Publications by authors named "Matteo Dragani"
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.
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- Acute myeloid leukemia (AML) is a severe blood cancer, with around 30% of cases linked to mutations in the NPM1 gene, leading to a specific classification of NPM1-mutated AML that generally has a favorable prognosis but still faces a high relapse rate of 30-50%.
- This study explored the use of total RNA sequencing (RNAseq) to better characterize NPM1-mutated AML, revealing complex molecular variations and different clonal types that previous methods might have missed, such as abnormal fusion transcripts.
- The findings suggest that advanced technologies like RNAseq could improve risk assessment and treatment planning for patients with NPM1-mutated AML, laying the groundwork for
Article Synopsis
- VEXAS is a unique disease that combines symptoms of rheumatologic and hematologic disorders, and this study aimed to better understand its diagnosis and genetic features while tracking changes over time with different treatments.
- Researchers gathered data from various centers in Italy, finding that 41 male patients had significant mutations in the UBA1 gene, mostly diagnosed around age 67, all presenting with anemia and common rheumatologic issues like polychondritis.
- A high percentage of these patients also had myelodysplastic syndrome (MDS), showcasing diverse genetic mutations, and the study noted that after treatment like hematopoietic cell transplants, some mutations were cleared.
Article Synopsis
- A study evaluated the safety and effectiveness of nilotinib as a first-line treatment for elderly patients (over 65) with chronic phase CML across 18 Italian centers, involving 60 patients with a median age of 72.
- At three months, all patients achieved a complete hematological response, with 71.6% showing an early molecular response and 78% achieving a complete cytogenetic response.
- While most patients tolerated the standard treatment dose well, some experienced side effects, and 10% had cardiovascular events, indicating that nilotinib can be effective but requires further long-term monitoring for potential dose adjustments to optimize safety.
Article Synopsis
- The role and timing of allogeneic hematopoietic stem cell transplantation (HSCT) in treating acute myelogenous leukemia (AML) have been debated for decades, with reliance on the European LeukemiaNet classification for treatment strategies.
- A study found that HSCT significantly improved overall survival for intermediate- and poor-risk AML patients, particularly younger patients, while showing low cumulative incidence rates for older groups due to factors like comorbidities and eligibility.
- With increasing access to various donor types, including haploidentical ones, the role of HSCT in AML treatment may evolve, potentially increasing transplant numbers in adult patients.
Article Synopsis
- A study called MM-EP1 compared personalized molecular-oriented therapy to standard treatments in patients with relapsed/refractory multiple myeloma (r/r MM).
- The study involved 103 patients, revealing that those treated with molecular-oriented therapies had a slightly higher overall response rate (65%) compared to those receiving non-molecular-oriented therapies (58%).
- The results indicate the need for enhanced biomolecular techniques and better precision medicine algorithms to improve treatment outcomes in multiple myeloma.
Sequence analyses of relapsed or refractory diffuse large B-cell lymphomas unravel three genetic subgroups of patients and the GNA13 mutant as poor prognostic biomarker, results of LNH-EP1 study.
Jean-Marie Michot
,
Cyril Quivoron
,
Clémentine Sarkozy
,
Alina Danu
,
Julien Lazarovici
,
Matteo Dragani
Am J Hematol
April 2023
Article Synopsis
- This study explores the genetic subgroups of relapse or refractory diffuse large B-cell lymphoma (RR-DLBCL) to find prognostic biomarkers crucial for patient management.!* -
- Researchers analyzed tumor samples from 120 RR-DLBCL patients, with a focus on somatic mutations, identifying three distinct genetic subgroups based on mutation patterns.!* -
- Despite finding different genetic subgroups, overall survival rates were similar among them, but GNA13 mutations were linked to a higher risk of death and shorter survival times.!*
SOHO State of the Art Updates and Next Questions: IDH Inhibition.
Clin Lymphoma Myeloma Leuk
September 2021
Article Synopsis
- Recent advancements in targeted therapy for myeloid malignancies have led to the approval of new treatment agents, both for initial and challenging cases like refractory or relapsed diseases.
- The review focuses on how enasidenib and ivosidenib, which inhibit isocitrate dehydrogenase, have significantly impacted the treatment landscape for myeloid neoplasms.
- It also summarizes successful trial results that support the current use of these innovative therapies in clinical practice.
Article Synopsis
- Successful discontinuation of tyrosine kinase inhibitors (TKIs) in chronic-phase chronic myeloid leukemia (CML) patients has been achieved, highlighting the importance of careful molecular monitoring during and after treatment.
- A study of 281 CML patients in Italy showed that a significant number (75.6%) who lost major molecular response (MMR) did so within the first six months after stopping TKI treatment, emphasizing the need for timely monitoring.
