Article
Oncology
Sonia Matos, Paulo Bernardo, Susana Esteves, Aida Botelho de Sousa, Marcos Lemos, Patricia Ribeiro, Madalena Silva, Albertina Nunes, Joana Lobato, Maria de Jesus Frade, Maria Gomes da Silva, Sergio Chacim, Jose Mariz, Graca Esteves, Joao Raposo, Ana Espadana, Jose Carda, Pedro Barbosa, Vania Martins, Maria Carmo-Fonseca, Joana Desterro
Summary: This study aimed to evaluate the clinical value of screening a targeted gene panel by next-generation sequencing (NGS) in acute myeloid leukemia (AML) patients. The researchers prospectively analyzed 268 newly diagnosed AML patients and found that access to NGS data improved risk assessment for approximately 23% of the patients, leading to unexpected results associated with mutations in the FLT3 gene. The study demonstrates the prognostic utility of screening AML patients for multiple gene mutations by NGS and emphasizes the need for further studies to refine the current risk classification criteria.
Article
Hematology
Nan Zhang, Xiaoyan Liu, Jinxian Wu, Xinqi Li, Qian Wang, Guopeng Chen, Linlu Ma, Sanyun Wu, Fuling Zhou
Summary: This study identified ICAM2 as a significant indicator for survival prediction in intermediate-risk AML patients, based on the analysis of differential abundance of serum proteins. ICAM2 effectively distinguishes the intermediate-risk group, providing additional information for clinical decision-making and improving risk stratification in AML patients.
THERAPEUTIC ADVANCES IN HEMATOLOGY
(2022)
Review
Oncology
Lamia Madaci, Laure Farnault, Norman Abbou, Jean Gabert, Geoffroy Venton, Regis Costello
Summary: Cytological approaches have been used for the diagnosis, prognosis, and management of acute myeloid leukemia (AML) and myelodysplastic neoplasms. Technological advances in molecular biology, particularly next-generation sequencing (NGS), have made it possible to quickly identify gene mutations in AML and MDS. The combination of cytological approaches and NGS enables better clinical management and improved prognosis for patients with acute leukemia and myelodysplastic neoplasms.
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.
Review
Oncology
Hanadi El Achi, Rashmi Kanagal-Shamanna
Summary: NGS is routinely used for mutation profiling in acute myeloid leukemia, with results driving AML phenotype and guiding targeted therapies. Molecular findings have been incorporated into WHO sub-classifications and integrated into treatment guidelines by the European Leukemia Net. NGS mutation profiling provides essential information for diagnosis and treatment in AML, and offers valuable insights into disease ontogeny, resistance monitoring, and other aspects beyond routine clinical applications.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Jong-Mi Lee, Silvia Park, Insik Hwang, Dain Kang, Byung Sik Cho, Hee-Je Kim, Ari Ahn, Myungshin Kim, Yonggoo Kim
Summary: This article presents an ITD-tracing algorithm based on NGS method for monitoring MRD in AML patients. The assay shows high sensitivity and superior performance, and demonstrates prognostic value in AML patients undergoing allogeneic hematopoietic stem cell transplantation.
Article
Oncology
Juan A. Santamaria-Barria, Chikako Matsuba, Adam Khader, Anthony J. Scholar, Mary Garland-Kledzik, Trevan D. Fischer, Richard Essner, Matthew P. Salomon, Joshua M. V. Mammen, Melanie Goldfarb
Summary: This study analyzed melanoma samples and identified age-related mutational differences, as well as potential targetable mutations for personalized therapies.
JOURNAL OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Biao Wang, Bin Yang, Wei Wu, Xuan Liu, Haiqian Li
Summary: This study investigated the correlation between genotypic profiles and clinicopathologic characteristics in AML patients with NPM1 mutation. The co-occurring mutations in signaling pathways and methylation modifiers were found to be associated with the expressions of specific markers, providing mechanistic insights into the immunophenotypic heterogeneity of AML with NPM1 mutation.
