Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement

Wenjing Ding; Wenjing Ding; Guangyang Weng; Zheng Wang; Zheng Wang; Yusha Guo; Yusha Guo; Man Wang; Hongjie Shen; Suning Chen; Suning Chen; Xin Du; Lijun Wen; Lijun Wen

doi:10.3389/fonc.2022.1028651

Frontiers in Oncology (Jan 2023)

Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement

Wenjing Ding,
Wenjing Ding,
Guangyang Weng,
Zheng Wang,
Zheng Wang,
Yusha Guo,
Yusha Guo,
Man Wang,
Hongjie Shen,
Suning Chen,
Suning Chen,
Xin Du,
Lijun Wen,
Lijun Wen

Affiliations

Wenjing Ding: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Wenjing Ding: Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China
Guangyang Weng: Department of Hematology and Shenzhen Bone Marrow Transplantation Public Service Platform, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen University School of Medicine, Shenzhen, China
Zheng Wang: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Zheng Wang: Suzhou Jsuniwell Medical Laboratory, Suzhou, China
Yusha Guo: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Yusha Guo: Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China
Man Wang: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Hongjie Shen: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Suning Chen: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Suning Chen: Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China
Xin Du: Department of Hematology and Shenzhen Bone Marrow Transplantation Public Service Platform, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen University School of Medicine, Shenzhen, China
Lijun Wen: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China
Lijun Wen: Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China

DOI: https://doi.org/10.3389/fonc.2022.1028651
Journal volume & issue: Vol. 12

Abstract

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Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), 95% patients have PML-RARA fusion gene as a result of a reciprocal chromosomal translocation t(15;17)(q22; q21). The retinoic acid receptors (RARs) belong to nuclear hormone receptors which modulate the transcription of DNA elements. RARs have three isoforms: retinoic acid receptor alpha (RARA), retinoic acid receptor beta (RARB) and retinoic acid receptor gamma (RARG). In this study, we describe the experimental results of a case with HNRNPC::RARG gene transcript with morphologic and immunophenotypic features similar to APL, including bone marrow morphology and immunophenotype, which showed poor response to ATO and chemotherapy. Then the patient achieved remission under the combination of BCL-2 inhibitor (Venetoclax) and standard 7 + 3 chemotherapy in second induction chemotherapy. The treatment in this case demonstrated effective response to Venetoclax, which suggested its possible role for the patient with acute promyelocytic-like leukemias (APLL).

Published in Frontiers in Oncology

ISSN: 2234-943X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Website: https://www.frontiersin.org/journals/oncology/

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