapse-prone genetic subtype with frequent central nervous system involvement and a poor outcome
PAX5::AUTS2 childhood B-ALL: a relapse-prone genetic subtype with frequent central nervous system involvement and a poor outcome Open
View article: Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation
Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation Open
View article: Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation
Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation Open
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the poss…
View article: NG2 is a target gene of MLL-AF4 and underlies glucocorticoid resistance in MLLr B-ALL by regulating NR3C1 expression
NG2 is a target gene of MLL-AF4 and underlies glucocorticoid resistance in MLLr B-ALL by regulating NR3C1 expression Open
B-cell acute lymphoblastic leukemia (B-ALL) is the most common pediatric cancer, with long-term overall survival rates of ∼85%. However, B-ALL harboring rearrangements of the MLL gene (also known as KMT2A), referred to as MLLr B-ALL, is co…
View article: Synergistic drug interactions of the histone deacetylase inhibitor givinostat (ITF2357) in CRLF2-rearranged pediatric B-cell precursor acute lymphoblastic leukemia identified by high-throughput drug screening
Synergistic drug interactions of the histone deacetylase inhibitor givinostat (ITF2357) in CRLF2-rearranged pediatric B-cell precursor acute lymphoblastic leukemia identified by high-throughput drug screening Open
View article: The gray area of RQ-PCR-based measurable residual disease: subdividing the “positive, below quantitative range” category
The gray area of RQ-PCR-based measurable residual disease: subdividing the “positive, below quantitative range” category Open
View article: Analysis of measurable residual disease by IG/TR gene rearrangements: quality assurance and updated EuroMRD guidelines
Analysis of measurable residual disease by IG/TR gene rearrangements: quality assurance and updated EuroMRD guidelines Open
View article: First-hit <i>SETBP1</i> mutations cause a myeloproliferative disorder with bone marrow fibrosis
First-hit <i>SETBP1</i> mutations cause a myeloproliferative disorder with bone marrow fibrosis Open
SETBP1 mutations are found in various clonal myeloid disorders. However, it is unclear whether they can initiate leukemia, because SETBP1 mutations typically appear as later events during oncogenesis. To answer this question, we generated …
View article: Idiopathic erythrocytosis: a germline disease?
Idiopathic erythrocytosis: a germline disease? Open
Polycythemia Vera (PV) is typically caused by V617F or exon 12 JAK2 mutations. Little is known about Polycythemia cases where no JAK2 variants can be detected, and no other causes identified. This condition is defined as idiopathic erythro…
View article: Functional relevance of circRNA aberrant expression in pediatric acute leukemia with <i>KMT2A</i>::<i>AFF1</i> fusion
Functional relevance of circRNA aberrant expression in pediatric acute leukemia with <i>KMT2A</i>::<i>AFF1</i> fusion Open
Circular RNAs (circRNAs) are emerging molecular players in leukemogenesis and promising therapeutic targets. In KMT2A::AFF1 (MLL::AF4)-rearranged leukemia, an aggressive disease compared with other pediatric B-cell precursor (BCP) acute ly…
View article: First-Hit SETBP1 Mutations Cause a Myeloproliferative Disorder with Bone Marrow Fibrosis
First-Hit SETBP1 Mutations Cause a Myeloproliferative Disorder with Bone Marrow Fibrosis Open
Somatic SETBP1 mutations are found in various myeloid disorders covering both myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS). To characterize the early steps of SETBP1-mediated leukemogenesis, we generated a conditi…
View article: Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations Open
View article: P1056: NEXT GENERATION SEQUENCING IDENTIFIES SUBGROUPS OF PATIENTS WITH TRIPLE NEGATIVE/ PRIMARY THROMBOCYTOSIS WITH DIFFERENT CLINICAL OUTCOMES
P1056: NEXT GENERATION SEQUENCING IDENTIFIES SUBGROUPS OF PATIENTS WITH TRIPLE NEGATIVE/ PRIMARY THROMBOCYTOSIS WITH DIFFERENT CLINICAL OUTCOMES Open
Topic: 16. Myeloproliferative neoplasms - Clinical Background: The majority of patients (pts) with essential thrombocythemia (ET) show somatic mutations of JAK2 (V617F or exon 12), CALR or MPL genes. However, in a proportion of cases there…
View article: P337: IKZF1 DELETIONS IN B-ALL: FROM ITS GENETIC BASIS TO DIAGNOSTIC ENHANCEMENT
P337: IKZF1 DELETIONS IN B-ALL: FROM ITS GENETIC BASIS TO DIAGNOSTIC ENHANCEMENT Open
Background:IKZF1 deletions are associated with an increased risk of relapse in patients with B-cell precursor acute lymphoblastic leukemia (B-ALL), and their accurate detection has great clinical impact. Aims: We illustrate the recombinati…
View article: P325: APPLICATIONS OF HIGH-THROUGHPUT DRUG SCREENING AS DRUG REPURPOSING STRATEGY FOR POOR OUTCOME SUBGROUPS OF PEDIATRIC B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA
P325: APPLICATIONS OF HIGH-THROUGHPUT DRUG SCREENING AS DRUG REPURPOSING STRATEGY FOR POOR OUTCOME SUBGROUPS OF PEDIATRIC B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA Open
Background: 15% of pediatric ALL patients are unresponsive to conventional chemotherapy and relapse, raising the need for novel therapeutic schemes. Preclinical high-through put (HTP) drug screening enables monitoring of personalized respo…
View article: Posttreatment positivity of <i>BCR::ABL1</i> in acute lymphoblastic leukemia: Should we keep track?
