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JOURNAL ARTICLE
Kevin Nuno, Armon Azizi, Thomas Koehnke, Caleb Lareau, Asiri Ediriwickrema, M Ryan Corces, Ansuman T Satpathy, Ravindra Majeti
Relapse of acute myeloid leukemia (AML) is highly aggressive and often treatment refractory. We analyzed previously published AML relapse cohorts and found that 40% of relapses occur without changes in driver mutations, suggesting that non-genetic mechanisms drive relapse in a large proportion of cases. We therefore characterized epigenetic patterns of AML relapse using 26 matched diagnosis-relapse samples with ATAC-seq. This analysis identified a relapse-specific chromatin accessibility signature for mutationally stable AML, suggesting that AML undergoes epigenetic evolution at relapse independent of mutational changes...
April 22, 2024: ELife
#2
REVIEW
Natasha Szuber, Attilio Orazi, Ayalew Tefferi
Chronic neutrophilic leukemia (CNL) is a rare BCR::ABL1-negative myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis and bone marrow granulocyte hyperplasia. Atypical chronic myeloid leukemia (aCML) (myelodysplastic "[MDS]/MPN with neutrophilia" per World Health Organization [WHO]) is a MDS/MPN overlap disorder featuring dysplastic neutrophilia and circulating myeloid precursors. Both manifest with frequent hepatosplenomegaly and less commonly, bleeding, with high rates of leukemic transformation and death...
April 21, 2024: American Journal of Hematology
#3
JOURNAL ARTICLE
Nivaz Brar, Lauren Lawrence, Eula Fung, James L Zehnder, Peter L Greenberg, Gabriel N Mannis, Tian Y Zhang, Dita Gratzinger, Jean Oak, Oscar Silva, Jason Kurzer, Brent Tan, Joshua R Menke, Sebastian Fernandez-Pol
OBJECTIVES: Measurable residual disease flow cytometry (MRD-FC) and molecular studies are the most sensitive methods for detecting residual malignant populations after therapy for TP53-mutated acute myeloid leukemia and myelodysplastic neoplasms (TP53+ AML/MDS). However, their sensitivity is limited in suboptimal aspirates or when the immunophenotype of the neoplastic blasts overlaps with erythroids or normal maturing myeloid cells. In this study, we set out to determine if p53 immunohistochemistry (IHC) correlates with MRD-FC and next-generation sequencing (NGS) in the posttherapy setting and to determine the utility of p53 IHC to detect residual disease in the setting of negative or equivocal MRD-FC...
April 20, 2024: American Journal of Clinical Pathology
#4
JOURNAL ARTICLE
Catherine H Marshall, Lukasz P Gondek, Violet Daniels, Changxue Lu, Sergiu Pasca, Jiajun Xie, Mark C Markowski, Channing J Paller, Laura A Sena, Samuel R Denmeade, Jun Luo, Emmanuel S Antonarakis
BACKGROUND: Poly ADP-ribose polymerase (PARP) inhibitors are approved for the treatment of some men with advanced prostate cancer. Rare but serious side effects include myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The impact of PARP inhibitors on clonal hematopoiesis (CH), a potential precursor lesion associated with MDS and AML, is incompletely understood in prostate cancer. We hypothesized that PARP inhibitors would increase CH prevalence and abundance. METHODS: We prospectively enrolled participants with advanced prostate cancer treated with PARP inhibitors...
April 20, 2024: Prostate
#5
REVIEW
Lara Gallucci Figorelle, Peterson Tiago Galvão, Felipe Matheus Ribeiro de Lima, Patricia Marimon, Nathalia Pentagna, Cristiane Milito, Rony Schaffel, Katia Carneiro
Mantle cell lymphoma (MCL) is a rare, incurable non-Hodgkin's lymphoma characterized by naive B cells infiltrating the lymphoid follicle's mantle zone. A key feature of MCL is the cytogenetic abnormality t(11;14) (q13:q14), found in 95% of cases, leading to Cyclin D1 overexpression resulting in uncontrolled cell cycle progression and genetic instability. Occasionally, Cyclin D2 or D3 overexpression can substitute for Cyclin D1, causing similar effects. The transcription factor SOX11 is a hallmark of classical Cyclin D1-positive MCL and also in cases without the typical t(11;14) abnormality, making it an important diagnostic marker...
