Article
Oncology
Anne Tierens, Elizabeth Kagotho, Satoru Shinriki, Andrew Seto, Adam C. Smith, Melanie Care, Dawn Maze, Hassan Sibai, Karen W. Yee, Andre C. Schuh, Dennis Dong Hwan Kim, Vikas Gupta, Mark D. Minden, Hirotaka Matsui, Jose-Mario Capo-Chichi
Summary: Inherited DDX41 mutations cause familial predisposition to hematologic malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). However, the genotype-phenotype correlation in DDX41-MDS/AML remains poorly understood.
FRONTIERS IN ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Flavia Melo Cunha de Pinho Pessoa, Caio Bezerra Machado, Igor Valentim Barreto, Giulia Freire Sampaio, Deivide de Sousa Oliveira, Rodrigo Monteiro Ribeiro, Germison Silva Lopes, Maria Elisabete Amaral de Moraes, Manoel Odorico de Moraes Filho, Lucas Eduardo Botelho de Souza, Andre Salim Khayat, Caroline Aquino Moreira-Nunes
Summary: Acute myeloid leukemia (AML) is a blood cancer caused by genetic mutations, chromosomal translocations, or molecular changes. These alterations accumulate in stem cells and progenitor cells, leading to the development of AML, which is prevalent in 80% of adult acute leukemias. Recurrent cytogenetic abnormalities serve as diagnostic and prognostic markers and also confer resistance to traditional treatments. Immunophenotyping can help characterize the surface antigens of AML cells, aiding in the understanding of their molecular and immunophenotypic alterations.
Review
Immunology
Thomas Menter, Alexandar Tzankov
Summary: This review examines the complex relationship between leukemic cells and the tumor microenvironment in AML, focusing on niche cells and T-cell subsets, and explores potential therapeutic strategies for manipulating the tumor microenvironment.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Meike Farber, Yiyang Chen, Lucas Arnold, Michael Moellmann, Eva Boog-Whiteside, Yu-An Lin, H. Christian Reinhardt, Ulrich Duehrsen, Maher Hanoun
Summary: Targeting the interaction between leukemic cells and the microenvironment by inhibiting CD38 has the potential to enhance therapeutic efficacy in AML. However, while the anti-CD38 antibody daratumumab showed significant cytostatic efficacy in an in vitro model, it ultimately lacked robust anti-leukemic effects in vivo in a xenograft transplantation model.
SCIENTIFIC REPORTS
(2021)
Article
Pathology
Olga K. Weinberg, Karen M. Chisholm, Chi Young Ok, Yuri Fedoriw, Bartosz Grzywacz, Jason H. Kurzer, Emily F. Mason, Karen A. Moser, Siddharth Bhattacharya, Mina Xu, Daniel Babu, Kathryn Foucar, Wayne Tam, Adam Bagg, Attilio Orazi, Tracy George, Wei Wang, Sa A. Wang, Daniel A. Arber, Robert P. Hasserjian
Summary: NK-LL is a rare type of acute leukemia with distinct clinical presentation, immunophenotypic, and molecular characteristics compared to other types of acute leukemias. The study found that NK-LL patients are typically younger with higher white blood cell and platelet counts, and exhibit differences in certain immunophenotypic markers and gene mutations compared to other types of acute leukemias.
Review
Biochemistry & Molecular Biology
Sung-Gi Chi, Yosuke Minami
Summary: This article summarizes the recent updates on molecular targeting agents and emerging gene-specific strategies. FLT3 and IDH inhibitors are being tested together with conventional chemotherapy in patients who are fit for treatment and those who are not eligible for intensive therapy. Other potential therapeutic strategies include targeting the menin-MLL complex pathway, downstream signaling molecule SYK, and developing next-generation p53 stabilizers. The TP53 mutation remains a challenge, but promising results have been observed with the anti-CD47 antibody magrolimab in combination with azacitidine in patients carrying the TP53 mutation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Christian M. Vonk, Adil S. A. Al Hinai, Diana Hanekamp, Peter J. M. Valk
Summary: Although most AML patients achieve CR after initial induction chemotherapy, residual leukemic cells may lead to relapse, with MRD serving as a prognostic marker. Molecular techniques like NGS offer a sensitive assessment of MRD markers, but face challenges such as limited sensitivity/specificity and difficulty in distinguishing mutations. Multiple studies have explored the association between MRD detection by molecular assays and AML relapse, highlighting limitations, challenges, and opportunities.
