In this study we demonstrate the feasibility of chromosomal in situ suppression (CISS) hybridization to detect the translocation t(15; 17) in metaphase spreads of patients with acute promyelocytic leukemia. Using DNA libraries from sorted human chromosomes 15 and 17 the translocation t(15; 17) can be unequivocally identified even if the spread and the morphology of the chromosomes are poor. The sensitivity of CISS hybridization is compared with the sensitivity of conventional G-banded karyotypes.
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http://dx.doi.org/10.1016/0145-2126(93)90024-f | DOI Listing |
Cancers (Basel)
December 2024
Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy.
Acute promyelocytic leukemia (APL) is a rare type of AML, characterized by the t(15;17) translocation and accounting for 8-15% of cases. The introduction of target therapies, such as all-trans retinoic acid (ATRA) and arsenic trioxide (ATO), radically changed the management of APL, making it the most curable AML subtype. However, a small percentage (estimated to be 2%) of AML presenting with APL-like morphology and/or immunophenotype lacks t(15;17).
View Article and Find Full Text PDFLeuk Res Rep
November 2024
Hematology Laboratory, Central laboratory, Mohammed VI University Hospital, Oujda, Morocco.
Introduction: Acute promyelocytic leukemia (AML-M3), classified as acute Myeloid leukemia with PML RARA according to the 5th edition of the World Health Organization classification of haematolymphoid tumors 2022 [1], is marked by abnormal promyelocyte proliferation and is known for high risks of bleeding and thromboembolic complications. We present a case where lower limb ischemia revealed this leukemia in a child.
Case Report: An 11-year-old with minor ankle trauma developed severe lower limb ischemia, leading to the discovery of subtotal femoral artery thrombosis.
Genes (Basel)
October 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a :: fusion. Once diagnosed, APL is now considered to be one of the most treatable forms of AML. However, without early detection and treatment, the disease is associated with rapid deterioration and lethal side effects.
View Article and Find Full Text PDFAm J Med Genet A
November 2024
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
View Article and Find Full Text PDFAcute promyelocytic leukaemia (APL), defined by the t(15;17)(q24;q21) translocation, accounts for 5%-10% of paediatric acute myeloid leukaemia cases. All-trans retinoic acid (ATRA) and arsenic trioxide (ATO) are key treatments, though ATO access varies. We evaluated treatment, complications and survival in 50 UK paediatric APL patients diagnosed between 2014 and 2021.
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