4.7 Letter

Blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia: a shared clonal origin

Journal

LEUKEMIA
Volume 31, Issue 5, Pages 1238-1240

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/leu.2017.38

Keywords

-

Ask authors/readers for more resources

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

Review Oncology

IDH1/IDH2 Inhibition in Acute Myeloid Leukemia

Claudio Cerchione, Alessandra Romano, Naval Daver, Courtney DiNardo, Elias Joseph Jabbour, Marina Konopleva, Farhad Ravandi-Kashani, Tapan Kadia, Maria Paola Martelli, Alessandro Isidori, Giovanni Martinelli, Hagop Kantarjian

Summary: The discovery of mutated isoforms 1 and 2 mutations of isocitrate dehydrogenases (IDH) 1 and 2 has led to the development of individualized treatment strategy in approximately 20% of patients with acute myeloid leukemia (AML). Targeting IDH to promote differentiation and maturation of malignant clone is an emerging strategy in AML, and small molecule inhibitors have shown promising efficacy in phase I/II trials. The contribution of IDH1/IDH2 mutations in leukemogenesis and progress of targeted therapeutics in AML is highlighted in this review.

FRONTIERS IN ONCOLOGY (2021)

Article Health Care Sciences & Services

Fatigue in newly diagnosed acute myeloid leukaemia: general population comparison and predictive factors

Laura B. Oswald, Adriano Venditti, David Cella, Francesco Cottone, Anna Candoni, Lorella Melillo, Roberto Cairoli, Gabriella Storti, Prassede Salutari, Mario Luppi, Francesco Albano, Maria Paola Martelli, Antonio Cuneo, Agostino Tafuri, Silvia Maria Trisolini, Alessia Tieghi, Paola Fazi, Marco Vignetti, Fabio Efficace

Summary: This study found that patients newly diagnosed with AML reported more severe fatigue compared to the general population, with mean differences exceeding the clinical significance threshold. Factors associated with higher pretreatment fatigue levels included female sex, WHO performance status >= 1, and lower platelet levels.

BMJ SUPPORTIVE & PALLIATIVE CARE (2021)

Article Hematology

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Ayala Tovy, Carina Rosas, Amos S. Gaikwad, Geraldo Medrano, Linda Zhang, Jaime M. Reyes, Yung-Hsin Huang, Tastuhiko Arakawa, Kristen Kurtz, Shannon E. Conneely, Anna G. Guzman, Rogelio Aguilar, Anne Gao, Chun-Wei Chen, Jean J. Kim, Melissa T. Carter, Amaia Lasa-Aranzasti, Irene Valenzuela, Lionel Van Maldergem, Lorenzo Brunetti, M. John Hicks, Andrea N. Marcogliese, Margaret A. Goodell, Rachel E. Rau

Summary: This study reveals the impact of DNMT3A mutations on hematopoiesis in TBRS, including changes in blood parameters, alterations in DNA methylation landscape, and potential occurrence of malignancies. This has important clinical implications for the treatment of TBRS patients and DNMT3A-associated hematological disorders.

HAEMATOLOGICA (2022)

Article Oncology

Systematic Profi ling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor

Yung-Hsin Huang, Chun-Wei Chen, Venkatasubramaniam Sundaramurthy, Mikolaj Slabicki, Dapeng Hao, Caroline J. Watson, Ayala Tovy, Jaime M. Reyes, Olga Dakhova, Brielle R. Crovetti, Christina Galonska, Minjung Lee, Lorenzo Brunetti, Yubin Zhou, Katrina Tatton-Brown, Yun Huang, Xiaodong Cheng, Alexander Meissner, Peter J. M. Valk, Lionel Van Maldergem, Mathijs A. Sanders, Jamie R. Blundell, Wei Li, Benjamin L. Ebert, Margaret A. Goodell

Summary: This study systematically investigated the methyltransferase activity and protein stability of disease-associated DNMT3A mutations and found that 74% of them were loss-of-function mutations. Half of these mutations exhibited reduced protein stability and were correlated with greater clonal expansion and acute myeloid leukemia development. The study also discovered a regulated destruction mechanism of DNMT3A mediated by the DCAF8 E3 ubiquitin ligase adaptor.

