title: Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.
abstract: The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.
authors.affiliation: Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, South Korea.
authors.forename: John J
authors.initials: JJ
authors.lastname: Yang
authors.affiliation: Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, South Korea. 153jesus@hanmail.net.
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.affiliation: Haematology Division, Department of Anatomical & Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.
authors.forename: Thomas S K
authors.initials: TS
authors.lastname: Wan
mesh_terms: D002471:Cell Transformation, Neoplastic; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion
keywords: Acute myeloid leukemia; Chromosomal abnormality; Leukemogenesis; WHO classification