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1. Spotlight on G-Quadruplexes: From Structure and Modulation to Physiological and Pathological Roles

Author

Dell'Oca, M, Quadri, R, Bernini, G, Menin, L, Grasso, L, Rondelli, D, Yazici, O, Sertic, S, Marini, F, Pellicioli, A, Muzi-Falconi, M, Lazzaro, F, Dell'Oca M. C., Quadri R., Bernini G. M., Menin L., Grasso L., Rondelli D., Yazici O., Sertic S., Marini F., Pellicioli A., Muzi-Falconi M., Lazzaro F., Dell'Oca, M, Quadri, R, Bernini, G, Menin, L, Grasso, L, Rondelli, D, Yazici, O, Sertic, S, Marini, F, Pellicioli, A, Muzi-Falconi, M, Lazzaro, F, Dell'Oca M. C., Quadri R., Bernini G. M., Menin L., Grasso L., Rondelli D., Yazici O., Sertic S., Marini F., Pellicioli A., Muzi-Falconi M., and Lazzaro F.

Abstract

G-quadruplexes or G4s are non-canonical secondary structures of nucleic acids characterized by guanines arranged in stacked tetraplex arrays. Decades of research into these peculiar assemblies of DNA and RNA, fueled by the development and optimization of a vast array of techniques and assays, has resulted in a large amount of information regarding their structure, stability, localization, and biological significance in native systems. A plethora of articles have reported the roles of G-quadruplexes in multiple pathways across several species, ranging from gene expression regulation to RNA biogenesis and trafficking, DNA replication, and genome maintenance. Crucially, a large amount of experimental evidence has highlighted the roles of G-quadruplexes in cancer biology and other pathologies, pointing at these structurally unique guanine assemblies as amenable drug targets. Given the rapid expansion of this field of research, this review aims at summarizing all the relevant aspects of G-quadruplex biology by combining and discussing results from seminal works as well as more recent and cutting-edge experimental evidence. Additionally, the most common methodologies used to study G4s are presented to aid the reader in critically interpreting and integrating experimental data.

Published
2024

3. Continuous and differential improvement in worldwide access to hematopoietic cell transplantation: activity has doubled in a decade with a notable increase in unrelated and non-identical related donors.

Author

Atsuta, Y, Baldomero, H, Neumann, D, Sureda, A, DeVos, JD, Iida, M, Karduss, A, Purtill, D, Elhaddad, AM, Bazuaye, NG, Bonfim, C, De la Camara, R, Chaudhri, NA, Ciceri, F, Correa, C, Frutos, C, Galeano, S, Garderet, L, Gonzalez-Ramella, O, Greco, R, Hamad, N, Hazenberg, MD, Horowitz, MM, Kalwak, K, Ko, B-S, Kodera, Y, Koh, MB, Liu, K, McLornan, DP, Moon, JH, Neven, B, Okamoto, S, Pasquini, MC, Passweg, JR, Paulson, K, Rondelli, D, Ruggeri, A, Seber, A, Snowden, JA, Srivastava, A, Szer, J, Weisdorf, D, Worel, N, Greinix, H, Saber, W, Aljurf, M, Niederwieser, D, Atsuta, Y, Baldomero, H, Neumann, D, Sureda, A, DeVos, JD, Iida, M, Karduss, A, Purtill, D, Elhaddad, AM, Bazuaye, NG, Bonfim, C, De la Camara, R, Chaudhri, NA, Ciceri, F, Correa, C, Frutos, C, Galeano, S, Garderet, L, Gonzalez-Ramella, O, Greco, R, Hamad, N, Hazenberg, MD, Horowitz, MM, Kalwak, K, Ko, B-S, Kodera, Y, Koh, MB, Liu, K, McLornan, DP, Moon, JH, Neven, B, Okamoto, S, Pasquini, MC, Passweg, JR, Paulson, K, Rondelli, D, Ruggeri, A, Seber, A, Snowden, JA, Srivastava, A, Szer, J, Weisdorf, D, Worel, N, Greinix, H, Saber, W, Aljurf, M, and Niederwieser, D

