PML-RARA fusion resulting from a cryptic insertion ofRARAgene intoPMLgene without the reciprocal RARA-PML fusion: clinical, cytogenetic, and molecular characterization and prognosis

Autor:	Christina Mendiola, Gopalrao V.N. Velagaleti, Veronica Ortega, Kumari Vadlamudi, Russell A. Higgins, Gihan Mohamed, Kenneth N. Holder, Yao Wang, Hilal M. Fanasch, Hongxin Fan
Rok vydání:	2014
Předmět:	Acute promyelocytic leukemia Oncogene Proteins Fusion viruses Abnormal Karyotype Translocation Genetic Immunophenotyping Promyelocytic leukemia protein Leukemia Promyelocytic Acute Bone Marrow medicine Humans Gene In Situ Hybridization Fluorescence Genetics biology medicine.diagnostic_test virus diseases Karyotype Hematology General Medicine Middle Aged Prognosis medicine.disease Molecular biology Mutagenesis Insertional Cytogenetic Analysis biology.protein Female Fluorescence in situ hybridization
Zdroj:	European Journal of Haematology. 93:354-358
ISSN:	0902-4441
DOI:	10.1111/ejh.12326
Popis:	We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML 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).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa0d4d433246e74084469d0230dda311 https://doi.org/10.1111/ejh.12326 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.