The diagnostic profile of rare acute myelomegakaryoblastic leukemia

Abstract

Acute myelomagakaryocytic leukemia is a diagnostic and therapeutic challenge owing to its heterogeneity and overlapping features with other types of acute leukemia. In order to build a diagnostic profile, we analyzed the biological, clinical and hematologic characteristics of acute myelomagakaryocytic leukemia. We found that, in three patients diagnosed with acute myelomagakaryocytic leukemia, there were two types of leukemia cells. One type was myeloblastic with positive peroxidase (POX) stainig and the expression of antigens CD13 and CD33. The other type was megakaryoblastic with negative POX staining and the expression of antigens CD36, CD41, CD42a and CD61. Three patients displayed the same cytogenetic abnormality, a (9: 22) translocation. Among the three patients with RT-PCR, two patients displayed BCR-ABL fusion gene amplification and one patient showed a previously undescribed OTT-MAL fusion gene amplification.

Keywords:

• Acute myelomagakaryocytic leukemia
• genetic mutation
• diagnosis

Acknowledgements

The authors are grateful to Shantou University Medical College.

Ethics approval

The study protocols were conducted according to the principles of the Declaration of Helsinki and were approved by the Scientific and Medical Ethical Committee of the Second Affiliated Hospital of Shantou University Medical College.

Consent for publication

Written informed consent for publication was obtained from all participants.

Disclosure statement

The authors declare that they have no competing interests.

Author contributions

Jun Yin was responsible for conceiving the ideas. Daming Xu and Wenjun Yu wrote the manuscript. Long Xie, Zewen Zhang and Jinfeng Qiu were responsible for collecting experimental data. Chengwei Xu, Chunling He and Xianru Xu were responsible for making the figures and tables. Jiesong Xu and Qian Li provided critical input on the manuscript. All authors read and approved the final manuscript.