Posttreatment positivity of <i>BCR::ABL1</i> in acute lymphoblastic leukemia: Should we keep track? Open
We read with a great interest the paper focused on different minimal residual disease (MRD) approaches and its significance in Ph+ acute lymphoblastic leukemia (ALL) patients, authored by Short et al. from the MD Anderson Cancer Center.1 W…
View article: Hematopoietic Stem Cell (HSC)-Independent Progenitors Are Susceptible to Mll-Af9-Induced Leukemic Transformation
Hematopoietic Stem Cell (HSC)-Independent Progenitors Are Susceptible to Mll-Af9-Induced Leukemic Transformation Open
Infant acute myeloid leukemia (AML) is a heterogeneous disease, genetically distinct from its adult counterpart. Chromosomal translocations involving the KMT2A gene (MLL) are especially common in affected infants of less than 1 year of age…
View article: Definition and Prognostic Value of Ph-like and IKZF1plus Status in Children With Down Syndrome and B-cell Precursor Acute Lymphoblastic Leukemia
Definition and Prognostic Value of Ph-like and IKZF1plus Status in Children With Down Syndrome and B-cell Precursor Acute Lymphoblastic Leukemia Open
Children with Down syndrome have an augmented risk for B-cell acute lymphoblastic leukemia (DS-ALL), which is associated with lower survival than in non-DS-ALL. It is known that cytogenetic abnormalities common in childhood ALL are less fr…
View article: The EGR3 regulome of infant KMT2A-r acute lymphoblastic leukemia identifies differential expression of B-lineage genes predictive for outcome
The EGR3 regulome of infant KMT2A-r acute lymphoblastic leukemia identifies differential expression of B-lineage genes predictive for outcome Open
View article: The KMT2A recombinome of acute leukemias in 2023
The KMT2A recombinome of acute leukemias in 2023 Open
View article: Supplementary Methods; Supplementary Figures S1-S6; and Supplementary Tables S1-S4 from Antileukemic Efficacy of BET Inhibitor in a Preclinical Mouse Model of MLL-AF4<sup>+</sup> Infant ALL
Supplementary Methods; Supplementary Figures S1-S6; and Supplementary Tables S1-S4 from Antileukemic Efficacy of BET Inhibitor in a Preclinical Mouse Model of MLL-AF4<sup>+</sup> Infant ALL Open
Supplementary Methods: provide additional information about the methods used in the present study; Supplementary Figure S1: refers to apoptosis analysis of patients-derived xenograft samples exposed to IBET151 ex vivo; Supplementary Figure…
View article: Data from Cytoskeletal Regulatory Gene Expression and Migratory Properties of B-cell Progenitors Are Affected by the ETV6–RUNX1 Rearrangement
Data from Cytoskeletal Regulatory Gene Expression and Migratory Properties of B-cell Progenitors Are Affected by the ETV6–RUNX1 Rearrangement Open
Although the ETV6–RUNX1 fusion is a frequent initiating event in childhood leukemia, its role in leukemogenesis is only partly understood. The main impact of the fusion itself is to generate and sustain a clone of clinically silent preleuk…