Chromosomal rearrangements affecting RUNX1 and CBFB are common in acute leukemias. These mutations result in the expression of fusion proteins that act dominant-negatively to suppress the normal function of the Runt-related transcription factor 1 (RUNX)/core binding factor beta (CBFbeta) complexes. In addition, loss-of-function mutations in Runt-related transcription factor 1 (RUNX1) have been identified in sporadic cases of acute myeloid leukemia (AML) and in association with the familial platelet disorder with propensity to develop AML (FPD/AML). In order to examine the hypothesis that decreased gene dosage of RUNX1 may be a critical event in the development of leukemia, we treated chimeric mice generated from Runx1(lacZ/lacZ) embryonic stem (ES) cells that have homozygous disruption of the Runx1 gene with N-ethyl-N-nitrosourea (ENU). We observed an increased incidence of T-lymphoblastic lymphoma in Runx1(lacZ/lacZ) compared with wild-type chimeras and confirmed that the tumors were of ES-cell origin. Our results therefore suggest that deficiency of Runx1 can indeed predispose mice to hematopoietic malignancies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459843 | PMC |
| http://dx.doi.org/10.1182/blood-2005-04-1447 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mutational Profiling of Korean Lymphomas and Diffuse Large B-Cell Lymphoma Subtype Classification Using Targeted Panel Sequencing.
Arch Med Res
January 2025
Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, South Korea; Center for Precision Medicine and Genomics, Wonju Severance Christian Hospital, Wonju, South Korea. Electronic address:
Background: Lymphoma is a common hematological malignancy with diverse morphological and immunophenotypic characteristics that may affect treatment and outcomes. Thus, accurate differential diagnosis is crucial, and molecular genetic testing is valuable. We aimed to investigate the genetic characteristics of Korean patients with lymphoma using a next-generation sequencing (NGS)-based targeted panel.
View Article and Find Full Text PDFPediatric T-lymphoblastic Leukemia With an Entirely Mature Immunophenotype: A Prompt and Challenging Diagnosis.
J Pediatr Hematol Oncol
January 2025
Centers for Cancer and Blood Disorders and Cancer and Immunology Research, Children's National Hospital.
Children with T-ALL/LBL require prompt diagnosis and treatment. Flow cytometric analysis of T-lineage and immaturity markers usually leads to a straightforward diagnosis. However, rare cases of T-ALL expressing bright CD45 and lacking expression of immature markers can be a diagnostic conundrum and difficult to differentiate from mature T-cell lymphomas lacking surface CD3 expression or aberrantly expressing immature markers, which affects treatment decisions and prognosis.
View Article and Find Full Text PDFWhole exome sequencing analysis of a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions with ETV6::LYN fusion gene.
Ann Hematol
December 2024
Department of Hematology, National Cancer Center Hospital, Tokyo, Japan.
ETV6::LYN fusion gene is recognized as one of the genetic alterations responsible for myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) according to the 2022 WHO classification. However, the clinical features and pathogenesis of MLN-TK with ETV6::LYN are not well defined because of the rarity of the disease. Here, we report an MLN-TK patient with ETV6::LYN that manifested as myeloproliferative neoplasms (MPN) with eosinophilia, myelofibrosis, and T-lymphoblastic lymphoma (T-LBL), which eventually led to acute myeloid leukemia.
View Article and Find Full Text PDFA case report of successful treatment of pulmonary mucormycosis caused by Cunninghamella bertholletiae infection in a patient with T-lymphoblastic lymphoma.
Heliyon
December 2024
Department of Gastroenterology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China.
Mucormycosis caused by is a rare opportunistic infection in patients with hematological malignancies (HM), with high mortality rates. Herein, we first report a case of pulmonary mucormycosis (PM) with in a 25-year-old male recently diagnosed with T-lymphoblastic lymphoma (T-LBL). The diagnosis was established through chest computed tomography (CT), metagenomic next-generation sequencing (mNGS) of blood and bronchoalveolar lavage fluid (BALF), as well as histopathological examination.
View Article and Find Full Text PDFNavigating diagnostic dilemmas: a rare presentation of extramedullary T-lymphoblastic leukemia/lymphoma with chronic myeloid leukemia.
J Hematop
December 2024
Department of Pathology, Microbiology, and Immunology University of Nebraska Medical Center, Omaha, NE, USA.
Chronic myeloid leukemia (CML) typically presents in the chronic phase. The blast crisis phase in CML predominantly comprises the myeloid phenotype, while B-cell lymphoblastic crisis is common among the lymphoid lineages. Presentation as a T-lymphoblastic crisis is exceptionally rare.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!