March 27, 2024: Clinical Lymphoma, Myeloma & Leukemia
#6
JOURNAL ARTICLE
Zhiyao Ren, Jolien Vanhooren, Charlotte Derpoorter, Barbara De Moerloose, Tim Lammens
Risk stratification using genetics and minimal residual disease (MRD) has allowed to increase the cure rates of pediatric acute myeloid leukemia (pedAML) up to 70% in contemporary protocols. Nevertheless, approximately 30% of patients still experience relapse, indicating a need to optimize stratification strategies. Recently, long non-coding RNA (lncRNA) expression has been shown to hold prognostic power in multiple cancer types. Here, we aimed at refining relapse prediction in pedAML using lncRNA expression...
April 19, 2024: Blood Advances
#7
JOURNAL ARTICLE
Joaquin Garcia-Solorio, Juan Carlos Núñez-Enriquez, Marco Jiménez-Olivares, Janet Flores-Lujano, Fernanda Flores-Espino, Carolina Molina-Garay, Alejandra Cervera, Diana Casique-Aguirre, José Gabriel Peñaloza-Gonzalez, Ma Del Rocío Baños-Lara, Ángel García-Soto, César Alejandro Galván-Díaz, Alberto Olaya-Vargas, Hilario Flores Aguilar, Minerva Mata-Rocha, Miguel Ángel Garrido-Hernández, Juan Carlos Solís-Poblano, Nuria Citlalli Luna-Silva, Lena Sarahi Cano-Cuapio, Pierre Mitchel Aristil-Chery, Fernando Herrera-Quezada, Karol Carrillo-Sanchez, Anallely Muñoz-Rivas, Luis Leonardo Flores-Lagunes, Elvia Cristina Mendoza-Caamal, Beatriz Eugenia Villegas-Torres, Vincent González-Osnaya, Elva Jiménez-Hernández, José Refugio Torres-Nava, Jorge Alfonso Martín-Trejo, María de Lourdes Gutiérrez-Rivera, Rosa Martha Espinosa-Elizondo, Laura Elizabeth Merino-Pasaye, María Luisa Pérez-Saldívar, Silvia Jiménez-Morales, Everardo Curiel-Quesada, Haydeé Rosas-Vargas, Juan Manuel Mejía-Arangure, Carmen Alaez-Verson
BACKGROUND: Recurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection. IKZF1plus is a complex biomarker associated with a poor prognosis. It is characterized by IKZF1 deletion coexisting with PAX5 , CDKN2A/2B , or PAR1 region deletions. The mutational spectrum and clinical impact of these alterations have scarcely been explored in Mexican pediatric patients with B-ALL...
2024: Frontiers in Oncology
#8
JOURNAL ARTICLE
Qianqian Wang, Hong Xu, Wei Yu, Lingjie Sun, Hongguo Zhao, Xue Shi
BACKGROUND Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important treatment for severe aplastic anemia (SAA). It is known that SAA can evolve into malignant clonal diseases, such as acute myeloblastic leukemia (AML) or myelodysplastic syndrome. However, the transformation of SAA into AML after allo-HSCT is a rare phenomenon. Here, we report a case of SAA transformed into AML after patient received human leucocyte antigen (HLA)-matched sibling peripheral blood stem cell transplantation...
April 18, 2024: American Journal of Case Reports
#9
JOURNAL ARTICLE
William G Wierda, Jennifer Brown, Jeremy S Abramson, Farrukh Awan, Syed F Bilgrami, Greg Bociek, Danielle Brander, Matthew Cortese, Larry Cripe, Randall S Davis, Herbert Eradat, Bita Fakhri, Christopher D Fletcher, Sameh Gaballa, Muhammad Saad Hamid, Brian Hill, Paul Kaesberg, Brad Kahl, Manali Kamdar, Thomas J Kipps, Shuo Ma, Claudio Mosse, Shazia Nakhoda, Sameer Parikh, Andrew Schorr, Stephen Schuster, Madhav Seshadri, Tanya Siddiqi, Deborah M Stephens, Meghan Thompson, Chaitra Ujjani, Riccardo Valdez, Nina Wagner-Johnston, Jennifer A Woyach, Hema Sundar, Mary Dwyer
Chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) are essentially different manifestations of the same disease that are similarly managed. A number of molecular and cytogenetic variables with prognostic implications have been identified. Undetectable minimal residual disease at the end of treatment with chemoimmunotherapy or venetoclax-based combination regimens is an independent predictor of improved survival among patients with previously untreated or relapsed/refractory CLL/SLL. The selection of treatment is based on the disease stage, presence or absence of del(17p) or TP53 mutation, immunoglobulin heavy chain variable region mutation status, patient age, performance status, comorbid conditions, and the agent's toxicity profile...