CANCER DISCOVERY (2022)

Article Hematology

Modeling IKZF1 lesions in B-ALL reveals distinct chemosensitivity patterns and potential therapeutic vulnerabilities

Jason H. Rogers, Rohit Gupta, Jaime M. Reyes, Michael C. Gundry, Geraldo Medrano, Anna Guzman, Rogelio Aguilar, Shannon E. Conneely, Tidie Song, Cade Johnson, Sean Barnes, Carlo D. D. Cristobal, Kristen Kurtz, Lorenzo Brunetti, Margaret A. Goodell, Rachel E. Rau

Summary: The study utilized CRISPR/Cas9 strategies to validate the drug resistance of IKZF1 abnormalities in B-cell acute lymphoblastic leukemia. It was found that IKZF1 knockout cells displayed relative resistance to several common therapies, and transcription profiling revealed changes in cell phenotype and the JAK/STAT signaling pathway after IKAROS loss.

BLOOD ADVANCES (2021)

Article Oncology

Prevalence and Prognostic Role of IDH Mutations in Acute Myeloid Leukemia: Results of the GIMEMA AML1516 Protocol

Monica Messina, Alfonso Piciocchi, Tiziana Ottone, Stefania Paolini, Cristina Papayannidis, Federica Lessi, Nicola Stefano Fracchiolla, Fabio Forghieri, Anna Candoni, Andrea Mengarelli, Maria Paola Martelli, Adriano Venditti, Angelo Michele Carella, Francesco Albano, Valentina Mancini, Bernardi Massimo, Valentina Arena, Valeria Sargentini, Mariarita Sciume, Domenico Pastore, Elisabetta Todisco, Giovanni Roti, Sergio Siragusa, Marco Ladetto, Stefano Pravato, Eleonora De Bellis, Giorgia Simonetti, Giovanni Marconi, Claudio Cerchione, Paola Fazi, Marco Vignetti, Sergio Amadori, Giovanni Martinelli, Maria Teresa Voso

Summary: IDH1/2 mutations are common in acute myeloid leukemia (AML) and represent a therapeutic target. The GIMEMA AML1516 observational protocol confirms that IDH1/2 mutations are frequently detected at diagnosis and emphasizes the importance of recognizing IDH1/2-mutated cases up-front to offer the most appropriate therapeutic strategy, given the availability of IDH1/2 inhibitors. In the subset of IDH1/2-mutated patients, complete remission achievement rate and overall survival at 2 years were similar to IDH1/2-WT patients.

CANCERS (2022)

Article Biochemistry & Molecular Biology

SiCoDEA: A Simple, Fast and Complete App for Analyzing the Effect of Individual Drugs and Their Combinations

Giulio Spinozzi, Valentina Tini, Alessio Ferrari, Ilaria Gionfriddo, Roberta Ranieri, Francesca Milano, Sara Pierangeli, Serena Donnini, Federica Mezzasoma, Serenella Silvestri, Brunangelo Falini, Maria Paola Martelli

Summary: Drug combination administration is widely used for the treatment of various pathologies. The importance lies in studying the synergy, antagonism, or additivity of specific combinations. SiCoDEA is an easy-to-use tool for analyzing drug combination data with various models.

BIOMOLECULES (2022)

Article Pharmacology & Pharmacy

From Serendipity to Rational Identification of the 5,6,7,8-Tetrahydrobenzo[4,5]thieno[2,3-d]pyrimidin-4(3H)-one Core as a New Chemotype of AKT1 Inhibitors for Acute Myeloid Leukemia

Andrea Astolfi, Francesca Milano, Deborah Palazzotti, Jose Brea, Maria Chiara Pismataro, Mariangela Morlando, Oriana Tabarrini, Maria Isabel Loza, Serena Massari, Maria Paola Martelli, Maria Letizia Barreca

Summary: This study aims to find novel anti-leukemia drugs. The compound T126 has been identified as a potent AKT1 inhibitor, showing significant effects on growth inhibition and induction of apoptosis in AML cells. This lays the foundation for future development of new AKT1 inhibitors as therapeutic drugs for leukemia.

