Search engine for discovering works of Art, research articles, and books related to Art and Culture
ShareThis
Javascript must be enabled to continue!

Optical Genome Mapping Reveals Complex and Cryptic Rearrangement Involving PML::RARA Fusion in Acute Promyelocytic Leukemia

View through CrossRef
Background/objectives: Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a PML::RARA fusion. Once diagnosed, APL is now considered to be one of the most treatable forms of AML. However, without early detection and treatment, the disease is associated with rapid deterioration and lethal side effects. Methods: We describe a case of diagnostic APL presenting with a normal karyotype, normal RARA break-apart FISH, and unclear, atypical PML/RARA FISH findings. We used optical genome mapping (OGM) to characterize this atypical PML/RARA fusion. Results: OGM allowed for detection of a PML::RARA fusion resulting from a cryptic and complex insertion of PML::RARA into RARA on 17q21.2 whereby a segment of 15q24.1 was inserted into the 17q21.2. The recipient breakpoint of the insertion was at intron 2 of the RARA gene and the donor breakpoint of the insertion was at exon 5/intron 6 of the PML gene. Conclusions: This is the first report of an insertional PML::RARA fusion into the RARA gene on 17q detected by OGM. OGM has demonstrated its utility in a clinical cytogenetics environment, allowing for clearer characterization and diagnosis of various neoplasms.
Title: Optical Genome Mapping Reveals Complex and Cryptic Rearrangement Involving PML::RARA Fusion in Acute Promyelocytic Leukemia
Description:
Background/objectives: Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a PML::RARA fusion.
Once diagnosed, APL is now considered to be one of the most treatable forms of AML.
However, without early detection and treatment, the disease is associated with rapid deterioration and lethal side effects.
Methods: We describe a case of diagnostic APL presenting with a normal karyotype, normal RARA break-apart FISH, and unclear, atypical PML/RARA FISH findings.
We used optical genome mapping (OGM) to characterize this atypical PML/RARA fusion.
Results: OGM allowed for detection of a PML::RARA fusion resulting from a cryptic and complex insertion of PML::RARA into RARA on 17q21.
2 whereby a segment of 15q24.
1 was inserted into the 17q21.
2.
The recipient breakpoint of the insertion was at intron 2 of the RARA gene and the donor breakpoint of the insertion was at exon 5/intron 6 of the PML gene.
Conclusions: This is the first report of an insertional PML::RARA fusion into the RARA gene on 17q detected by OGM.
OGM has demonstrated its utility in a clinical cytogenetics environment, allowing for clearer characterization and diagnosis of various neoplasms.

Related Results

Data from Characterization of Endogenous Human Promyelocytic Leukemia Isoforms
Data from Characterization of Endogenous Human Promyelocytic Leukemia Isoforms
<div>Abstract<p>Promyelocytic leukemia (<i>PML</i>) has been implicated in a variety of functions, including control of TP53 function and modulation of cell...
Data from Characterization of Endogenous Human Promyelocytic Leukemia Isoforms
Data from Characterization of Endogenous Human Promyelocytic Leukemia Isoforms
<div>Abstract<p>Promyelocytic leukemia (<i>PML</i>) has been implicated in a variety of functions, including control of TP53 function and modulation of cell...
Promyelocytic leukemia nuclear body-like structures can assemble in mouse oocytes
Promyelocytic leukemia nuclear body-like structures can assemble in mouse oocytes
ABSTRACT Promyelocytic leukemia (PML) nuclear bodies (PML-NBs), a class of membrane-less cellular organelles, participate in various biological activities. PML-NBs a...
Arsenic induces two different interaction modes of SUMO with promyelocytic leukemia (PML) proteins
Arsenic induces two different interaction modes of SUMO with promyelocytic leukemia (PML) proteins
Abstract Promyelocytic leukemia-nuclear bodies (PML-NBs) are dot-like protein assemblies and implicated in the pathogenesis of leukemia and viral...
PML-Rara/Nrf2-Regulated Mir-125b Targets CEBPA and Influences Acute Promyelocytic Leukemia Cell Proliferation
PML-Rara/Nrf2-Regulated Mir-125b Targets CEBPA and Influences Acute Promyelocytic Leukemia Cell Proliferation
Abstract Acute promyelocytic leukemia (APL) is characterized by the presence of PML-RARA fusion protein. The PML-RARA oncoprotein is known to be the initiating facto...
The PML gene is not involved in the regulation of MHC class I expression in human cell lines
The PML gene is not involved in the regulation of MHC class I expression in human cell lines
The promyelocytic leukemia gene, PML, is a growth and transformation suppressor. An additional role forPML as a regulator of major histocompatibility complex (MHC) class I antigen ...
Are Cervical Ribs Indicators of Childhood Cancer? A Narrative Review
Are Cervical Ribs Indicators of Childhood Cancer? A Narrative Review
Abstract A cervical rib (CR), also known as a supernumerary or extra rib, is an additional rib that forms above the first rib, resulting from the overgrowth of the transverse proce...

Back to Top