Tetraploidy/near-tetraploidy acute myeloid leukemia
Introduction
Tetraploidy (4n, 92 chromosomes) without other numerical or structural abnormalities is occasionally observed at a low level in normal bone marrow (BM), likely representing mitotic megakaryocytes [1] or cells at anaphase stage in which paired sister chromatids are separated. Tetraploidy or near tetraploidy (T/NT) (81–103 chromosomes) karyotype with numerical and structural abnormalities is often associated with tumorigenesis and has been reported in acute myeloid leukemia (AML) [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], acute lymphoblastic leukemia (1–2%) [12], T- or B-cell lymphomas [13], [14], and solid tumors [15].
T/NT karyotype is rare in AML and only single cases or small case series have been reported to date. In these case reports, T/NT AML has been described to occur preferentially in elderly male patients and is morphologically featured by large blasts. However, due to its rarity, the clinical significance and prognostic value of T/NT karyotype in AML is not well defined. In many studies, a T/NT karyotype was categorized as a complex karyotype which belongs to high-risk cytogenetic group, however, some reports have described patients with T/NT AML experiencing a similar outcomes as patients with intermediate-risk group [2], [4].
To better characterize the clinical behavior and pathological features of T/NT AML, we searched the database for all AML patients with a T/NT karyotype at our institution in the past 15 years and identified 38 patients. We present the clinicopathologic and cytogenetic findings in these patients and correlate with patients’ outcomes.
Section snippets
Patients
We searched the database of the Clinical Cytogenetics Laboratory at The University of Texas MD Anderson Cancer Center (MDACC), for all cases with T/NT karyotype between the years of 2000–2015. We then focused on patients with a diagnosis of AML. Tetraploid metaphase (96 chromosomes) without any structural or numerical abnormalities involving 1–2 metaphases could be occasionally (0.5% of cases based on our lab records) observed in AML bone marrow culture. These tetraploid metaphases are usually
Patients
A total of 38 patients with AML and T/NT karyotype were identified during a 15-year period, comprising ∼0.7% of all AML patients during this interval at our institution. These patients included 26 (68%) men and 12 (32%) women with a median age of 65 years (range, 21–88) (Table 1). Nine (24%) patients had a proceeding clinical history of myelodysplastic syndromes (MDS) with transformation to AML after a median interval of 6 months (range, 1–101 months), T/NT karyotype was detected at the time or
Discussion
T/NT karyotype is a rare cytogenetic finding in AML, occurring in 0.7–1.2% of adult AML patients based on our data and other studies [7], [8]. Patients with T/NT AML are typically of advanced age with male predominance, and the blasts have distinctive morphologic features. However, the prognosis of this group of patients is contextual, depending on other factors.
Cytogenetic abnormalities play an important prognostic role in AML patients and have been stratified into different risk groups. In
Disclosures/conflict of interest
The authors report no potential conflicts of interest.
Acknowledgements
The authors would like to thank colleagues from department of hematopathology and clinical cytogenetic laboratory for their great inputs.
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