2010
DOI: 10.1182/blood-2010-01-264432
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BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia

Abstract: The majority of acute promyelocytic leukemia (APL) cases are characterized by the presence of a promyelocytic leukemia-retinoic acid receptor alpha(RARA) fusion gene. In a small subset, RARA is fused to a different partner, usually involved in regulating cell growth and differentiation. Here, we identified a novel RARA fusion transcript, BCOR-RARA, in a t(X;17)(p11;q12) variant of APL with unique morphologic features, including rectangular and round cytoplasmic inclusion bodies. Although the patient was clinic… Show more

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Cited by 127 publications
(89 citation statements)
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“…However, we cannot rule out that BCOR Xa methylation has a role in sexual dimorphic gene expression in specific cell types or below the detection level of our sample size. We note that BCOR is subject to recurrent somatic point mutations 24,25 or translocations 28,29 in a range of cancer sub-types.…”
Section: Xa-specific Methylation Is Associated With Genesmentioning
confidence: 99%
“…However, we cannot rule out that BCOR Xa methylation has a role in sexual dimorphic gene expression in specific cell types or below the detection level of our sample size. We note that BCOR is subject to recurrent somatic point mutations 24,25 or translocations 28,29 in a range of cancer sub-types.…”
Section: Xa-specific Methylation Is Associated With Genesmentioning
confidence: 99%
“…One patient with acute promyelocytic leukemia (APL) has been reported to carry the 45,-Y,t(X;17)(p11;q12) karyotype, leading to the formation of a BCOR-RAR alpha fusion gene. 17 Compared to typical APL cases with t(15;17), this patient showed distinct morphological features, i.e. rectangular body inclusions in the cytoplasm of leukemic cells and an atypical clinical course characterized by multiple relapses following chemotherapy plus all-transretinoic acid.…”
mentioning
confidence: 99%
“…rectangular body inclusions in the cytoplasm of leukemic cells and an atypical clinical course characterized by multiple relapses following chemotherapy plus all-transretinoic acid. 17 BCOR mutations were detected in about 4% (10 of 262) of an unselected cohort of de novo CN-AML. Importantly, they occurred at a higher frequency (about 17%; 14 of 82 cases) in the subset of CN-AML devoid of NPM1, CEBPA, FLT3-ITD, and MLL-PTD mutations, and mostly also lacking IDH1 mutations.…”
mentioning
confidence: 99%
“…19). Functional analysis confirmed that BCOR-RARA inhibited the transcriptional response to retinoic acid and exhibited aberrant subcellular localization (19). Typical APL is induced by t(15;17)(q22;q12) translocation, which results in promyelocytic leukemia (PML)-RARA fusion.…”
Section: Identification Of Bcor-retinoic Acid Receptor Alpha Fusion Imentioning
confidence: 72%