Review
Oncology
Kritika Srinivasan Rajsri, Nainita Roy, Sohini Chakraborty
Summary: Acute myeloid leukemia (AML) is a blood cancer characterized by immature blood cells called leukemic blasts. Leukemia stem cells (LSCs) are resistant to chemotherapy and can cause disease relapse. Understanding the molecular basis of LSCs is important in identifying and targeting these cells for more effective treatment.
Review
Cell Biology
Debora Bifano Pimenta, Vanessa Araujo Varela, Tarcila Santos Datoguia, Victoria Bulcao Caraciolo, Gabriel Herculano Lopes, Welbert Oliveira Pereira
Summary: Bone marrow is a complex tissue that regulates hematopoiesis, with AML developing in this microenvironment. Cells and molecules within the hematopoietic niche interact to influence leukemia development, suggesting that targeting the bone marrow microenvironment could be a promising strategy for AML treatment.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Ting Liu, Jianan Rao, Wenting Hu, Bowen Cui, Jiaoyang Cai, Yuhan Liu, Huiying Sun, Xiaoxiao Chen, Yanjing Tang, Jing Chen, Xiang Wang, Han Wang, Wubin Qian, Binchen Mao, Sheng Guo, Ronghua Wang, Yu Liu, Shuhong Shen
Summary: This study identifies potential driver alterations in Chinese pediatric AML, which differ from Western populations, and proposes a prognostic risk classification model.
NATURE COMMUNICATIONS
(2022)
Review
Oncology
Sara Ribeiro, Anna M. Eiring, Jamshid S. Khorashad
Summary: AML is a heterogeneous malignancy with various genetic abnormalities, some of which have led to the development of specific inhibitors approved by the FDA for eligible patients. Cytogenetic profiling and gene mutation analysis are essential for the diagnosis, classification, prognosis, and treatment of AML. The review discussed genomic abnormalities in AML, the significance of certain gene mutations as therapeutic targets, and the limitations of current genomic approaches in producing a comprehensive understanding of the disease.
Editorial Material
Cell & Tissue Engineering
Malini Gupta, Britta Will
Summary: Adaptive aberrant gene regulation is a hallmark of malignant growth and therapy resistance in acute myeloid leukemia (AML). In this study, Eagle et al. identified oncogenic enhancer-driven overexpression of selenophosphate synthetase 2 (SEPHS2) as a targeted opportunity for mitigating malignant cell growth in AML.
Article
Oncology
Claudia Nunez-Torron Stock, Carlos Jimenez Chillon, Fernando Martin Moro, Juan Marquet Palomanes, Kyra Velazquez Kennedy, Miguel Piris Villaespesa, Ernesto Roldan Santiago, Eulalia Rodriguez Martin, Anabelle Chinea Rodriguez, Valentin Garcia Gutierrez, Gemma Moreno Jimenez, Javier Lopez Jimenez, Pilar Herrera Puente
Summary: Secondary acute myeloid leukemia (s-AML) patients who undergo allogeneic stem-cell transplant (HSCT) have worse survival compared to de novo AML patients, particularly in those who achieve complete remission (CR) before transplant. Factors contributing to the poorer prognosis include an increased risk of relapse and non-relapse mortality. However, patients receiving MAC conditioning had comparable outcomes, regardless of leukemia ontogeny.
HEMATOLOGICAL ONCOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Ki Hyun Bae, Fritz Lai, Jamie Mong, Akiko Niibori-Nambu, Kiat Hwa Chan, Zhisheng Her, Motomi Osato, Min-Han Tan, Qingfeng Chen, Motoichi Kurisawa
Summary: This study presents a bone marrow-targetable green tea catechin-based micellar nanocomplex that synergistically enhances the anti-leukemic potency of sorafenib. It demonstrates effective eradication of leukemic blasts in bone marrow and improved survival rates in an AML-PDX mouse model.
