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

Hongxin Fan; Veronica Ortega; Hilal M. Fanasch; Yao Wang; Kenneth N. Holder; Russell A. Higgins; Christina Mendiola; Gihan Mohamed; Kumari Vadlamudi; Gopalrao Velagaleti

doi:10.1111/ejh.12326

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

Hongxin Fan, Veronica Ortega, Hilal M. Fanasch, Yao Wang, Kenneth N. Holder, Russell A. Higgins, Christina Mendiola, Gihan Mohamed, Kumari Vadlamudi, Gopalrao Velagaleti

Department of Pathology

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4 Scopus citations

Abstract

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).

Original language	English (US)
Pages (from-to)	354-358
Number of pages	5
Journal	European Journal of Haematology
Volume	93
Issue number	4
DOIs	https://doi.org/10.1111/ejh.12326
State	Published - 2014

Keywords

Acute promyelocytic leukemia
Cryptic PML-RARA
Fluorescence in situ hybridization
Karyotype
Reverse transcriptase-polymerase chain reaction

ASJC Scopus subject areas

Hematology

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10.1111/ejh.12326

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Fan, H., Ortega, V., Fanasch, H. M., Wang, Y., Holder, K. N., Higgins, R. A., Mendiola, C., Mohamed, G., Vadlamudi, K., & Velagaleti, G. (2014). 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. European Journal of Haematology, 93(4), 354-358. https://doi.org/10.1111/ejh.12326

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. / Fan, Hongxin; Ortega, Veronica; Fanasch, Hilal M. et al.
In: European Journal of Haematology, Vol. 93, No. 4, 2014, p. 354-358.

Research output: Contribution to journal › Article › peer-review

Fan, H, Ortega, V, Fanasch, HM, Wang, Y, Holder, KN , Higgins, RA, Mendiola, C, Mohamed, G, Vadlamudi, K & Velagaleti, G 2014, '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', European Journal of Haematology, vol. 93, no. 4, pp. 354-358. https://doi.org/10.1111/ejh.12326

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abstract = "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).",

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AB - 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).

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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

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ASJC Scopus subject areas

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