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JOURNAL ARTICLE
Hideki Makishima, Teresa Venezia Bowman, Lucy A Godley
Deleterious germline DDX41 variants confer risk for myeloid neoplasms (MNs), and less frequently to lymphoid malignancies, with autosomal dominant inheritance and an estimated prevalence of 3% among MNs. Germline DDX41 variants include truncating alleles that comprise about two thirds of all alleles; missense variants located preferentially within the DEAD box domain; and deletion variants. The identification of a truncating allele on tumor-based molecular profiling should prompt germline genetic testing, since virtually all such alleles are germline...
December 1, 2022: Blood
#2
JOURNAL ARTICLE
Irene Peris, Silvia Romero-Murillo, Elena Martínez-Balsalobre, Caroline C Farrington, Elena Arriazu, Nerea Marcotegui, Marta Jiménez-Muñoz, Cristina Alburquerque-Prieto, Andrea Torres-López, Vicente Jose Fresquet, Jose-Angel Martinez-Climent, Maria C Mateos, Maria Luisa Cayuela, Goutham Narla, Maria D Odero, Carmen Vicente
Venetoclax-combination therapies are becoming the standard-of-care in acute myeloid leukemia (AML). However, the therapeutic benefit of these drugs in older/unfit patients is limited to only a few months, highlighting the need for more effective therapies. PP2A is a tumor suppressor phosphatase with pleiotropic functions that becomes inactivated in ~70% of AML cases. PP2A promotes cancer cell death by modulating the phosphorylation state in a variety of proteins along the mitochondrial apoptotic pathway. We therefore hypothesized that pharmacological PP2A reactivation could increase BCL2 dependency in AML cells and thus potentiate venetoclax-induced cell death...
December 1, 2022: Blood
#3
JOURNAL ARTICLE
Dennis D Hickstein, Katherine R Calvo
Inherited or de novo germline heterozygous mutations in the gene encoding the transcription factor GATA2 lead to its deficiency; this results in a constellation of clinical features including infections with non-tuberculous mycobacterial, bacterial, fungal, and human papilloma virus infections, lymphedema, pulmonary alveolar proteinosis, and myelodysplasia. The onset, or even the presence, of disease is highly variable, even in kindreds with the identical mutation in GATA2. The clinical manifestations result from the loss of a multilineage progenitor which gives rise to B-lymphocytes, monocytes, Natural Killer (NK) cells and dendritic cells, leading to cytopenias of these lineages, and subsequent infections...
December 1, 2022: Blood
#4
JOURNAL ARTICLE
Guranda Chitadze, Anna Stengel, Cathrin John-Klaua, Julien Bruckmüller, Heiko Trautmann, Michaela Kotrova, Franziska Darzentas, Miriam Kelm, Karol Pal, Nikos Darzentas, Lorenz Bastian, Britta Kehden, Wiebke Wessels, Aeint-Steffen Ströh, Hans-Heinrich Oberg, Philipp M Altrock, Constance Baer, Manja Meggendorfer, Claudia Haferlach, Nicola Goekbuget, Claudia D Baldus, Monika Brüggemann
No abstract text is available yet for this article.
November 30, 2022: Blood
#5
JOURNAL ARTICLE
Christopher Maximilian Arends, Thomas G Liman, Paulina M Strzelecka, Anna Kufner, Pelle Löwe, Shufan Huo, Catarina M Stein, Sophie K Piper, Marlon Tilgner, Pia S Sperber, Savvina Dimitriou, Peter Heuschmann, Raphael Hablesreiter, Christoph Harms, Lars Bullinger, Joachim E Weber, Matthias Endres, Frederik Damm
Clonal hematopoiesis (CH) is common among older people and associated with an increased risk of atherosclerosis, inflammation, and shorter overall survival. Age and inflammation are major risk factors for ischemic stroke, yet the association of CH with risk of secondary vascular events and death is unknown. We investigated CH in peripheral blood DNA from 581 patients with first-ever ischemic stroke from the Prospective Cohort with Incident Stroke-Berlin study (PROSCIS-B) using error-corrected targeted sequencing...