April 2024: Journal of the National Comprehensive Cancer Network: JNCCN
#10
REVIEW
Hee Sue Park
Recently, the International Consensus Classification (ICC) and the 5th edition of the World Health Organization classification (WHO2022) introduced diagnostically similar yet distinct approaches, which has resulted in practical confusion. This review compares these classification systems for acute myeloid leukemia (AML), building up on the revised 4th edition of WHO (WHO2016). Both classifications retain recurrent genetic abnormalities as a primary consideration. However, they differ in terms of blast threshold...
April 15, 2024: Blood Research
#11
REVIEW
Fauzia Ullah, Mariam Markouli, Mark Orland, Olisaemeka Ogbue, Danai Dima, Najiullah Omar, Moaath K Mustafa Ali
Large granular lymphocytic (LGL) leukemia is a lymphoproliferative disorder characterized by persistent clonal expansion of mature T- or natural killer cells in the blood via chronic antigenic stimulation. LGL leukemia is associated with specific immunophenotypic and molecular features, particularly STAT3 and STAT5 mutations and activation of the JAK-STAT3 , Fas/Fas-L and NF-κB signaling pathways. Disease-related deaths are mainly due to recurrent infections linked to severe neutropenia. The current treatment is based on immunosuppressive therapies, which frequently produce unsatisfactory long-term responses, and for this reason, personalized approaches and targeted therapies are needed...
March 27, 2024: Cancers
#12
JOURNAL ARTICLE
Yue Huang, Dapeng Chen, Yi Bai, Yamin Zhang, Zhiwen Zheng, Qingfeng Fu, Bocun Yi, Yuchen Jiang, Zhihong Zhang, Jianqiang Zhu
PURPOSE: Establishment of sister chromatid cohesion N-acetyltransferase 2 (ESCO2) is involved in the mitotic S-phase adhesins acetylation and is responsible for bridging two sister chromatids. However, present ESCO2 cancer research is limited to a few cancers. No systematic pan-cancer analysis has been conducted to investigate its role in diagnosis, prognosis, and effector function. METHODS: We thoroughly examined the ESCO2 carcinogenesis in pan-cancer by combining public databases such as The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression Project (GTEx), UALCAN and Tumor Immune Single-cell Hub (TISCH)...
April 11, 2024: BMC Cancer
#13
REVIEW
Magda Zanelli, Valentina Fragliasso, Giuseppe Gaetano Loscocco, Francesca Sanguedolce, Giuseppe Broggi, Maurizio Zizzo, Andrea Palicelli, Stefano Ricci, Elisa Ambrogi, Giovanni Martino, Sara Aversa, Francesca Coppa, Pietro Gentile, Fabrizio Gozzi, Rosario Caltabiano, Nektarios Koufopoulos, Aleksandra Asaturova, Luca Cimino, Alberto Cavazza, Giulio Fraternali Orcioni, Stefano Ascani
Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. BCR::ABL1 translocation is essential for the development and diagnosis of CML; on the other hand, the majority of Ph-negative MPNs are characterized by generally mutually exclusive mutations of Janus kinase 2 ( JAK2 ), calreticulin ( CALR ), or thrombopoietin receptor/myeloproliferative leukemia ( MPL ). CALR mutations have been described essentially in JAK2 and MPL wild-type essential thrombocythemia and primary myelofibrosis...
2024: Frontiers in Cell and Developmental Biology
#14
JOURNAL ARTICLE
Wan-Hsuan Lee, Chien-Chin Lin, Cheng-Hong Tsai, Feng-Ming Tien, Min-Yen Lo, Mei-Hsuan Tseng, Yuan-Yeh Kuo, Shan-Chi Yu, Ming-Chih Liu, Chang-Tsu Yuan, Yi-Tsung Yang, Ming-Kai Chuang, Bor-Sheng Ko, Jih-Luh Tang, Hsun-I Sun, Yi-Kuang Chuang, Hwei-Fang Tien, Hsin-An Hou, Wen-Chien Chou
In 2022, two novel classification systems for myelodysplastic syndromes/neoplasms (MDS) have been proposed: the International Consensus Classification (ICC) and the 2022 World Health Organization (WHO-2022) classification. These two contemporary systems exhibit numerous shared features but also diverge significantly in terminology and the definition of new entities. Thus, we retrospectively validated the ICC and WHO-2022 classification and found that both systems promoted efficient segregation of this heterogeneous disease...
April 9, 2024: Blood Cancer Journal
#15
Fuyi Luo, Bingjie Li, Jing Li, Yan Li
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an extremely rare and aggressive tumor with an unknown pathogenesis. Myelofibrosis (MF) is a type of myeloproliferative neoplasm. MF can be secondary to several hematological malignancies, including chronic myeloid leukemia, myelodysplastic syndrome and hairy cell leukemia. In the present report, a rare case of BPDCN secondary to MF is described. A 70-year-old male patient developed a large purplish-red rash with recurrent symptoms. BPDCN was confirmed by immunohistochemistry of a biopsy specimen and flow cytometry of bone marrow cells...