Article
Biology
Miaoran Xia, Lina Wu, Xiaoping Sun, Xin Han, Huige Yan, Jing Huang, Youhui Zhang, Zhihong Hu, Youli Zu, C. Cameron Yin, Xiaoyan Qiu
Summary: Identifying new molecular targets is crucial for prognosis prediction and target therapy of acute myeloid leukemia (AML). This study found that higher levels of immunoglobulin (Ig) expression in myeloblasts were associated with significantly shorter disease-free survival in AML patients. Next-generation sequencing revealed dysregulated Ig transcripts and biased V-H-D-J(H) rearrangements in AML. These findings suggest the potential of Ig expression and repertoire as novel markers for disease monitoring and target therapy in AML.
Review
Genetics & Heredity
Ziga I. Remec, Katarina Trebusak Podkrajsek, Barbka Repic Lampret, Jernej Kovac, Urh Groselj, Tine Tesovnik, Tadej Battelino, Marusa Debeljak
Summary: Newborn screening was introduced in the 1960s, and has expanded over time with the advancement of technology, particularly high-throughput sequencing. Genomic sequencing is now widely used in clinical applications, including newborn screening, but has also raised various concerns and challenges.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Huan-Ping Wang, Jun-Jun He, Qiao-Yun Zhu, Lin Wang, Jian-Hu Li, Jian-Song Huang, Wan-Zhuo Xie, Hong-Hu Zhu, Jie Jin
Summary: The NUP214-ABL1 fusion gene is commonly detected in T-ALL and B-ALL patients, but has not been reported in AML. The sensitivity of NUP214-ABL1-positive patients to TKIs remains controversial, and further case studies will provide insights into treatment and prognosis assessments.
FRONTIERS IN ONCOLOGY
(2021)
Article
Immunology
Gregoire Martin de Fremont, Pierre Hirsch, Santiago Gimenez de Mestral, Philippe Moguelet, Yoan Ditchi, Jean-Francois Emile, Patricia Senet, Sophie Georgin-Lavialle, Thomas Hanslik, Francois Maurier, Amir Adedjouma, Noemie Abisror, Thibault Mahevas, Florent Malard, Lionel Ades, Pierre Fenaux, Olivier Fain, Francois Chasset, Arsene Mekinian
Summary: In most cases of MDS/CMML, skin lesions are characterized by a clonal myeloid infiltrate, and there is generally a similar mutational profile between blood/bone marrow and skin.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Chunhong Bu, Shuai Lei, Linguang Chen, Yanqiu Xie, Guoli Zheng, Liwei Hua
Summary: This study reports a case of a patient with chronic myeloid leukemia who developed rigors and high fever after chemotherapy and immunotherapy. Metagenomic next-generation sequencing revealed concurrent Legionella pneumonia and bloodstream infection in the patient. The findings suggest that the possibility of combined Legionella infection should be considered when conventional antimicrobial therapy proves ineffective for critically ill pneumonia patients.
FRONTIERS IN MEDICINE
(2023)
Review
Oncology
Shady Adnan-Awad, Matti Kankainen, Satu Mustjoki
Summary: The BCR-ABL1 fusion gene is a hallmark of CML, and TKIs have greatly improved its management. Challenges in the TKI era include patient stratification, frontline TKI selection, and Treatment-Free Remission. Incorporating genetic data in treatment decisions shows promise for high-risk CML patients.
LEUKEMIA & LYMPHOMA
(2021)
Article
Oncology
Hua Yin, Mei Hong, Jun Deng, Lan Yao, Chenjing Qian, Yao Teng, Tingting Li, Qiuling Wu
Summary: By analyzing gene mutations and clinical characteristics of adult T-cell acute lymphoblastic leukemia/lymphoma patients, three new risk stratification models were established. These models have a good prognostic role in guiding personalized treatment and improving patient outcomes.
