Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy. Despite receiving the protocol-guided induction chemotherapy, the patient did not respond favorably. The challenges in treating Ph-like T-ALL with rare genetic abnormalities, highlight the need of further research and personalized medication.
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http://dx.doi.org/10.1016/j.cancergen.2025.02.009 | DOI Listing |
Cancer Genet
February 2025
Anhui Provincial Children's Hospital & Children's Hospital of Fudan University Anhui Hospital, Hefei 230061, China.
Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy.
View Article and Find Full Text PDFJ Med Cases
September 2024
Department of Hematology and Oncology, University of Arizona, Tucson, AZ, USA.
The identification of a fusion has been seen in about 6% of patients with T lymphoblastic leukemia (T-ALL). It has been described at a lower frequency in B-lymphoblastic leukemia (B-ALL) patients as well. To our knowledge, this is the first case report documenting a fusion in a patient with newly diagnosed myelodysplastic syndrome (MDS) as identified by next-generation sequencing (NGS).
View Article and Find Full Text PDFLeukemia
November 2024
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland.
Chromothripsis (cth) is a form of genomic instability leading to massive de novo structural chromosome rearrangements in a one-time catastrophic event. It can cause cancer-promoting alterations, such as loss of sequences for tumor-suppressor genes, formation of oncogenic fusions, and oncogene amplifications. We investigated the genetic background and clinical significance of cth in childhood T-cell acute lymphoblastic leukemia (T-ALL) patients.
View Article and Find Full Text PDFFront Oncol
March 2024
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Introduction: Alterations of the gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.
Methods: We examined 9 cases of acute leukemia with rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.
Ann Lab Med
July 2024
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Background: The three best-known rearrangements found in leukemia (, and ) are associated with treatment resistance and poor prognosis. Mouse experiments have shown that rearrangements alone are insufficient for leukemogenesis; therefore, the identification of concurrent mutations is important for accurate assessment and tailored patient management. Here, we characterized the demographic characteristics and concurrent mutations in patients harboring rearrangements.
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