May 2024: Oncology Letters
#16
JOURNAL ARTICLE
Heloísa Maria Farias Fontes, Júlia Peres de Freitas, José Henrique Vanderlei Oliveira, Édyla Almeida de Sousa Moraes, Eduardo Magalhães Rego, Raul Antônio Morais Melo
INTRODUCTION: Early Death (ED) remains challenging in newly diagnosed acute promyelocytic leukemia (APL), especially in developing countries. The clinical and laboratory profile at diagnosis were evaluated and causes and risk factors were investigated in adult APL patients. METHOD: A retrospective real-life analysis of 141 medical records was performed of patients diagnosed with APL between 2007 and 2018, whether they were treated with the IC-APL 2006 protocol or not...
March 21, 2024: Hematology, Transfusion and Cell Therapy
#17
JOURNAL ARTICLE
Charles Dussiau, Thibault Comont, Camille Knosp, Inès Vergnolle, Clotilde Bravetti, Alban Canali, Amandine Houvert, Laetitia Largeaud, Christian Daveaux, Laila Zaroili, Chloé Friedrich, Ismaël Boussaid, Loria Zalmai, Carole Almire, Odile Rauzy, Lise Willems, Rudy Birsen, Didier Bouscary, Michaela Fontenay, Olivier Kosmider, Nicolas Chapuis, François Vergez
Myelodysplastic neoplasms (MDS) are characterized by clonal evolution starting from the compartment of hematopoietic stem and progenitors cells (HSPCs), leading in some cases to leukemic transformation. We hypothesized that deciphering the diversity of the HSPCs compartment may allow for the early detection of an emergent sub-clone that drives disease progression. Deep analysis of HSPCs repartition by multiparametric flow cytometry revealed a strong disorder of the hematopoietic branching system in most patients at diagnosis with different phenotypic signatures closely related to specific MDS features...
April 4, 2024: Leukemia
#18
JOURNAL ARTICLE
Jotaro Yamamoto, Otoya Watanabe, Takashi Sako, Shinsuke Takagi, Daisuke Kaji, Yuki Taya, Aya Nishida, Hisashi Yamamoto, Yuki Asano-Mori, Go Yamamoto, Hideki Araoka, Naoyuki Uchida
An 80-year-old man with FLT3-TKD mutation-positive acute myeloid leukemia (AML) relapsed during consolidation therapy with venetoclax/azacitidine and was started on gilteritinib as salvage therapy. On the day after treatment initiation, febrile neutropenia was observed, but the fever resolved promptly after initiation of antimicrobial therapy. On the fifth day after completion of antimicrobial therapy, the patient experienced fever and watery diarrhea over 10 times a day, and a diagnosis of Clostridioides difficile infection (CDI) was made based on stool examination...
2024: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
#19
JOURNAL ARTICLE
Hafiz Malhan, Enas Dammag, Waiel Alkahiry, Gadallah Ali, Fahad Bahkali, Anas Alhakim, Mohammad Bakkar
Chronic myeloid leukemia is a type of blood cancer that affects the bone marrow and results in an overproduction of immature WBCs. The genetic mutation that causes CML is the BCR-ABL fusion gene. Adolescents are rarely affected. The case study aims to discuss a rare case of chronic myeloid leukemia causing bilateral hearing impairment, tinnitus, and vertigo. A 30-year-old female presented to the hospital in November, 2021, with sudden hearing impairment and other symptoms, leading to a CML diagnosis. Blood tests revealed hyperleukocytosis with marked neutrophilia, mild basophilia, and eosinophilia, and a BCR-ABL quantitation of 85%...
April 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
#20
REVIEW
Varnika Rai, Anurag Saha, Shweta Gondha, Poornima Manimaran, Jyoti Sawhney
CONTEXT: Splenic B-cell lymphoma/leukemia with prominent nucleoli (SBLPN) aka hairy cell leukemia variant (HCL-v) is a rare B-cell chronic lymphoproliferative disorder. The main diagnostic challenge is to differentiate SBLPN from Classical hairy cell leukemia (HCL-c), as the former faces inferior responses to therapies and a poor prognosis. AIMS: The aim is to discuss the clinic-hematological and immunophenotyping findings of three cases of SBLPN. SETTINGS AND DESIGN: This is a retrospective observational study...
January 1, 2024: Journal of Cancer Research and Therapeutics
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