Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review

Abstract

Background: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared with recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group but is very rare and typically associated with poor prognosis.

Methods: Conventional cytogenetic studies were performed among 1,824 AML patients recorded in our oncology database over the last 20 years. Fluorescence in situ hybridization (FISH) was carried out to detect the translocation fusion. Array comparative genome hybridization (aCGH) was carried out to further characterize the duplication of chromosomes.

Results: We identified three AML patients with t(8;16)(p11.2;p13.3) by chromosome analysis. Two of the three patients, who harbored an additional 1q duplication, were detected by FISH and aCGH. aCGH characterized a 46.7 Mb and 49.9 Mb gain in chromosome 1 at band q32.1q44 separately in these two patients. One patient achieved complete remission (CR) but relapsed 3 months later. The other patient never experienced CR and died 2 years after diagnosis.

Conclusion: A 1q duplication was detected in two of three AML patients with t(8;16)(p11.2;p13.3), suggesting that 1q duplication can be a recurrent event in AML patients with t(8;16). In concert with the findings of previous studies on similar patients, our work suggests that 1q duplication may also be an unfavorable prognostic factor of the disease.

Keywords: 1q duplication; Acute myeloid leukemia; Prognostic factor; t(8;16)(p11.2;p13.3).

Fig. 1

Representative abnormal karyotypes of three patients with t(8;16)(p11.2;p13.3). a Karyotype of patient 1 showing 46,XY,t(8;16)(p11.2;p13.3) as the sole abnormality; b and c Karyotypes of patients 2 and 3 showing 46,XX,t(8;16)(p11.2;p13.3) and an additional chromosome segment attached to the short arm of chromosome 14 and the long arm of chromosome 3, respectively. Translocated derivatives 8 and 16 are indicated by black arrows, and derivatives 14 and 3 are indicated by red arrows

Fig. 1

Representative abnormal karyotypes of three patients with t(8;16)(p11.2;p13.3). a Karyotype of patient 1 showing 46,XY,t(8;16)(p11.2;p13.3) as the sole abnormality; b and c Karyotypes of patients 2 and 3 showing 46,XX,t(8;16)(p11.2;p13.3) and an additional chromosome segment attached to the short arm of chromosome 14 and the long arm of chromosome 3, respectively. Translocated derivatives 8 and 16 are indicated by black arrows, and derivatives 14 and 3 are indicated by red arrows

Fig. 2

Metaphase FISH of patient 2 (a) and 3 (c) showing KAT6A/CREBBP fusion signals. WCP FISH indicating the extra chromosomal materials on chromosome 14 and chromosome 3 were both from chromosome 1 (b and d). No loss of the end portion of the chromosome 3 long arm was indicated (e)

Fig. 3

aCGH results of patient 2 and patient 3 showing partial 1q gain; duplicated 1q regions are indicated by red frames