Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies, including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements are more often observed in acute lymphoblastic leukemia than in acute myeloid leukemia (AML), where ETV6 gene deletions are more common than rearrangements. Here, we report an AML case with the recurrent t(10; 12) (q24; p13) as the sole abnormality. Fluorescence in situ hybridization with mapping back to metaphases confirmed that the ETV6 gene splits, and rearranges with a locus at 10q24. In review of the literature, this is the first report of AML case with the novel abnormality as the sole change. Complete laboratory findings from bone marrow examination, flow cytometry analysis, cytogenetic studies, molecular analysis, and clinical features are also described in the report.
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Blood Adv
January 2025
Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London, United Kingdom, London, United Kingdom.
Immune Thrombocytopenia (ITP) is a heterogenous autoimmune disorder diagnosed by excluding other conditions. Misdiagnosis of primary ITP occurs in patients with inherited thrombocytopenia and primary immunodeficiency syndromes. This study investigates whether genetic testing for inherited thrombocytopenia or primary immunodeficiency can enhance diagnostic accuracy in ITP, and guide treatment strategies.
View Article and Find Full Text PDFCells
December 2024
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Mutations in the genes , , and cause three clinically overlapping thrombocytopenias characterized by a predisposition to hematological neoplasms. The gene, which encodes a protein involved in protein-protein interactions, is downregulated by RUNX1 during megakaryopoiesis. Mutations in 5'UTR of ANKRD26, leading to ANKRD26-RT, disrupt this regulation, resulting in the persistent expression of ANKRD26, which leads to impaired platelet biogenesis and an increased risk of leukemia.
View Article and Find Full Text PDFINTRODUCTION ETV6::JAK2 is a fusion known to drive Acute Lymphoblastic Leukaemia (ALL) in the presence of other genomic lesions which define the JAK/STAT class of Philadelphia-like Acute Lymphoblastic Leukaemia (Ph-like ALL). Ph-like ALL comprises approximately 15% of ALL. Patients with mutations or gene fusions signaling through the JAK/STAT pathway have particularly poor prognosis.
View Article and Find Full Text PDFFront Oncol
December 2024
Department of Hematology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China.
Acute myeloid leukemia (AML), which is most common in adults, is a challenging hematological malignancy. The occurrence and the progression of AML are often accompanied by various gene fusions and/or mutations. Herein, we report the first case of a fusion transcript with a translocation of (1;12)(q25;p13) in AML progressed from myelodysplastic syndrome (MDS) combined with an -ITD (internal tandem duplication) mutation.
View Article and Find Full Text PDFAnn 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.
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