• Medicina · Jan 2022

    Case Reports

    Case of Patient with AML with Complex Karyotype including Ultra-Rare t(4;8)(q32;q13), t(4;11)(q21;p15) and Familial Aggregation of Myeloid Malignancies.

    • Sławomir Milczarek, Ewa Studniak, Bartłomiej Baumert, Michał Janowski, Wioleta Bonda, Joanna Pietrzak, Aleksandra Łanocha, Edyta Paczkowska, Barbara Zdziarska, and Bogusław Machaliński.
    • Department of General Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland.
    • Medicina (Kaunas). 2022 Jan 10; 58 (1).

    AbstractWe present a unique case of a young woman with acute myeloid leukemia (AML) with complex karyotype. The presence of the t(4;11)(q23;p15) is extremely rare in myeloid leukemias, while t(4;8)(q32;q13) has not yet been described in any leukemia reference. Another interesting issue is the familial aggregation of myeloid malignancies and worse course of the disease in each subsequent generation, as well as an earlier onset of the disease. Our report emphasizes the need for thorough pedigree examination upon myeloid malignancy diagnosis as there are relatives for whom counseling, gene testing, and surveillance may be highly advisable.

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