JOURNAL OF NANOBIOTECHNOLOGY
(2022)
Article
Multidisciplinary Sciences
Golnaz Ensieh Kazemi-Sefat, Mohammad Keramatipour, Mohammad Vaezi, Seyed Mohsen Razavi, Kaveh Kavousi, Amin Talebi, Shahrbanoo Rostami, Marjan Yaghmaei, Bahram Chahardouli, Saeed Talebi, Kazem Mousavizadeh
Summary: This study identified important genetic variants in patients with myeloid blast crisis chronic myeloid leukemia (CML) using integrated genomic sequencing. These variants affect genes involved in leukemia stem cell proliferation, self-renewal, and differentiation. RNA sequencing was used to confirm these variants. This approach provides insights into the pathophysiology of CML and may aid in its management.
SCIENTIFIC REPORTS
(2022)
Letter
Hematology
Fatima Zahra Jelloul, Richard K. Yang, Peng Wang, Sofia Garces, Rashmi Kanagal-Shamanna, Chi Y. Ok, Sanam Loghavi, Mark J. Routbort, Zhuang Zuo, Cheng Cameron Yin, Kristen Floyd, Roland L. Bassett, William G. Wierda, Nitin Jain, Philip A. Thompson, Rajyalakshmi Luthra, Leonard Jeffrey Medeiros, Keyur P. Patel
AMERICAN JOURNAL OF HEMATOLOGY
(2022)
Review
Hematology
Jurgen Thiele, Hans Michael Kvasnicka, Attilio Orazi, Umberto Gianelli, Naseema Gangat, Alessandro M. Vannucchi, Tiziano Barbui, Daniel A. Arber, Ayalew Tefferi
Summary: A group of international experts met to update the World Health Organization classification system for hematopoietic tumors and introduced the new International Consensus Classification (ICC) for Myeloid Neoplasms and Acute Leukemias. The focus of this review is on the ICC-2022 category of JAK2 mutation-prevalent myeloproliferative neoplasms (MPNs) and the importance of bone marrow morphology and genetic markers in disease classification and diagnostics.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Editorial Material
Hematology
Ruth Padmore, Heesun Joyce Rogers
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Review
Pathology
Roos J. Leguit, Sa A. Wang, Tracy George, Alexandar Tzankov, Attilio Orazi
Summary: Mastocytosis is a neoplasm characterized by clonal proliferation of mast cells, which can accumulate in the skin and multiple organs, leading to various clinical presentations. According to the 2022 international consensus classification, mastocytosis can be divided into a benign form confined to the skin and a malignant form with systemic involvement.
Correction
Hematology
Juergen Thiele, Hans Michael Kvasnicka, Attilio Orazi, Umberto Gianelli, Naseema Gangat, Alessandrom M. Vannucchi, Tiziano Barbui, Daniel A. Arber, Ayalew Tefferi
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Editorial Material
Hematology
Daniel A. A. Arber, Robert P. P. Hasserjian, Attilio Orazi
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Review
Pathology
Sonam Prakash, Daniel A. Arber, Carlos Bueso-Ramos, Robert P. Hasserjian, Attilio Orazi
Summary: The MDS/MPN category includes diseases with both myelodysplastic and myeloproliferative features. The revised International Consensus Classification now requires the presence of increased peripheral blood cell counts and concomitant cytopenia for diagnosis. The use of modern gene sequencing has improved understanding of the biological characteristics and specific mutations of these diseases, which are now included in the diagnostic criteria for some MDS/MPN entities. This review highlights the changes in diagnostic criteria and provides practical guidance for diagnosis.
Article
Biology
Zhuang Zuo, L. Jeffrey Medeiros, Sofia Garces, Mark J. Routbort, Chi Young Ok, Sanam Loghavi, Rashmi Kanagal-Shamanna, Fatima Zahra Jelloul, Guillermo Garcia-Manero, Kelly L. S. Chien, Keyur S. P. Patel, Rajyalakshmi Luthra, C. Cameron Yin
Summary: The genetic landscape of myeloid neoplasms has been elucidated by next-generation sequencing, revealing that multiple gene mutations are present in most cases. Understanding the patterns and interactions between these mutations can improve diagnosis and prognosis. SF3B1 and PHF6 mutations are known to have cooperative or mutually exclusive effects in the pathogenesis of myeloid neoplasms. This study reports the clinicopathologic and molecular features of 21 cases with double SF3B1 and PHF6 mutations, highlighting their rarity but presence in various myeloid neoplasms and their roles in early events and disease progression.