Abstract

Promoting access to and excellence in hematopoietic cell transplantation (HCT) by collecting and disseminating data on global HCT activities is one of the principal activities of the Worldwide Network for Blood and Marrow Transplantation, a non-Governmental organization in working relations with the World Health Organization. HCT activities are recorded annually by member societies, national registries and individual centers including indication, donor type (allogeneic/autologous), donor match and stem cell source (bone marrow/peripheral blood stem cells/cord blood). In 2018, 1,768 HCT teams in 89 countries (six WHO regions) reported 93,105 (48,680 autologous and 44,425 allogeneic) HCT. Major indications were plasma cell disorders and lymphoma for autologous, and acute leukemias and MDS/MPN for allogeneic HCT. HCT number increased from 48,709 in 2007. Notable increases were seen for autoimmune diseases in autologous and hemoglobinopathies in allogeneic HCT. The number of allogeneic HCT more than doubled with significant changes in donor match. While HCT from HLA identical siblings has seen only limited growth, HCT from non-identical related donors showed significant increase worldwide. Strongest correlation between economic growth indicator of gross national income/capita and HCT activity/ten million population was observed for autologous HCT (r=0.79). HCT from unrelated donors showed strong correlation (r=0.68), but only moderate correlation (r=0.51) was detected from related donors. The use of HCT doubled in about a decade worldwide at different speed and with significant changes regarding donor match as a sign of improved access to HCT worldwide. Although narrowing, significant gaps remain between developing and non-developing countries.

Published
2024

4. A prospective evaluation of pegylated interferon alfa-2a therapy in patients with polycythemia vera and essential thrombocythemia with a prior splanchnic vein thrombosis

Author

Mascarenhas, J., Kosiorek, H., Prchal, J., Yacoub, A., Berenzon, D., Baer, M. R., Ritchie, E., Silver, R. T., Kessler, C., Winton, E., Finazzi, M. C., Rambaldi, A., Vannucchi, A. M., Leibowitz, D., Rondelli, D., Arcasoy, M. O., Catchatourian, R., Vadakara, J., Rosti, V., Hexner, E., Kremyanskaya, M., Sandy, L., Tripodi, J., Najfeld, V., Farnoud, N., Salama, M. E., Weinberg, R. S., Rampal, R., Goldberg, J. D., Mesa, R., Dueck, A. C., and Hoffman, R.

Published
2019
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6. 5612617 EFFICACY AND SAFETY OF A SINGLE DOSE OF EXAGAMGLOGENE AUTOTEMCEL FOR TRANSFUSION-DEPENDENT-THALASSEMIA AND SEVERE SICKLE CELL DISEASE

Author

de la Fuente, J., primary, Locatelli, F., additional, Frangoul, H., additional, Corbacioglu, S., additional, Wall, D., additional, Cappellini, M., additional, de Montalembert, M., additional, Kattamis, A., additional, Lobitz, S., additional, Rondelli, D., additional, Sheth, S., additional, Steinberg, M., additional, Walters, M., additional, Bobruff, Y., additional, Simard, C., additional, Song, Y., additional, Zhang, L., additional, Sharma, A., additional, Imren, S., additional, Hobbs, B., additional, and Grupp, S., additional

Published
2023
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8. Indication and management of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group

Author

Kröger, N M, Deeg, J H, Olavarria, E, Niederwieser, D, Bacigalupo, A, Barbui, T, Rambaldi, A, Mesa, R, Tefferi, A, Griesshammer, M, Gupta, V, Harrison, C, Alchalby, H, Vannucchi, A M, Cervantes, F, Robin, M, Ditschkowski, M, Fauble, V, McLornan, D, Ballen, K, Popat, U R, Passamonti, F, Rondelli, D, and Barosi, G

Published
2015
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12. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia

Author

Frangoul, H. Altshuler, D. Cappellini, M.D. Chen, Y.-S. Domm, J. Eustace, B.K. Foell, J. De La Fuente, J. Grupp, S. Handgretinger, R. Ho, T.W. Kattamis, A. Kernytsky, A. Lekstrom-Himes, J. Li, A.M. Locatelli, F. Mapara, M.Y. De Montalembert, M. Rondelli, D. Sharma, A. Sheth, S. Soni, S. Steinberg, M.H. Wall, D. Yen, A. Corbacioglu, S.

