A short report of novel <i>RARG-HNRNPM fusion</i> gene in resembling acute promyelocytic leukemia

Song, Yang; Hou, Jiangxue; Wan, Li; Liu, Kaiqi; Zhou, Chunlin; Wei, Shuning; Zhang, Guangji; Lin, Dong; Li, Yan; Fang, Qiuyun; Liu, Yuntao; Gong, Bin; Gong, Xiaoyuan; Wang, Ying; Wei, Hui; Wang, Jianxiang; Mi, Yingchang

doi:10.1080/16078454.2022.2066825

Cited by 9 publications

(8 citation statements)

References 16 publications

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“…Although insensitive to ATRA and ATO therapy, recent research shows that homoharringtonine-based regimen is effective for the treatment of some variant APL cases with RARG fusion. 2,10,11 Regrettably, our patient did not have the opportunity to receive homoharringtonine-based chemotherapy and gave up treatment due to severe conditions. Therefore, accurate identification of these rare gene fusions is essential to guide therapeutic decisions.…”

Section: Discussionmentioning

confidence: 89%

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Report of PRPF19 as a novel partner of RARG and the recurrence of interposition‐type fusion in variant acute promyelocytic leukemia

Zhou

et al. 2023

Hematological Oncology

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Acute promyelocytic leukemia (APL) is a unique subtype of acute myeloid leukemia (AML) which is characterized by specific clinical and biological features. Typical APL cases are caused by PML::RARA fusion gene and are exquisitely sensitive to all‐trans retinoic acid (ATRA) and arsenic trioxide (ATO). Rarely, APLs are caused by atypical fusions involving RARA or, in fewer cases still, fusions involving other members of the retinoic acid receptors (RARB or RARG). To date, seven partner genes of RARG have been reported in a total of 18 cases of variant APL. Patients with RARG fusions showed distinct clinical resistance to ATRA and had poor outcomes. Here, we report PRPF19 gene as a novel partner of RARG and identify a rare interposition‐type gene fusion in a variant APL patient with a rapidly fatal clinical course. The incomplete ligand‐binding domain of RARG in the fusion protein may account for the clinical ATRA resistance in this patient. These results broaden the spectrum of variant APL associated molecular aberrations. Accurately and timely identification of these rare gene fusions in variant APL is essential to guide therapeutic decisions.

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Section: Discussionmentioning

confidence: 89%

“…All these patients showed resistance to ATRA and ATO and had poor outcomes. [1][2][3] Here we report the PRPF19 gene as a novel RARG fusion partner and the rare interposition-type fusion in a young adult with morphological and immunophenotypical features of APL but lacking PML::RARA and abnormal karyotype.…”

mentioning

confidence: 78%

Report of PRPF19 as a novel partner of RARG and the recurrence of interposition‐type fusion in variant acute promyelocytic leukemia

Zhou

et al. 2023

Hematological Oncology

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“…NPM1::RARA acts as a retinoic acid-dependent transcriptional activator similarly to PML::RARA [ 5 ]. However, rare cases of RARA -negative AML with APL-like features were also described featuring RARB or RARG [ 16 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ], KMT2A fusions [ 33 , 48 , 49 ] and various other genetics [ 15 , 33 , 50 , 51 , 52 ] (see Table S4 ). In our study, they accounted for 4.4% of the studied cohort and included one case of RARB isotype gene rearrangement TBL1XR1::RARB (0.4%), one case of KMT2A -rearranged AML (0.4%) and five patients without fusions (1.9%).…”

Section: Discussionmentioning

confidence: 99%

Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children—A Single Center Experience

Borkovskaia

Bogacheva

Konyukhova

et al. 2023

Genes

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Acute promyelocytic leukemia (APL) pathogenesis is based on RARA gene translocations, which are of high importance in the diagnosis of and proper therapy selection for APL. However, in some cases acute myeloid leukemia (AML) demonstrates APL-like morphological features such as atypical promyelocytes accumulation. This type of AML is characterized by the involvement of other RAR family members or completely different genes. In the present study, we used conventional karyotyping, FISH and high-throughput sequencing in a group of 271 de novo AML with atypical promyelocytes accumulation. Of those, 255 cases were shown to carry a typical chromosomal translocation t(15;17)(q24;q21) with PML::RARA chimeric gene formation (94.1%). Other RARA-positive cases exhibited cryptic PML::RARA fusion without t(15;17)(q24;q21) (1.8%, n = 5) and variant t(5;17)(q35;q21) translocation with NPM1::RARA chimeric gene formation (1.5%, n = 4). However, 7 RARA-negative AMLs with atypical promyelocytes accumulation were also discovered. These cases exhibited TBL1XR1::RARB and KMT2A::SEPT6 fusions as well as mutations, e.g., NPM1 insertion and non-recurrent chromosomal aberrations. Our findings demonstrate the genetic diversity of AML with APL-like morphological features, which is of high importance for successful therapy implementation.

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“…By far, translocations involving RARA and 16 other partner genes has been reported with different sensitivity to ATRA 2 . Rearrangement involving the other two members of the retinoic acid receptor family, retinoic acid receptor gamma (RARB) or retinoic acid receptor gamma (RARG), has been reported including TBLR1::RARB, NUP98::RARG, CPSF6::RARG, PML::RARG, NPM1::RARG::NPM1, HNRNPC::RARG and RARG::HNRNPM [2][3][4][5] . All these patients demonstrated ATRA resistance.…”

Section: Main Textmentioning

confidence: 99%

A novel <i>SART3::RARG</i> fusion gene in acute myeloid leukemia with acute promyelocytic leukemia phenotype and differentiation escape to retinoic acid

Zhang

et al. 2022

haematol

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A short report of novel RARG-HNRNPM fusion gene in resembling acute promyelocytic leukemia

Cited by 9 publications

References 16 publications

Report of PRPF19 as a novel partner of RARG and the recurrence of interposition‐type fusion in variant acute promyelocytic leukemia

Report of PRPF19 as a novel partner of RARG and the recurrence of interposition‐type fusion in variant acute promyelocytic leukemia

Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children—A Single Center Experience

A novel <i>SART3::RARG</i> fusion gene in acute myeloid leukemia with acute promyelocytic leukemia phenotype and differentiation escape to retinoic acid

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