Review
Medicine, General & Internal
Lukasz P. Gondek, Vivien A. Sheehan, Courtney D. Fitzhugh
Summary: Sickle cell disease (SCD) is associated with severe morbidity and early mortality. Two recent large studies have found an increased risk of leukemia in individuals with SCD, particularly after graft rejection and gene therapy. Clonal hematopoiesis (CH) is a recognized premalignant condition that may be more common in SCD than in the general population. This review explores the risk factors for CH and progression to leukemia in SCD and suggests the need for individualized benefit/risk assessment for patients undergoing curative therapies.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Immunology
Hyery Kim, Beom Hee Lee, Hyo-Sang Do, Gu-Hwan Kim, Sunghan Kang, Kyung-Nam Koh, Ho Joon Im
Summary: Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway. The treatment of MKD focuses on suppressing recurrent hyperinflammatory attacks using anti-inflammatory drugs. Allogeneic hematopoietic stem cell transplantation (HCT) has been shown to successfully ameliorate autoinflammatory attacks in patients with MKD who have MA.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Oncology
Li Xuan, Qifa Liu
Summary: Relapse is still the main reason for treatment failure in AML patients undergoing allo-HSCT. Evidence suggests that maintenance therapy post-transplantation, particularly targeted drugs like hypomethylating agents, FLT3 inhibitors, and isocitrate dehydrogenase inhibitors, could benefit AML patients, especially those at high risk.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Review
Oncology
A. Bazinet, H. M. Kantarjian
Summary: Acute myeloid leukemia (AML) is a genetically heterogeneous disease. Personalized therapy based on patient characteristics and cytogenetic/molecular features is now possible. Intensive or low-intensity treatment approaches can be selected based on patient age and/or comorbidities. Molecularly defined AML subtypes benefit from targeted agents, while novel therapies are needed for TP53-mutated AML. Optimization of AML therapy in patients without actionable mutations and the role of measurable residual disease in modifying therapy are also discussed.
ANNALS OF ONCOLOGY
(2023)
Review
Hematology
Giovanna Cannas, Solene Poutrel, Mael Heiblig, Helene Labussiere, Marie-Virginie Larcher, Xavier Thomas, Arnaud Hot
Summary: Population-based studies and case reports indicate an increased risk of acute leukemia in sickle cell disease (SCD) patients. A review of the literature found 51 previously reported cases, with myelodysplastic features and genetic abnormalities identified. The increased leukemogenesis risk in SCD is multifactorial, attributed to chronic inflammation caused by chronic hemolysis and secondary hemochromatosis, leading to persistent marrow stress and genetic damage in hematopoietic stem cells, ultimately resulting in acute myeloid leukemia.
ANNALS OF HEMATOLOGY
(2023)
Review
Immunology
Justin Loke, Richard Buka, Charles Craddock
Summary: While most AML patients achieve complete remission with intensive chemotherapy, many face a risk of relapse if treated with chemotherapy alone. Allogeneic stem cell transplant has become a key treatment strategy for AML patients, especially for those in first complete remission and advanced stages. Despite a decrease in transplant-related mortality, there remains a need to address the risk of disease relapse.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Genetics & Heredity
Giovanni Micheloni, Annalisa Frattini, Marta Donini, Stefano Dusi, Anna Leszl, Annamaria Di Meglio, Martina Pigazzi, Antonio Musio, Marco Zecca, Tommaso Mina, Marco Rabusin, Pamela Roccia, Paolo Bernasconi, Irene Dambruoso, Antonella Minelli, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Roberto Valli, Francesco Pasquali
Summary: This study reports a rare case of a patient with chronic granulomatous disease (CGD) who developed acute myeloid leukemia (AML) after hematopoietic stem cell transplantation (HSCT). The AML clone derived from the donor cells showed consistent chromosomal rearrangement and acquired additional anomalies during the ten years of follow-up. The study highlights the uncommon cytogenetic course of AML in this patient.
Review
Cell Biology
Paula Germino-Watnick, Malikiya Hinds, Anh Le, Rebecca Chu, Xiong Liu, Naoya Uchida
Summary: Autologous hematopoietic stem cell (HSC)-targeted gene therapy provides a one-time cure for various genetic diseases including sickle cell disease (SCD) and beta-thalassemia. This review discusses the methods of gene addition and gene editing in HSC-targeted gene therapy for SCD.
Article
Hematology
Kaito Harada, Shohei Mizuno, Shingo Yano, Akiyoshi Takami, Hiroto Ishii, Kazuhiro Ikegame, Yuho Najima, Shinichi Kako, Takashi Ashida, Souichi Shiratori, Shuichi Ota, Makoto Onizuka, Kentaro Fukushima, Takahiro Fukuda, Tatsuo Ichinohe, Yoshiko Atsuta, Masamitsu Yanada
Summary: Although haploidentical donor lymphocyte infusion (DLI) is a valid treatment option for relapsed acute myeloid leukemia (AML), the incidence and risk factors for graft-versus-host disease (GVHD) and the efficacy of haploidentical DLI have not been fully evaluated. Our retrospective analysis showed that a higher CD3(+) cell count was associated with an increased risk of acute GVHD, and preemptive DLI resulted in better overall response.