FRONTIERS IN ONCOLOGY
(2022)
Article
Medicine, Research & Experimental
Caixia Han, Shujiao He, Ruiqi Wang, Xuefeng Gao, Hong Wang, Jingqiao Qiao, Xiangyu Meng, Yonghui Li, Li Yu
Summary: The study revealed that overexpression of ARHGAP9 is associated with poor overall survival in AML patients and can serve as a prognostic biomarker. AML patients with ARHGAP9 overexpression may benefit from autologous or allogeneic hematopoietic stem cell transplantation rather than chemotherapy.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Oncology
Hong Wang, Yan Li, Qingyu Xu, Wei Zhou, Chengliang Yin, Ruiqi Wang, Mengzhen Wang, Yuanyuan Xu, Yonghui Li, Li Yu
Summary: The study suggests that upfront transplantation and pretransplant cytoreduction yield similar outcomes for patients with advanced MDS, but achieving remission before transplantation leads to better survival. This highlights the importance of timely transplantation and appropriate pretransplant therapy during the donor search.
CLINICAL LYMPHOMA MYELOMA & LEUKEMIA
(2021)
Article
Oncology
Mengzhen Wang, Ruiqi Wang, Hong Wang, Chongjian Chen, Jiayue Qin, Xiaoning Gao, Li Yu
Summary: This study analyzed the genetic mutation profile of previously untreated acute myeloid leukemia (AML) patients and compared the gene mutation spectrum of refractory/relapsed (R/R) AML patients to newly diagnosed ones. The findings show increased frequencies of tumor suppressor mutations in relapsed AML, and decreased mutation frequencies in specific genes. FLT3-ITD mutation predicted poorer outcomes in terms of complete remission and overall survival in refractory AML and relapsed patients.
LEUKEMIA & LYMPHOMA
(2021)
Article
Biochemistry & Molecular Biology
Ze Chen, Yang-Liu Shao, Li-Li Wang, Ji Lin, Ji-Bin Zhang, Yi Ding, Bin-bin Gao, Dai-Hong Liu, Xiao-Ning Gao
Summary: YTHDF2 is highly expressed in t(8;21) AML patients, associated with a higher risk of relapse and inferior relapse-free survival. Knockdown of YTHDF2 impairs cell proliferation rate, possibly by modulating global m(6)A methylation to promote growth of t(8;21) AML cells.
Review
Immunology
Zhiding Wang, Jinghong Chen, Mengzhen Wang, Linlin Zhang, Li Yu
Summary: Tim-3 serves as an immune checkpoint in AML, playing a critical role in immune responses and elimination of leukemia stem cells. Its dual functionality as a potential target for curing AML sheds new light on AML immunotherapy.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Oncology
Caixia Han, Xuefeng Gao, Yonghui Li, Juan Zhang, Erna Yang, Li Zhang, Li Yu
Summary: Gene mutations, especially in genes encoding cohesin subunits, play a significant role in the pathogenesis and progression of AML. Despite ongoing research on cohesin mutations in AML, their precise role in clonal evolution and leukemogenesis remains unclear.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Wei Guan, Lei Zhou, Yan Li, Erna Yang, Yangyang Liu, Na Lv, Lin Fu, Yi Ding, Nan Wang, Nan Fang, Qian Liu, Binan Wang, Fuwei Li, Juan Zhang, Maoquan Wang, Lili Wang, Yu Jing, Yonghui Li, Li Yu
Summary: The study found that FLT3-ITD is a poor prognostic factor in AML patients, while the prognostic significance of FLT3-TKD is controversial. Patients with FLT3-ITD may have concurrent mutations in NPM1 and DNMT3A, while CEBPA mutations are less common. MLL and NUP98 are common fusion genes in FLT3-ITD patients, while AML1-ETO and MLL are common fusion genes in FLT3-TKD patients.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2021)
Letter
Oncology
Erna Yang, Desheng Gong, Wei Guan, Jieying Li, Xuefeng Gao, Yonghui Li, Li Yu
Summary: The DNA methylation level significantly increases when the percentage of AML blasts reaches >= 40%, indicating that an accurate DNA methylation level in cancer cells can be obtained when the bone marrow samples of AML patients have more than 40% myeloblasts.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2021)
Article
Medicine, Research & Experimental
Juan Zhang, Xuefeng Gao, Mingming Wei, Yonghui Li, Guang Yang, Cheng Yang, Li Yu
Summary: A novel epigenetic agent named Apigenin-Vorinostat-Conjugate (AVC) showed potential therapeutic effects against acute myeloid leukemia by effectively inhibiting leukemia cell growth and inducing apoptosis, while sparing normal cells. It exhibits a promising next-generation epigenetic drug for clinical therapy against AML.
