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Acute Myeloid Leukemia


Detection of chromosomal translocations has proven crucial for diagnosis and management of acute myeloid leukemia (AML), a cancer known to harbor several distinct gene rearrangements that correlate with disease subtype. In this study, an AML patient was genetically profiled using both conventional karyotyping and next generation sequencing techniques. FISH was also used to detect NUP98 translocations using Empire Genomics’ NUP98 break-apart probe.

Published: 10/31/2019

Related Probes: NUP98 Break Apart Fish Probe


Although several RUNX1-USP42 fusions have been described in acute myeloid leukemia (AML), the clinical effects of this abnormality remain poorly understood. The few reported cases have harbored additional genetic abnormalities, the most frequent being 5q deletions. This study reported on 3 cases of pediatric RUNX1-USP42-fused AML. Empire Genomics RUNX1 break apart probe and RUNX1-USP42 fusion probe were used to detect rearrangements of the genes. Co-occurring genetic aberrations included del(5q) and cnLOH of 11p. Results point to the fusion as a rare but recurrent mutation in pediatric AML, with distinct accompanying mutations.

Published: 12/31/2018

Related Probes: RUNX1-USP42 Break Apart Fish Probe


Aberrations in the RUNX1 gene have been associated with familial platelet disorder and leave the patient predisposed to acute myeloid leukemia. By analyzing the genetics of abnormal chromosomes 21, the genetic aberrations of RUNX1 can be detected. Among other forms of analysis, our 21q21.1 FISH probe was used to show that a regular chromosome 21 had one band, whereas a circular chromosome 21 had two copies of the band.

Published: 10/31/2018

Related Probes: 21q21.1 Fish Probe


This study investigated a case of myeloid sarcoma (MS), a rare tumor often misdiagnosed as malignant lymphoma, that developed into acute myeloid leukemia (AML). Along with pathologic, morphologic, and immunophenotypic characterization, FISH was used to screen for cytogenetic abnormalities. Our MLLT10 helped detect a rare PICALM-MLLT10 fusion in the patient, an abnormality consistent with disease progression to AML.

Published: 09/30/2018

Related Probes: MLLT10 Break Apart Fish Probe


Amplification with double minutes (DM) of the JAK2 gene could potentially accelerate the progression of leukemia. FISH analysis was used in conjunction with SNP microarray to observe the effects of the amplification. FISH was performed using our JAK2 probe, showing multiple copies of JAK2 residing on the DMs. It was concluded that amplification of JAK2 could indeed contribute to progression of the disease.

Published: 07/31/2018

Related Probes: JAK2 Fish Probe


Acute myeloid leukemia (AML) is commonly characterized by a chromosomal rearrangement of KMT2A. Up to 94 translocation partner genes have been identified thus far. This case study focuses on a rare gene translocation of KMT2A with SEPT5. FISH analysis was performed with two probes including our SEPT5 probe. FISH confirmed rearrangement of the KMT2A and SEPT5 genes. The study concluded that they had a new case of AML KMT2A-SEPT5 fusion, making it one of nine reported cases.

Published: 12/31/2017

Related Probes: SEPT5 Fish Probe