Review
Hematology
Sa A. Wang, Attilio Orazi, Jason Gotlib, Andreas Reiter, Alexandar Tzankov, Robert P. Hasserjian, Daniel A. Arber, Ayalew Tefferi
Summary: Based on new data and increased understanding of disease molecular genetics, the international consensus classification has made changes in the diagnosis and classification of eosinophilic disorders and systemic mastocytosis. The changes include renaming myeloid/lymphoid neoplasms with eosinophilia and gene rearrangements, expanding the category to include more gene fusions, and introducing bone marrow morphologic criteria. The review focuses on the updates related to these diseases, including changes in morphology, molecular genetics, clinical features, prognosis, and treatment.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Letter
Hematology
Fatima Zahra Jelloul, Mark. J. Routbort, Courtney D. DiNardo, Carlos E. Bueso-Ramos, Rashmi Kanagal-Shamanna, Beenu Thakral, Zhuang Zuo, C. Cameron Yin, Sanam Loghavi, Chi Young. Ok, Sa A. Wang, Zhenya Tang, M. James You, Keyur P. Patel, L. Jeffrey Medeiros, Andres E. Quesada
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Editorial Material
Hematology
Karen. A. A. Nahmod, Koji Sasaki, Chi Young Ok, Sanam Loghavi
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Oncology
Hatem Kaseb, Valeria Visconte, Daniel S. S. Socha, Genevieve M. M. Crane, Lisa Durkin, James R. R. Cook, Jaroslaw P. P. Maciejewski, Eric D. D. Hsi, Heesun J. J. Rogers
Summary: This retrospective study evaluated the clinicopathologic and immunohistochemical features of non-AML MN patients with NPM1 mutations. The study found that NPM1 mutated non-AML MN patients commonly had cytopenias, dysplasia, normal karyotype, mutations in multiple genes, and an unfavorable clinical outcome, including progression to AML. Immunohistochemistry can be a useful tool to predict NPM1 mutation, but genetic testing cannot be replaced by it.
GENES CHROMOSOMES & CANCER
(2023)
Article
Hematology
Ayalew Tefferi, Maymona Abdelmagid, Aref Al-Kali, Mrinal Patnaik, William J. Hogan, Kebede Begna, Naseema Gangat, Attilio Orazi, Dong Chen, Kaaren K. Reichard, Animesh Pardanani
Summary: This study demonstrates the independent prognostic contribution of the ICC system for SM-Adv and the Mayo alliance risk factors for survival in SM.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Medical Laboratory Technology
Sa A. Wang, Jeffrey L. Jorgensen, Shimin Hu, Fuli Jia, Shaoying Li, Sanam Loghavi, Chi Young Ok, Beenu Thakral, Jie Xu, L. Jeffrey Medeiros, Wei Wang
Summary: Through this study, we successfully validated a 12-color AML MRD flow cytometry assay to meet stringent regulatory requirements, and tested its clinical value in 61 patients. The validation met all criteria and obtained FDA IDE approval.
CYTOMETRY PART B-CLINICAL CYTOMETRY
(2023)
Letter
Oncology
Preetesh Jain, Krystle Nomie, Nikita Kotlov, Vitaiy Segodin, Holly Hill, Chi Young Ok, Ahmed Fetooh, Rashmi Kanagal-Shamanna, Francisco Vega, Alexander Bagaev, Nathan Fowler, Christopher R. Flowers, Michael Wang
BLOOD CANCER JOURNAL
(2023)
Article
Pathology
Juliana Mota Siqueira, Yoshitsugu Mitani, Camilla Oliveira Hoff, Flavia Bonini, Luana Guimaraes de Sousa, Mario L. Marques-Piubelli, Anurag Purushothaman, Mutsumi Mitani, Hui Dai, Shiaw-Yih Lin, Michael T. Spiotto, Ehab Y. Hanna, Daniel J. McGrail, Adel K. El-Naggar, Renata Ferrarotto
Summary: B7-H4 expression pattern varies among different types of salivary gland carcinomas, and high B7-H4 expression is associated with poor prognosis in adenoid cystic carcinoma.