November 28, 2022: Blood
#6
JOURNAL ARTICLE
Cara Morin, Akshay Sharma, Subodh Selukar, Gary Beasley, Anthony Merlocco, Chris Goode, Parul Rai, Jeffrey Allen Towbin, Jane S Hankins, Jason Nathaniel Johnson
No abstract text is available yet for this article.
November 28, 2022: Blood
#7
JOURNAL ARTICLE
Francesco Passamonti, Barbara Mora
The clinical phenotype of primary and post-polycythemia vera and post-essential thrombocythemia myelofibrosis (MF) is dominated by splenomegaly, symptomatology, a variety of blood cell alterations and a tendency to develop vascular complications and blast phase. Diagnosis requires to assess cell blood counts, bone marrow morphology, deep genetic evaluations and disease history. Driver molecular events consist of JAK2V617F mutation, CALR and MPL mutations, while about 8-10% of PMF are 'triple-negative'. Additional myeloid-gene variants are described in roughly 80% of patients...
November 23, 2022: Blood
#8
JOURNAL ARTICLE
Melissa M Berrien-Elliott, Miriam T Jacobs, Todd A Fehniger
Interest in adoptive cell therapy for treating cancer is exploding due to early clinical successes of autologous chimeric antigen receptor (CAR) T lymphocytes. However, limitations using T cells and autologous cell products are apparent as they 1) take weeks to generate, 2) utilize a 1:1 donor to patient model, 3) are expensive, and 4) are prone to heterogeneity and manufacturing failures. CAR T cells are also associated with significant toxicities, including cytokine release syndrome (CRS), immune effector cell-associated neurotoxicity syndrome (ICANS), and prolonged cytopenias...
November 23, 2022: Blood
#9
JOURNAL ARTICLE
Regina M Myers, Nirali N Shah, Michael A Pulsipher
By overcoming chemotherapeutic resistance, chimeric antigen receptor (CAR) T-cells facilitate deep complete remissions and offer the potential for long-term cure in a substantial fraction of patients with chemotherapy refractory disease. However, that success is tempered with 10-30% of patients not achieving remission and over half of patients treated eventually experiencing relapse. With over a decade of experience using CAR T-cells in children, adolescents, and young adults (AYA) to treat relapsed/refractory B-cell acute lymphoblastic leukemia (B-ALL) and 5 years since the first FDA approval, data defining nuances of patient-specific risk factors are emerging...
November 23, 2022: Blood
#10
JOURNAL ARTICLE
Pieternella J Lugtenburg, Pim G N J Mutsaers
Diffuse large B-cell lymphoma (DLBCL) is an aggressive but potentially curable disease and is most common in older people. Rituximab-CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) is the standard of care for fit patients without cardiac contraindications. In each individual elderly patient the potential gains of treatment should be balanced against the risks of treatment related morbidity and mortality. A simplified comprehensive geriatric assessment or easily performed assessments such as gait speed and grip strength can be helpful to assess the fitness of an elderly patient...
November 22, 2022: Blood
#11
JOURNAL ARTICLE
Naveen Pemmaraju, Hagop M Kantarjian, Kendra L Sweet, Eunice S Wang, Jayastu Senapati, Nathaniel R Wilson, Marina Y Konopleva, Arthur E Frankel, Vikas Gupta, Ruben A Mesa, Matthew L Ulrickson, Edward Gorak, Sumeet Bhatia, Tulin Budak-Alpdogan, James R Mason, Maria Teresa Garcia-Romero, Norma C Lopez-Santiago, Gabriela Cesarman-Maus, Pankit Vachhani, Sangmin Lee, Vijaya R Bhatt, William Blum, Roland B Walter, Dale Bixby, Ivana Gojo, Madeleine Duvic, Raajit K Rampal, Marcos de Lima, James M Foran, Amir T Fathi, Aric Hall, Meagan A Jacoby, Jeffrey E Lancet, Gabriel N Mannis, Anthony S Stein, Alice S Mims, David Rizzieri, Rebecca L Olin, Alexander E Perl, Gary J Schiller, Paul J Shami, Richard M Stone, Stephen Strickland, Matthew J Wieduwilt, Naval G Daver, Farhad Ravandi, Sumithira Vasu, Monica L Guzman, Gail J Roboz, Joseph D Khoury, Muzaffar H Qazilbash, Phyu Aung, Branko Cuglievan, Yazan F Madanat, Mohamed A Kharfan-Dabaja, Anna B Pawlowska, Justin Taylor, Martin S Tallman, Prajwal Dhakal, Andrew A Lane
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy with historically poor outcomes and no worldwide consensus treatment approach. Unique among most hematologic malignancies for its frequent cutaneous involvement, BPDCN also can invade other extramedullary compartments including the central nervous system. Generally affecting older adults, many patients are unfit to receive intensive chemotherapy, and while hematopoietic stem cell transplantation is preferred for younger, fit individuals, not all are eligible...
