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

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. Al...

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Bibliographic Details
Published in:European journal of haematology 2014-10, Vol.93 (4), p.354-358
Main Authors: Fan, Hongxin, Ortega, Veronica, Fanasch, Hilal M., Wang, Yao, Holder, Kenneth N., Higgins, Russell A., Mendiola, Christina, Mohamed, Gihan, Vadlamudi, Kumari, Velagaleti, Gopalrao
Format: Article
Language:English
Subjects:
Abnormal Karyotype
acute promyelocytic leukemia
Bone Marrow - pathology
cryptic PML‐RARA
Cytogenetic Analysis
Female
fluorescence in situ hybridization
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
karyotype
Leukemia, Promyelocytic, Acute - diagnosis
Leukemia, Promyelocytic, Acute - genetics
Middle Aged
Mutagenesis, Insertional
Oncogene Proteins, Fusion - genetics
Prognosis
reverse transcriptase‐polymerase chain reaction
Translocation, Genetic
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Summary: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).
ISSN:0902-4441
1600-0609
DOI:10.1111/ejh.12326