Diagnosis of variant RARA translocation using standard dual-color dual-fusion PML/RARA FISH probes: An illustrative report.
Acute promyelocytic leukemia (APML) with variant RARa translocations comprises 1-2% of APML cases. However, the diagnosis of these cases is challenging as the routine practice includes fluorescence in situ hybridization (FISH) reverse transcription polymerase chain reaction targeting the PML and RARA genes to detect PML/RARA fusions. Here, we report a case highlighting the importance of atypical FISH signal patterns in standard dual-color dual-fusion PML/RARa FISH analysis complimented by karyotyping to detect these variant RARA translocations.
Department of Cytogenetics, Tata Medical Center, Kolkata, India.
Manish Kumar
MK
Singh
Department of Cytogenetics, Tata Medical Center, Kolkata, India; Department of Laboratory Hematology, Tata Medical Center, Kolkata, India. Electronic address: mayurparihar@gmail.com.
Mayur
M
Parihar
Department of Laboratory Hematology, Tata Medical Center, Kolkata, India; Department of Molecular Genetics, Tata Medical Center, Kolkata, India.
Neeraj
N
Arora
Department of Laboratory Hematology, Tata Medical Center, Kolkata, India; Department of Molecular Genetics, Tata Medical Center, Kolkata, India.
Deepak Kumar
DK
Mishra
Department of Clinical Hematology, Tata Medical Center, Kolkata, India.
Saurabh Jayant
SJ
Bhave
Department of Clinical Hematology, Tata Medical Center, Kolkata, India.
Mammen
M
Chandy
D000328:Adult; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
APML variant translocation; PML/RARa FISH