PHARMACEUTICS (2022)

Article Hematology

Comparison of the International Consensus and 5th WHO edition classifications of adult myelodysplastic syndromes and acute myeloid leukemia

Brunangelo Falini, Maria Paola Martelli

Summary: The WHO classification of lympho-hemopoietic neoplasms in 2001, 2008, and 2016 has served as the international standard for diagnosis, but significant advancements have been made in myeloid neoplasms since the 4th WHO edition. This has led to the development of the International Consensus Classification (ICC) and the 5th edition of the WHO classification (WHO-HAEM5). This paper reviews and compares these two classifications, focusing on adult myelodysplastic syndromes/neoplasms (MDS) and acute myeloid leukemia (AML), with the aim of providing a useful tool for pathologists, hematologists, and researchers involved in the diagnosis and treatment of these hematological malignancies.

AMERICAN JOURNAL OF HEMATOLOGY (2023)

Editorial Material Hematology

Mutant NPM1: Nuclear export and the mechanism of leukemogenesis

Brunangelo Falini, Maria Paola Martelli, Lorenzo Brunetti

AMERICAN JOURNAL OF HEMATOLOGY (2023)

Editorial Material Hematology

Myelodysplastic/myeloproliferative neoplasm with neutrophilia (atypical chronic myeloid leukemia-aCML)

Giovanni Martino, Martina Quintini, Maria Paola Martelli, Stefano Ascani, Stefano Lazzi, Cristina Mecucci

AMERICAN JOURNAL OF HEMATOLOGY (2023)

Letter Hematology

The NPM1 mutant defines AML irrespective of blast count

Brunangelo Falini, Maria Paola Martelli, Lorenzo Brunetti, Bjorn T. Gjertsen, Vibeke Andresen

AMERICAN JOURNAL OF HEMATOLOGY (2023)

Article Biochemistry & Molecular Biology

Blinatumomab Redirects Donor Lymphocytes against CD19+ Acute Lymphoblastic Leukemia without Relevant Bystander Alloreactivity after Haploidentical Hematopoietic Stem Cell Transplantation

Antonella Mancusi, Francesco Zorutti, Loredana Ruggeri, Samanta Bonato, Sara Tricarico, Tiziana Zei, Roberta Iacucci Ostini, Valerio Viglione, Rebecca Sembenico, Sofia Sciabolacci, Valeria Cardinali, Massimo Fabrizio Martelli, Cristina Mecucci, Alessandra Carotti, Maria Paola Martelli, Andrea Velardi, Antonio Pierini

Summary: This study demonstrates the feasibility of using blinatumomab and DLI to treat relapses after Treg/Tcon haploidentical HSCT, and suggests that their preemptive use could improve efficacy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Review Hematology

How I diagnose and treat NPM1-mutated AML

Brunangelo Falini, Lorenzo Brunetti, Maria Paola Martelli

Summary: Mutations of the nucleophosmin (NPM1) gene play a crucial role in adult acute myeloid leukemia (AML), with unique molecular, pathological, and clinical features. Accurate diagnosis and distinction of NPM1-mutated AML from other entities is important for guiding treatment decisions and assessing relapse risk. Monitoring measurable residual disease (MRD) using NPM1 mutations can provide valuable insights for therapeutic management after remission.

BLOOD (2021)

Article Oncology

Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in acute erythroid leukemia onset in mice

Paolo Sportoletti, Daniele Sorcini, Anna G. Guzman, Jaime M. Reyes, Arianna Stella, Andrea Marra, Sara Sartori, Lorenzo Brunetti, Roberta Rossi, Beatrice Del Papa, Francesco Maria Adamo, Giulia Pianigiani, Camilla Betti, Annarita Scialdone, Valerio Guarente, Giulio Spinozzi, Valentina Tini, Maria Paola Martelli, Margaret A. Goodell, Brunangelo Falini

Summary: Recurrent loss-of-function mutations of the BCOR gene are associated with poor prognosis in AML patients, leading to the creation of a mouse model to study this AML genotype. Double knockout mice showed features of acute erythroid leukemia, suggesting potential efficacy of demethylating agents in AEL treatment.

LEUKEMIA (2021)

No Data Available