Article
Biochemistry & Molecular Biology
Erna Yang, Wei Guan, Desheng Gong, Jieying Li, Caixia Han, Juan Zhang, Hong Wang, Synat Kang, Xuefeng Gao, Yonghui Li, Li Yu
Summary: The RUNX1-RUNX1T1 fusion protein in t(8;21) acute myeloid leukemia inhibits a tumor suppressor protein by recruiting DNA-binding proteins to introduce chemical modifications to the UBXN8 gene. Blocking these modifications with drugs can arrest tumor cell division. Increasing UBXN8 expression may offer a promising therapeutic approach for t(8;21) AML.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2021)
Review
Oncology
Hong Wang, Yan Li, Wei Zhou, Ruiqi Wang, Yonghui Li, Li Yu
Summary: For patients with MDS, timely transplantation is crucial, and pre-transplant cytoreductive therapy can be used during the search for donors to improve transplant outcomes.
Article
Oncology
Yang Xiao, Jinghong Chen, Jia Wang, Wei Guan, Mengzhen Wang, Linlin Zhang, Zhiding Wang, Lixin Wang, Li Yu
Summary: In patients with AML, the expression of ICAM-1 is silenced, but the hypomethylating agent can upregulate its expression, facilitating NK cells to kill AML cells. High expression of ICAM-1 can reverse AML immune evasion and activate NK cell function, suggesting a new strategy for AML treatment.
FRONTIERS IN ONCOLOGY
(2021)
Article
Hematology
Li Zhang, Guangyi Jin, Ziren Chen, Changhua Yu, Yonghui Li, Yisheng Li, Jinghong Chen, Li Yu
Summary: Using WT1 CAR-T cells, we demonstrated that LEN enhances CAR-T cell function in a concentration-dependent manner. Our data showed that LEN increased the infiltration of tumors with CD3(+) and CD8(+) T cells, thereby improving the anti-tumor activity of CAR-T cells in vivo. Proteomics studies supported that LEN enhanced the efficacy of CAR-T cells, including T-cell activation, mitochondrial activity, and immune synapse formation.
Article
Oncology
Xiaoxia Hu, Bianhong Wang, Qi Chen, Aijie Huang, Weijia Fu, Lixia Liu, Ying Zhang, Gusheng Tang, Hui Cheng, Xiong Ni, Lei Gao, Jie Chen, Li Chen, Weiping Zhang, Jianmin Yang, Shanbo Cao, Li Yu, Jianmin Wang
Summary: The study established a prediction model to identify intermediate risk AML patients with inferior survival, based on characteristics such as white blood cell count, mutated DNMT3A, and genes involved in signaling pathways. The model accurately predicted overall survival and relapse-free survival and was validated with two independent cohorts. Allogeneic hematopoietic stem cell transplantation significantly reduced the relapse risk for intermediate high-risk patients.
Article
Hematology
Bianhong Wang, Wei Guan, Na Lv, Ting Li, Fan Yu, Yuehua Huang, Yanying Wang, Lihong Li, Li Yu
Summary: Elderly AML patients have a higher frequency of adverse genetic alterations, such as RUNX1 and secondary-type mutations, while WT1 mutations are less common. Epigenetic mutations like DNMT3A, TET2, ASXL1, and IDH2 are also more prevalent in elderly patients. Decitabine-based chemotherapy showed promising results with an overall response rate of 76.9% and complete remission rate of 71.8%, with a median overall survival of 12 months and 2-year overall survival probability of 20.5% in elderly patients.