Acute Myelogenus Leukemia (AML)
Acute Myelogenus Leukemia (AML) is a rapidly advancing disease characterized by the clonal expansion of myeloid precursors in the bone marrow and consequential displacement of normal hematopoietic cells.
Molecular Assays:
PML-RARa: Acute Promyelocytic Leukemia (APL) accounts for 10-15% of Acute Myelogenus Leukemia (AML) and is one of the most curable forms of leukemia with good sensitivity to all-trans retinoic acid (ATRA). Nearly all APL cases are characterized by the presence of the PML-RARa t(15;17) fusion gene transcript which is required for ATRA treatment response. Researchers have identified the utility of measuring PML-RARa transcripts to aid in the classification of APL, predicting treatment response, and monitoring minimal residual disease (MRD).1,2
FISH Assays:
ERG-BA: In AML, ERG function is deregulated due to a fusion with FUS/TLS resulting in the expression of a FUS–ERG fusion protein. Results suggest that FUS–ERG acts as a transcriptional repressor of the retinoic acid signaling pathway.3
Polysomy 8: Studies have shown that polysomy 8 in AML, MDS, and MPD are characterized by a high incidence of secondary diseases, myelomonocytic or monocytic involvement in AML and poor overall survival.4
References
- Cull EH, Altman JK. Contemporary Treatment of APL. Current hematologic malignancy reports. 2014;9(2):193-201. doi:10.1007/s11899-014-0205-6.
- Lo-Coco F, Cicconi L. History of Acute Promyelocytic Leukemia: A Tale of Endless Revolution. Mediterranean Journal of Hematology and Infectious Diseases. 2011;3(1):e2011067. doi:10.4084/MJHID.2011.067.
- Sotoca AM, Prange KH, Reijnders B, Mandoli A, Nguyen LN, Stunnenberg HG,Martens JH. The oncofusion protein FUS-ERG targets key hematopoietic regulators and modulates the all-trans retinoic acid signaling pathway in t(16;21) acute myeloid leukemia. Oncogene. 2016 Apr 14;35(15):1965-76. doi: 10.1038/onc.2015.261. Epub 2015 Jul 6. PubMed PMID: 26148230; PubMed Central PMCID: PMC4833872.
- Beyer V, Mühlematter D, Parlier V, Cabrol C, Bougeon-Mamin S, Solenthaler M,Tobler A, Pugin P, Gregor M, Hitz F, Hess U, Chapuis B, Laurencet F, Schanz U,Schmidt PM, van Melle G, Jotterand M. Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases. Cancer Genet Cytogenet. 2005 Jul 15;160(2):97-119. Review. PubMed PMID:15993266.