PML‐RARA fusion resulting from a cryptic insertion of RARA gene into PML gene without the reciprocal RARA‐PML fusion: clinical, cytogenetic, and molecular characterization and prognosis. (26th April 2014)

• Record Type: Journal Article
• Authors: Fan, Hongxin; Ortega, Veronica; Fanasch, Hilal M.; Wang, Yao; Holder, Kenneth N.; Higgins, Russell A.; Mendiola, Christina; Mohamed, Gihan; Vadlamudi, Kumari; Velagaleti, Gopalrao
• Is Part Of: European journal of haematology. Volume 93:Number 4(2014:Oct.)
• Page Start: 354
• Page End: 358
• Publication Date: 2014-04-26
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Blood -- Periodicals; 616.15005
• DOI: 10.1111/ejh.12326
• Languages: English
• ISSNs: 0902-4441

Abstract

<abstract abstract-type="main" id="ejh12326-abs-0001"> <title>Abstract</title> <p>We describe a case of acute promyelocytic leukemia in a 61‐yr‐old woman with a cryptic insertion of <italic>RARA</italic> gene into <italic>PML</italic> gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML‐RARA transcript and lack of the reciprocal RARA‐PML transcript. Although such cryptic insertions leading to a PML‐RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).</p> </abstract>