Diagnosis of variant RARA translocation using standard dual-color dual-fusion PML/RARA FISH probes: An illustrative report | Zendy

Manish Kumar Singh | Zendy; Mayur Parihar | Zendy; Neeraj Arora | Zendy; Deepak Kumar Mishra | Zendy; Saurabh Jayant Bhave | Zendy; Mammen Chandy | Zendy

Open Access

Diagnosis of variant RARA translocation using standard dual-color dual-fusion PML/RARA FISH probes: An illustrative report

Author(s) -

Manish Kumar Singh,

Mayur Parihar,

Neeraj Arora,

Deepak Kumar Mishra,

Saurabh Jayant Bhave,

Mammen Chandy

Publication year - 2017

Publication title -

hematology/oncology and stem cell therapy

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.666

H-Index - 22

eISSN - 1658-3876

pISSN - 2589-0646

DOI - 10.1016/j.hemonc.2016.12.003

Subject(s) - chromosomal translocation , fish <actinopterygii> , fluorescence in situ hybridization , acute promyelocytic leukemia , dual (grammatical number) , fusion gene , biology , computational biology , gene , genetics , fishery , retinoic acid , chromosome , art , literature

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.

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