Subjects
hemic and lymphatic diseases
Abstract

Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are the most common inherited hematologic disorders, affecting approximately 60,000 and 300,000 patients worldwide, respectively. Current therapies, including red blood cell (RBC) transfusion and iron chelation in TDT and transfusion, pain management, and hydroxyurea in SCD, help to manage the disorders but do not address the underlying cause. Drug therapies, such as crizanlizumab and luspatercept, have also helped to reduce the need for transfusion in TDT patients and the incidence of vaso-occlusive episodes in SCD patients. Allogeneic bone marrow transplantationmay be a curative option, but finding an appropriate donor is difficult. An association has been observed between elevated levels of fetal hemoglobin and improved morbidity and mortality in these patients. Downregulating BCL11A, a transcription factor that blocks fetal hemoglobin in erythroid cells, may help to increase fetal hemoglobin levels and improve outcomes. Using the CRISPR-Cas9 gene-editing technique, CTX001, an investigational drug, was infused in 2 patients. This article describes the results of infusing CTX001 in 1 patient with TDT and another with SCD. © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Published
2021

13. Worldwide Network for Blood and Marrow Transplantation (WBMT) Recommendations Regarding Essential Medications Required To Establish An Early Stage Hematopoietic Cell Transplantation Program

Author

El Fakih, R, Greinix, H, Koh, M, Shaw, B, Mohty, M, Al Nahedh, M, Saber, W, Kharfan-Dabaja, MA, Perales, M-A, Savani, BN, Majhail, NS, Passweg, JR, Sureda, A, Ahmed, SO, Gluckman, E, Riches, M, El-Jawahri, A, Rondelli, D, Srivastava, A, Faulkner, L, Atsuta, Y, Ballen, KK, Rasheed, W, Okamoto, S, Seber, A, Chao, N, Kroeger, N, Kodera, Y, Szer, J, Hashmi, SK, Horowitz, MM, Weisdorf, D, Niederwieser, D, Aljurf, M, El Fakih, R, Greinix, H, Koh, M, Shaw, B, Mohty, M, Al Nahedh, M, Saber, W, Kharfan-Dabaja, MA, Perales, M-A, Savani, BN, Majhail, NS, Passweg, JR, Sureda, A, Ahmed, SO, Gluckman, E, Riches, M, El-Jawahri, A, Rondelli, D, Srivastava, A, Faulkner, L, Atsuta, Y, Ballen, KK, Rasheed, W, Okamoto, S, Seber, A, Chao, N, Kroeger, N, Kodera, Y, Szer, J, Hashmi, SK, Horowitz, MM, Weisdorf, D, Niederwieser, D, and Aljurf, M

Abstract

Establishing a hematopoietic cell transplantation (HCT) program is complex. Planning is essential while establishing such a program to overcome the expected challenges. Authorities involved in HCT program establishment will need to coordinate the efforts between the different departments required to start up the program. One essential department is pharmacy and the medications required. To help facilitate this, the Worldwide Network for Blood and Marrow Transplantation organized a structured survey to address the essential medications required to start up an HCT program. A group of senior physicians and pharmacists prepared a list of the medications used at the different phases of transplantation. These drugs were then rated by a questionnaire using a scale of necessity based on the stage of development of the transplant program. The questionnaire was sent to 30 physicians, in different parts of the world, who have between 5 and 40 years of experience in autologous and/or allogeneic transplantation. This group of experts scored each medication on a 7-point scale, ranging from an absolute requirement (score of 1) to not required (score of 7). The results are presented here to help guide the prioritization of required medications.

Published
2021

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