ANNALS OF HEMATOLOGY
(2022)
Editorial Material
Multidisciplinary Sciences
Ambroise Wonkam
Summary: Despite being the epicentre of sickle-cell disease, Africa is underrepresented in genome-wide association studies.
Review
Oncology
Marius Maucher, Micha Srour, Sophia Danhof, Hermann Einsele, Michael Hudecek, Ibrahim Yakoub-Agha
Summary: CAR-T cell therapy shows promise in AML treatment, with challenges lying in identifying suitable target antigens and implementing it clinically.
Article
Oncology
Jie Yang, Baoan Chen
Summary: Therapy-related acute myeloid leukemia (t-AML) is a significant complication in patients with primary cancer undergoing chemotherapy and/or radiotherapy, with a median latency period of 25 months and a 2-year survival rate of 44.4%.
Article
Oncology
Corentin Orvain, Eduardo Rodriguez-Arboli, Megan Othus, Brenda M. Sandmaier, H. Joachim Deeg, Frederick R. Appelbaum, Roland B. Walter
Summary: This study retrospectively analyzed 739 patients with de novo AML, 125 with antecedent hematologic disorder (AHD)/AML, and 115 with therapy-related AML who received allografts while in first or second remission. The results showed that relative to patients with de novo AML, relapse rates were similar for patients with AHD and therapy-related AML after multivariable adjustment, as were relapse-free survival and overall survival. Non-relapse mortality was higher for AHD AML. These findings suggest that the clinical history by itself has limited prognostic value for AML patients undergoing allografting.
Article
Immunology
Yimei Feng, Ting Chen, Yun Zhang, Han Yao, Ping Wang, Lu Wang, Kaniel Cassady, Zhongmin Zou, Yuqing Liu, Lu Zhao, Lei Gao, Xi Zhang, Peiyan Kong
Summary: This study examines the efficacy and tolerability of maintenance therapy with azacytidine (AZA) plus low-dose lenalidomide (LEN) to prevent relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) for acute myeloid leukemia (AML) patients. The results show that this treatment regimen plays a significant role in preventing relapse without significantly increasing the risk of complications post-transplantation.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Fabiana Cacace, Rossella Iula, Danilo De Novellis, Valeria Caprioli, Maria Rosaria D'Amico, Giuseppina De Simone, Rosanna Cuccurullo, William G. Wierda, Kris Michael Mahadeo, Giuseppe Menna, Francesco Paolo Tambaro
Summary: Pediatric acute myeloid leukemia is a clonal disorder characterized by malignant transformation of the hematopoietic stem cell. Treatment includes chemotherapy and stem cell transplantation. Although prognosis has improved, it remains inferior to pediatric acute lymphoblastic leukemia.
Article
Genetics & Heredity
Lizabeth A. Perkins, Laura Holderbaum, Rong Tao, Yanhui Hu, Richelle Sopko, Kim McCall, Donghui Yang-Zhou, Ian Flockhart, Richard Binari, Hye-Seok Shim, Audrey Miller, Amy Housden, Marianna Foos, Sakara Randkelv, Colleen Kelley, Pema Namgyal, Christians Villalta, Lu-Ping Liu, Xia Jiang, Qiao Huan-Huan, Xia Wang, Asao Fujiyama, Atsushi Toyoda, Kathleen Ayers, Allison Blum, Benjamin Czech, Ralph Neumuller, Dong Yan, Amanda Cavallaro, Karen Hibbard, Don Hall, Lynn Cooley, Gregory J. Hannon, Ruth Lehmann, Annette Parks, Stephanie E. Mohr, Ryu Ueda, Shu Kondo, Jian-Quan Ni, Norbert Perrimon
Article
Cell Biology
Richelle Sopko, Marianna Foos, Arunachalam Vinayagam, Bo Zhai, Richard Binari, Yanhui Hu, Sakara Randklev, Lizabeth A. Perkins, Steven P. Gygi, Norbert Perrimon
DEVELOPMENTAL CELL
(2014)
Article
Genetics & Heredity
Yanhui Hu, Richelle Sopko, Marianna Foos, Colleen Kelley, Ian Flockhart, Noemie Ammeux, Xiaowei Wang, Lizabeth Perkins, Norbert Perrimon, Stephanie E. Mohr
G3-GENES GENOMES GENETICS
(2013)
Article
Genetics & Heredity
Yanhui Hu, Richelle Sopko, Verena Chung, Marianna Foos, Romain A. Studer, Sean D. Landry, Daniel Liu, Leonard Rabinow, Florian Gnad, Pedro Beltrao, Norbert Perrimon
G3-GENES GENOMES GENETICS
(2019)