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

• Published in: Medicina (Kaunas, Lithuania) Lithuania), 2022-01, Vol.58 (1), p.105
• Main Authors: Milczarek, Sławomir, Studniak, Ewa, Baumert, Bartłomiej, Janowski, Michał, Bonda, Wioleta, Pietrzak, Joanna, Łanocha, Aleksandra, Paczkowska, Edyta, Zdziarska, Barbara, Machaliński, Bogusław
• Format: Article
• Language: English
• Subjects: AML; Anemia; Bone marrow; Case Report; Cell cycle; Chromosomes; Disease; familial aggregation; Family medical history; Female; Fibroblasts; Hematology; Humans; Karyotype; Leukemia; Leukemia, Myeloid, Acute - diagnosis; Leukemia, Myeloid, Acute - genetics; MPN; Mutation; Patients; Pedigree; Remission (Medicine); Stem cells; t(4; 11)(q21; q15); t(4; 8)(q32; q13); Translocation, Genetic; Transplants & implants; Tumors
• ISSN: 1648-9144; 1010-660X; 1648-9144
• DOI: 10.3390/medicina58010105

We 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.