Article
Pathology
Basile Tessier-Cloutier, Felix K. F. Kommoss, David L. Kolin, Kristyna Nemejcova, Dupreez Smith, Jennifer Pors, Colin J. R. Stewart, W. Glenn Mccluggage, William D. Foulkes, Andreas von Deimling, Martin Kobel, Cheng-Han Lee
Summary: This study provides a detailed analysis of the clinical, pathological, immunohistochemical, and molecular features of DDOC/UDOC. The majority of patients presented with extraovarian disease and had rapid disease progression resulting in high mortality rate.
Review
Pathology
Sophia J. Wagner, Christian Matek, Sayedali Shetab Boushehri, Melanie Boxberg, Lorenz Lamm, Ario Sada, Dominik J. E. Winter, Carsten Marr, Tingying Peng
Summary: Computational pathology research driven by deep learning faces challenges in reproducibility and reusability. Codebase with good documentation and robustness and generalizability of models are crucial. The reuse of computational pathology algorithms is limited, and their application in clinical settings is even rarer. This study evaluates 160 peer-reviewed articles, providing criteria for data and code availability and statistical analysis of results.
Article
Pathology
Andres M. Acosta, Lynette M. Sholl, Fiona Maclean, Chia-Sui Kao, Thomas M. Ulbright
Summary: This study assessed the clinicopathologic and genomic features of 14 cases of testicular sex cord-stromal tumors. The results showed that CTNNB1 mutations are rare in these tumors, and most of them have genomic alterations similar to testicular sex cord-stromal tumors with pure or predominant spindle cell components.
Article
Pathology
Toru Odate, Kaishi Satomi, Takashi Kubo, Yuko Matsushita, Toshihide Ueno, Akira Kurose, Kohei Shomori, Tokiko Nakai, Reiko Watanabe, Keiko Segawa, Shusa Ohshika, Naritomo Miyake, Sayaka Kudo, Tatsunori Shimoi, Eisuke Kobayashi, Motokiyo Komiyama, Seiichi Yoshimoto, Fumihiko Nakatani, Akira Kawai, Yasushi Yatabe, Shinji Kohsaka, Koichi Ichimura, Hitoshi Ichikawa, Akihiko Yoshida
Summary: Inflammatory rhabdomyoblastic tumors (IRMTs) are newly recognized skeletal muscle tumors with uncertain malignant potential. This study investigated 13 IRMTs using clinicopathologic, genetic, and epigenetic methods. The results showed specific histologic features and genetic mutations in these tumors, and most of them exhibited benign behavior.
Article
Pathology
Dale L. Davis, Adam C. Lechner, David B. Chapel, Jonathan C. Slack, Chrystalle Katte Carreon, Bradley J. Quade, Carlos Parra-Herran
Summary: The Amsterdam Consensus Statement introduced the term maternal vascular malperfusion (MVM) to classify a group of findings related to impaired maternal-placental circulation. The study found that features such as low placental weight, accelerated villous maturation, decidual arteriopathy, and infarcts are associated with adverse obstetrical outcomes, while the role of other features like distal villous hypoplasia, excess multinucleated trophoblast, and retroplacental hemorrhage needs further research.
Review
Pathology
Alain C. Borczuk
Summary: COVID-19 is an acute respiratory illness that can progress to acute respiratory distress syndrome. While most patients recover completely, some may experience persistent respiratory dysfunction, known as long COVID. The pathogenesis involves immune and cellular disturbances.
Article
Pathology
Annikka Weissferdt, Cheuk H. Leung, Heather Lin, Boris Sepesi, William N. William, Stephen G. Swisher, Tina Cascone, J. Jack Lee, Abujiang Pataer
Summary: Neoadjuvant treatment of non-small cell lung cancer challenges traditional processing of pathology specimens, and accurate evaluation of residual tumor is crucial for assessing treatment efficacy.