- Adopting a less frequent monitoring schedule after the initial six months does not seem to negatively impact treatment-free remission (TFR) success, suggesting that patients can be safely monitored with reduced intensity over time.
Treatment-Free Remission in Chronic Myeloid Leukemia Harboring Atypical BCR-ABL1 Transcripts.
Mediterr J Hematol Infect Dis
September 2020
Article Synopsis
- Myelodysplastic syndromes (MDS) are blood disorders leading to ineffective blood cell production and increased cell death, resulting in low blood cell counts.
- Mitochondria, which manage cell energy and can accumulate iron, were studied to understand their role in the altered energy metabolism found in MDS and how factors like iron overload affect this process.
- Findings indicated that MDS patients showed reduced energy production efficiency and higher oxidative stress, but iron chelation treatment improved some biochemical abnormalities in their cells, whereas similar treatments had lesser effects on healthy individuals.
Article Synopsis
- A study found that 2% of chronic myeloid leukemia (CML) patients have atypical RNA transcripts that are hard to measure using standard techniques like real-time PCR and NESTED PCR, making it difficult to monitor their treatment responses.
- * The research introduced a highly sensitive method called droplet digital PCR (ddPCR) that can accurately quantify these atypical transcripts, even at very low levels (as low as 0.001%).
- * The findings suggest that ddPCR could help identify patients with a deep molecular response, potentially qualifying them for treatment-free remission options that were previously inaccessible due to unreliable testing.
Article Synopsis
- There is a strong connection between thymoma (a type of tumor) and pure red cell aplasia, which is well-established in research.
- Acquired amegakaryocytic thrombocytopenia, a condition that affects platelet production, is less commonly reported in relation to thymoma.
- In this case, adding eltrombopag (a medication that stimulates platelet production) to standard immunosuppressive treatment did not help the patient, likely because the tumor was not surgically removed.
Highly Sensitive Detection of Mutations in Acute Myeloid Leukemia.
Jessica Petiti
,
Valentina Rosso
,
Eleonora Croce
,
Vanessa Franceschi
,
Giacomo Andreani
,
Matteo Dragani
J Clin Med
January 2020
Article Synopsis
- Acute myeloid leukemia is a complex blood cancer with genetic variations that affect patient diagnosis and treatment monitoring; detecting mutations is crucial for assessing therapy response.* -
- This study compares the efficacy of three methods—PNA-PCR clamping, droplet digital PCR, and Sanger sequencing—in identifying mutations from DNA samples of 96 patients.* -
- Results showed that PNA-PCR clamping and digital PCR were more effective than Sanger sequencing, detecting a higher percentage of mutations and offering a cost-effective alternative for labs with limited resources.*
Article Synopsis
- A 59-year-old man with acute myeloid leukemia developed rhino-orbital-cerebral mucormycosis shortly after a stem cell transplant.
- He received prompt antifungal treatment and underwent endoscopic sinus surgery, which led to resolution of the infection.
- Monitoring the drug isavuconazole during treatment indicated a link between its plasma levels and improvement in intestinal graft-versus-host disease (GvHD), suggesting the importance of drug monitoring in similar cases.
Philadelphia-positive lymphoblastic lymphoma: a case report and review of the literature.
Stem Cell Investig
July 2019
Article Synopsis
- Philadelphia positive lymphoblastic lymphoma (LBL) is less understood than Philadelphia positive acute lymphoblastic leukemia, with only two documented cases reported in literature, both resulting in death during treatment.
- A patient treated with a unique, chemo-free regimen using dasatinib, steroids, and local radiotherapy has survived 3 years post-diagnosis, indicating a potential alternative approach.
- The diagnosis and treatment of Philadelphia positive LBL are particularly challenging due to its rarity and complexity.
Article Synopsis
- Acute myeloid leukemia (AML) patients often exhibit abnormal tyrosine kinase activity, which impacts cell signaling pathways.
- The study focuses on Sprouty1, a member of the Sprouty protein family, highlighting its significant down-regulation in AML cells compared to normal cells, with restoration observed post-chemotherapy.
- Findings suggest Sprouty1 acts as a negative regulator of cell proliferation and apoptosis in AML, with a potential link to the delocalization of FoxO3a, indicating complex regulation of RAS signaling in cancer.
Article Synopsis
- - New techniques for detecting small leukemic clones in acute leukemias and myeloproliferative disorders include digital polymerase chain reaction (dPCR), which provides precise and absolute nucleic acid quantification.
- - dPCR is particularly effective for identifying low amounts of target material, making it a strong alternative for measuring residual disease (MRD) due to its high precision and reproducibility.
- - Despite its advantages, dPCR faces challenges like higher costs compared to traditional methods, lack of standardization, and limited accessibility in laboratories, though several studies have highlighted its potential benefits in detecting leukemic mutations.