AMP case report: Acute myeloid leukemia with hyperdiploidy

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In conclusion, the exact prognostic significance of hyperdiploidy in myeloid malignancies is undetermined. Paving the way forward, the information provided in the current study contributes to potentially helping to predict the outcome of patients with similar abnormalities and to build the global repository of such unusual genetic changes.

1. Shetty A, Cortes JE, Ravandi F, et al. Hyperdiploidy in AML: outcomes of acute myelogenous leukemia (AML) patients (pts) with a hyperdiploid karyotype. J Clin Oncol. 2014;32(15)(suppl):7088.
2. Iyer RV, Sait SNJ, Matsui S, et al. Massive hyper­diploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome. Cancer Genet Cytogenet. 2004;148(1):29–34.
3. Chilton L, Hills RK, Harrison CJ, Burnett AK, Grimwade D, Moorman AV. Hyperdiploidy with 49–65 chromosomes represents a heterogeneous cytogenetic subgroup of acute myeloid leukemia with differential outcome. Leukemia. 2013;28(2):321–328.
4. Rea B, Aggarwal N, Yatsenko SA, Bailey N, Liu YC. Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q). Mod Pathol. 2020;33(4):566–575.

Dr. Ansar is assistant professor and consultant, section of molecular pathology; Dr. Alam is a consultant in hematology; Dr. Shariq is assistant professor and head, section of hematology; Dr. Hayat is senior instructor, section of hematology; Dr. Nasir is assistant professor, section of molecular pathology; and Dr. Moatter is professor, section of molecular pathology—all in the Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.

Test yourself

Here are three questions taken from the case report. Answers are online now at www.amp.org/casereports and will be published next month in CAP TODAY.

1. Trisomy of which chromosome(s) is the most common in acute myeloid leukemia?
a. Chromosomes 8, 11, 13, 21, and 22.
b. Chromosomes 2, 5, 9, and 10.
c. Chromosome 12.

2. Which of the following is true regarding cytogenetic and molecular markers of AML and its risk stratification?
a. Recurrent translocations and unbalanced cytogenetics are used by the WHO to classify AML as favorable, unfavorable, and intermediate risk.
b. Hyperdiploid karyotype defines a distinct subtype of de novo AML under the WHO classification.
c. MLL and TP53 gene mutations are of favorable prognostic significance in AML patients.

3. The characteristic translocation seen in acute promyelocytic leukemia is:
a. t(15;17)
b. t(5;17)
c. t(11;17)