Acute promyelocytic leukemia (APML) with variant RARa translocations comprises 1-2% of APML cases. However, the diagnosis of these cases is challenging as the routine practice includes fluorescence in situ hybridization (FISH) reverse transcription polymerase chain reaction targeting the PML and RARA genes to detect PML/RARA fusions. Here, we report a case highlighting the importance of atypical FISH signal patterns in standard dual-color dual-fusion PML/RARa FISH analysis complimented by karyotyping to detect these variant RARA translocations.
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http://dx.doi.org/10.1016/j.hemonc.2016.12.003 | DOI Listing |
Leuk 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.
Hematology
December 2024
Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Leuk Res Rep
September 2024
Research Center of Translational Medicine, Central Hospital Affiliated to Shandong First Medical University Jinan, Shandong, PR China.
Virchows Arch
August 2024
Department of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, 266000, China.
Fusion genes generally serve as driver mutations in leukemia. The rearrangement of the RARA gene located on chromosome 17q21 is a molecular pathological feature of acute promyelocytic leukemia (APL). A series of RARA-involved fusion genes have been identified in variant APL, including one carrying the t(11;17)(q13;q21) translocation, resulting in the NUMA1::RARA fusion gene.
View Article and Find Full Text PDFCancer Genet
August 2024
Ege University Hospital, Department of Medical Genetics, Izmir 35100, Turkey.
The present study described an extremely rare case of acute promyelocytic leukemia (APL) characterized by a complex three‑way (15;22;17)(q22;q11.2;q21) translocation. Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia with distinctive clinical and therapeutic characteristics.
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