November 18, 2022: Blood
#12
JOURNAL ARTICLE
V Koneti Rao, Sharon Webster, Anna Šedivá, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Niall Conlon, Tanya Iona Coulter, Virgil A Dalm, Antonino Trizzino, Yulia Zharankova, Elaine M Kulm, Julia Christine Körholz, Vassilios Lougaris, Yulia Rodina, Kath Radford, Jason Bradt, Klaus Kucher, Anurag Relan, Steven M Holland, Michael J Lenardo, Gulbu Uzel
Activated phosphoinositide 3-kinase delta syndrome (APDS) is an inborn error of immunity with clinical manifestations including infections, lymphoproliferation, autoimmunity, enteropathy, bronchiectasis, increased risk of lymphoma, and early mortality. Hyperactive PI3Kδ signaling causes APDS and is selectively targeted with leniolisib, an oral, small molecule inhibitor of PI3Kδ. Here, 31 patients with APDS aged ≥12 years were enrolled in a global, phase 3, triple-blinded trial and randomized 2:1 to receive 70-mg leniolisib or placebo twice daily for 12 weeks...
November 18, 2022: Blood
#13
JOURNAL ARTICLE
Kirsten Bell Burdett, Dusten Unruh, Michael Drumm, Alicia Steffens, Jonathan Balquiedra Lamano, Jonathan Judkins, Margaret Schwartz, Rodrigo Javier, Christina Amidei, Eric Scott Lipp, Katherine B Peters, Albert Lai, Blaine S C Eldred, Amy B Heimberger, Kathleen McCortney, Denise M Scholtens, Craig Horbinski
Venous thromboembolism (VTE) is a life-threatening condition that is common in patients with adult-type diffuse gliomas, yet thromboprophylaxis is controversial because of possible intracerebral hemorrhage. Effective VTE prediction models exist for other cancers, but not glioma. Our objective was to develop a VTE prediction tool to improve glioma patient care, incorporating clinical, blood-based, histologic, and molecular markers. We analyzed preoperative arterial blood, tumor tissue, and clinical-pathologic data (including next generation sequencing data) from 258 patients with newly diagnosed World Health Organization (WHO) grade 2-4 adult-type diffuse gliomas...
November 18, 2022: Blood
#14
JOURNAL ARTICLE
Guillermo Oliva-Ariza, Blanca Fuentes-Herrero, Cristina Carbonell, Quentin Al Lecrevisse, Alba Pérez-Pons, Alba Torres-Valle, Julio Pozo, José Ángel Martín-Oterino, Óscar González-López, Amparo López-Bernús, Marta Bernal-Ribes, Moncef Belhassen-García, Oihane Pérez-Escurza, Martin Perez-Andres, Lourdes Vazquez, Guillermo Hernández-Pérez, Francisco Javier Garcia García-Palomo, Pilar Leoz, Pilar Costa-Alba, Elena Pérez-Losada, Ana Yeguas, Miryam Santos Sánchez, Marta García-Blázquez, Francisco Javier Morán-Plata, Daniela Damasceno, Vitor Botafogo, Noemi Munoz-Garcia, Rafael Fluxa, Teresa Contreras Sanfeliciano, Julia Almeida, Miguel Marcos, Alberto Orfao
No abstract text is available yet for this article.
