t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review

Bingbing Han; Yu Jing; Xiaoyu Bi; Yani Lin; Huilan Li; Hongyu Li; Kun Ru; Shaobin Yang

doi:10.1016/j.cancergen.2024.03.003

t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review

Cancer Genet. 2024 Mar 6:284-285:1-4. doi: 10.1016/j.cancergen.2024.03.003. Online ahead of print.

Authors

Bingbing Han¹, Yu Jing², Xiaoyu Bi¹, Yani Lin¹, Huilan Li¹, Hongyu Li¹, Kun Ru³, Shaobin Yang⁴

Affiliations

¹ Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-aided Hematopathology Diagnosis, 5 Xinghua No.3 branch road, Tianjin, China.
² Department of Haematology, The Fifth Medical centre of Chinese PLA General Hospital, Beijing, China.
³ Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-aided Hematopathology Diagnosis, 5 Xinghua No.3 branch road, Tianjin, China; Department of Pathology and Lab Medicine, Shandong Cancer Hospital, Jinan, Shandong, China.
⁴ Sino-US Diagnostics Lab, Tianjin Enterprise Key Laboratory of Al-aided Hematopathology Diagnosis, 5 Xinghua No.3 branch road, Tianjin, China. Electronic address: hbyangshaobin@163.com.

PMID: 38460349
DOI: 10.1016/j.cancergen.2024.03.003

Abstract

Chromosomal translocation serves as a crucial diagnostic marker in the classification of acute myeloid leukemia. Among the most prevalent cytogenetic abnormalities is t(8;21)(q22;q22), typically associated with the FAB subtype AML-M2. On occasion, alternative forms of t(8;21) have been observed. This report presents a case of AML with RUNX1::RUNX1T1, wherein the karyotype revealed t(2;2;21;8)(p21;q37;q22;q22), representing the first instance of a variant t(8;21) involving both chromosomes 2. The combination of routine karyotype analysis and fluorescence in situ hybridization proves to be an effective method for identifying complex translocations of t(8;21).

Keywords: AML; Four-way translocation; RUNX1::RUNX1T1; t(8:21) variant.

Publication types

Case Reports