Back to Search
Start Over
Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform
- Source :
- Cancer Genetics. :57-60
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- The cornerstone of management in patients with acute promyelocytic leukemia (APL) is early diagnosis and prompt initiation of treatment with an all-trans retinoic acid (ATRA)-based regimen. Identification of the t(15;17)(PML-RARA) chromosomal translocation through conventional cytogenetics fluorescence in-situ hybridization (FISH) or detection of the promyelocytic leukemia-retinoic acid receptor alpha (PML-RARα) fusion through RT-PCR represent the current standard of care for diagnosing APL. However, about 1–2% of patients with APL have a variant translocation involving other fusion partners with RARα besides PML. These patients present a unique diagnostic and clinical challenge in that conventional cytogenetics in addition to FISH and/or RT-PCR for PML-RARα may fail to identify these clinically relevant genetic lesions leading to an inappropriate diagnosis and treatment. We present two cases of patients who had APL with variant translocations whose bone marrow specimens were sent to the University of Michigan for enrollment in the MI-ONCOSEQ study (HUM00067928) after standard testing failed to identify PML-RARα or t(15;17) despite a phenotypic concern for this diagnosis. In these two patients, whole exome and transcriptome profiling via the MI-ONCOSEQ platform identified a PRKAR1A-RARα fusion in one patient and ZBTB16-RARα fusion in another patient. These cases illustrate the utility of whole exome and transcriptome profiling in diagnosing variant translocations in patients in whom there is a high clinical suspicion for APL based on hematopathology review.
- Subjects :
- Adult
Acute promyelocytic leukemia
Cancer Research
medicine.medical_specialty
Oncogene Proteins, Fusion
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Retinoic acid
Chromosomal translocation
Biology
Bioinformatics
Translocation, Genetic
Young Adult
chemistry.chemical_compound
Leukemia, Promyelocytic, Acute
Genetics
medicine
Humans
Molecular Biology
Exome
PRKAR1A
Aged
Gene Rearrangement
Retinoic Acid Receptor alpha
Prognosis
medicine.disease
Regimen
medicine.anatomical_structure
chemistry
Female
Bone marrow
Hematopathology
Subjects
Details
- ISSN :
- 22107762
- Database :
- OpenAIRE
- Journal :
- Cancer Genetics
- Accession number :
- edsair.doi.dedup.....53ccf1e3593b81b9b5d623e5238b3cf2