• What is PML-RARA?
  • PML-RARA in Acute Myeloid Leukemia
  • Clinical Trials


Promyelocytic leukemia (PML), is a gene that encodes for a transcription factor and tumor suppressor protein (Gene 2013a). PML is involved in rearrangements observed in AML, particularly APL (acute promyelocytic leukemia).

Retinoic acid receptor, alpha (RARA) is a gene that encodes for a nuclear retinoic acid receptor, a transcription regulating protein (Gene 2013b). In cancer, rearrangements involving RARA have been observed in AML and APL. Its role is also being investigated in gastric and other cancers.

The PML-RARA fusion has been observed in most cases of APL.

Contributors: Adam Seegmiller, M.D., Ph.D., Madan Jagasia, M.B.B.S., M.S.

Suggested Citation: Seegmiller, A., M. Jagasia. 2013. PML-RARA. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/pml-rara/?tab=0 (Updated June 4).

Last Updated: June 4, 2013

PML-RARA Fusion Gene in Acute Myeloid Leukemia

The PML-RARA fusion gene, t(15;17)(q24.1;21.1), is the primary cytogenetic abnormality leading to acute promyelocytic leukemia, a sub-type of AML. PML-RARA fusion proteins exhibit altered transcription factor behavior compared to wild type PML and RARA. Additional mutations may be required for leukemogenesis (Reiter, Lengfelder, and Grimwade 2004).​ PML-RARA fusion genes fall into class II of the “two-hit” theory of leukemogenesis (Naoe and Kiyoi 2013).


Contributors: Adam Seegmiller, M.D., Ph.D., Madan Jagasia, M.B.B.S., M.S., Scott Wheeler, Ph.D. (through June 2014), Cindy L. Vnencak-Jones, Ph.D.

Suggested Citation: Seegmiller, A., M. Jagasia, S. Wheeler, C. Vnencak-Jones. 2013. PML-RARA Fusion Gene in Acute Myeloid Leukemia. My Cancer Genome https://www.padiracinnovation.org/content/disease/acute-myeloid-leukemia/pml-rara/ (Updated September 9).

Last Updated: September 9, 2013

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