November 18, 2022: Blood
#15
JOURNAL ARTICLE
Doris M Ponce, Amin M Alousi, Ryotaro Nakamura, John Slingerland, Marco Calafiore, Karamjeet Singh Sandhu, Juliet N Barker, Sean M Devlin, Jinru Shia, Sergio A Giralt, Miguel-Angel Perales, Gillian F Moore, Samira Fatmi, Cristina Soto, Antonio Lc Gomes, Paul Giardina, LeeAnn Tan Marcello, Xiaoqiang Yan, Tom Tang, Kevin Dreyer, Jianmin Chen, William L Daley, Jonathan U Peled, Marcel R M van den Brink, Alan Hanash
Graft vs. host disease (GVHD) is a major cause of morbidity and mortality following allogeneic hematopoietic transplantation. In experimental models, Interleukin-22 promotes epithelial regeneration and induces innate antimicrobial molecules. We conducted a multicenter single-arm phase 2 study evaluating safety and efficacy of a novel recombinant human Interleukin-22 dimer, F-652, used in combination with systemic corticosteroids for treatment of newly diagnosed lower gastrointestinal acute GVHD (NCT02406651; https://clinicaltrials...
November 18, 2022: Blood
#16
JOURNAL ARTICLE
Ana Marín-Quilez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria M Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, M Jesús Peñarrubia, Emilia Pardal, Jesús Maria Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, Jose Rivera, Alessandra Balduini, José Maria Bastida
Glycosylation is recognized as a key process for proper megakaryopoiesis and platelet formation. The enzyme UDP-galactose-4-epimerase, encoded by GALE, is involved in galactose metabolism and protein glycosylation. Here, we studied three patients from two unrelated families who showed lifelong severe thrombocytopenia, bleeding diathesis, mental retardation, mitral valve prolapse, and jaundice. Whole-exome sequencing revealed four variants affecting GALE, three of them previously unreported (Pedigree A: p.Lys78ValfsX32 and p...
November 17, 2022: Blood
#17
JOURNAL ARTICLE
Yanan Li, Wei Yang, Riddhi M Patel, Emily B Casey, Elisabeth D Denby, Jonny Mendoza-Castrejon, Priscilla Rodriguez-Lopez, Jeffrey A Magee
Acute myeloid leukemia (AML) initiation requires multiple rate-limiting mutations to cooperatively reprogram progenitor cell identity. For example, FLT3 Internal Tandem Duplication (FLT3ITD) mutations have been shown to cooperate with a variety of different initiating mutations to reprogram myeloid progenitor fate. These initiating mutations often skew toward either pediatric or adult AML patient populations, though FLT3ITD itself occurs at similar frequencies in both age groups. This raises the question of whether FLT3ITD might induce distinct transcriptional programs and unmask distinct therapeutic vulnerabilities when paired with pediatric, as opposed to adult, initiating mutations...
November 17, 2022: Blood
#18
JOURNAL ARTICLE
Jason P Cooper, Janis L Abkowitz
Acute graft-versus-host disease (GVHD) is a rare complication following solid organ transplantation (SOT) carrying high mortality. Caused by immunocompetent donor leukocytes within the transplanted organ which become activated against recipient tissues, GVHD typically develops 2-12 weeks following SOT and can affect the skin, gastrointestinal tract, liver, and bone marrow. Signs and symptoms are nonspecific and include a rash, nausea, appetite loss, diarrhea, and cytopenias. Pancytopenia from marrow-directed GVHD is the primary driver of mortality...
November 17, 2022: Blood
#19
JOURNAL ARTICLE
Graça M Dores, Martha S Linet, Rochelle E Curtis, Lindsay M Morton
No abstract text is available yet for this article.
November 15, 2022: Blood
#20
JOURNAL ARTICLE
Michael S Khodadoust, Eric Mou, Youn H Kim
Agents targeting the unique biology of mycosis fungoides and Sézary syndrome are quickly being incorporated into clinical management. With these new therapies, we are now capable of inducing more durable responses and even complete remissions in advanced disease, outcomes which were exceedingly rare with prior therapies. Yet, even this new generation of therapies typically produces objective responses in only a minority of patients. As our therapeutic options increase, we are now challenged with selecting treatments from a growing list of options...
November 15, 2022: Blood
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