Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)

PAX5 plays a critical role in B-cell precursor development and is involved in various chromosomal translocations that involve the fusion of a portion of PAX5 to at least 49 different partners reported to date. Here, we identified a novel PAX5 fusion transcript in a Ph-positive mixed phenotype acute...

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Main Authors:	Yan Yu, Zhao Zeng, Jundan Xie, Qiongyu Lu, Wenzhi Cai, Ruixi Zhang, Jinlan Pan, Yun Zhao, Aining Sun, Huiying Qiu, Suning Chen
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-08-01
Series:	Frontiers in Oncology
Subjects:	Pax5 UBE2D4 MPAL BCR/ABL dic(7;9)
Online Access:	https://www.frontiersin.org/articles/10.3389/fonc.2021.703612/full

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record_format	Article
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Yan Yu Yan Yu Yan Yu Zhao Zeng Zhao Zeng Jundan Xie Jundan Xie Qiongyu Lu Wenzhi Cai Wenzhi Cai Ruixi Zhang Ruixi Zhang Ruixi Zhang Jinlan Pan Jinlan Pan Yun Zhao Aining Sun Aining Sun Aining Sun Aining Sun Huiying Qiu Huiying Qiu Suning Chen Suning Chen Suning Chen
spellingShingle	Yan Yu Yan Yu Yan Yu Zhao Zeng Zhao Zeng Jundan Xie Jundan Xie Qiongyu Lu Wenzhi Cai Wenzhi Cai Ruixi Zhang Ruixi Zhang Ruixi Zhang Jinlan Pan Jinlan Pan Yun Zhao Aining Sun Aining Sun Aining Sun Aining Sun Huiying Qiu Huiying Qiu Suning Chen Suning Chen Suning Chen Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13) Frontiers in Oncology Pax5 UBE2D4 MPAL BCR/ABL dic(7;9)
author_facet	Yan Yu Yan Yu Yan Yu Zhao Zeng Zhao Zeng Jundan Xie Jundan Xie Qiongyu Lu Wenzhi Cai Wenzhi Cai Ruixi Zhang Ruixi Zhang Ruixi Zhang Jinlan Pan Jinlan Pan Yun Zhao Aining Sun Aining Sun Aining Sun Aining Sun Huiying Qiu Huiying Qiu Suning Chen Suning Chen Suning Chen
author_sort	Yan Yu
title	Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
title_short	Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
title_full	Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
title_fullStr	Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
title_full_unstemmed	Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)
title_sort	case report: the formation of a truncated pax5 transcript in a case of ph-positive mixed phenotype acute leukemia with dic(7;9)(p11-p13;p13)
publisher	Frontiers Media S.A.
series	Frontiers in Oncology
issn	2234-943X
publishDate	2021-08-01
description	PAX5 plays a critical role in B-cell precursor development and is involved in various chromosomal translocations that involve the fusion of a portion of PAX5 to at least 49 different partners reported to date. Here, we identified a novel PAX5 fusion transcript in a Ph-positive mixed phenotype acute leukemia case with dic(7;9)(q13;q13), in which a translocation juxtaposes the 5’ region of PAX5 and the ubiquitin-conjugating enzyme E2D4 (UBE2D4) to generate a PAX5-UBE2D4 fusion gene. To further explore the general characteristics and function of PAX5-UBE2D4, we cloned the full-length cDNA, which was amplified from the bone marrow of the patient. Interestingly, the fusion was located in the nucleus and negatively affected PAX5 transcription activity. Importantly, the fusion promoted tumor growth in nude mice and the proliferation of NIH3T3 cells in vitro. In conclusion, the fusion resulted in partial oncogenic activity, in contrast to the tumor suppressor activity of wild-type PAX5.
topic	Pax5 UBE2D4 MPAL BCR/ABL dic(7;9)
url	https://www.frontiersin.org/articles/10.3389/fonc.2021.703612/full
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spelling	doaj-5f4e9186a57c4db2b816725d747f12372021-08-27T20:50:36ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2021-08-011110.3389/fonc.2021.703612703612Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)Yan Yu0Yan Yu1Yan Yu2Zhao Zeng3Zhao Zeng4Jundan Xie5Jundan Xie6Qiongyu Lu7Wenzhi Cai8Wenzhi Cai9Ruixi Zhang10Ruixi Zhang11Ruixi Zhang12Jinlan Pan13Jinlan Pan14Yun Zhao15Aining Sun16Aining Sun17Aining Sun18Aining Sun19Huiying Qiu20Huiying Qiu21Suning Chen22Suning Chen23Suning Chen24Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaInstitute of Blood and Marrow Transplantation, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaInstitute of Blood and Marrow Transplantation, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaCyrus Tang Hematology Center, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaInstitute of Blood and Marrow Transplantation, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaCyrus Tang Hematology Center, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaInstitute of Blood and Marrow Transplantation, Soochow University, Suzhou, ChinaKey Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, The First Affiliated Hospital of Soochow University, Medical College of Soochow University, Suzhou, ChinaCollaborative Innovation Center of Hematology, Soochow University, Suzhou, ChinaInstitute of Blood and Marrow Transplantation, Soochow University, Suzhou, ChinaPAX5 plays a critical role in B-cell precursor development and is involved in various chromosomal translocations that involve the fusion of a portion of PAX5 to at least 49 different partners reported to date. Here, we identified a novel PAX5 fusion transcript in a Ph-positive mixed phenotype acute leukemia case with dic(7;9)(q13;q13), in which a translocation juxtaposes the 5’ region of PAX5 and the ubiquitin-conjugating enzyme E2D4 (UBE2D4) to generate a PAX5-UBE2D4 fusion gene. To further explore the general characteristics and function of PAX5-UBE2D4, we cloned the full-length cDNA, which was amplified from the bone marrow of the patient. Interestingly, the fusion was located in the nucleus and negatively affected PAX5 transcription activity. Importantly, the fusion promoted tumor growth in nude mice and the proliferation of NIH3T3 cells in vitro. In conclusion, the fusion resulted in partial oncogenic activity, in contrast to the tumor suppressor activity of wild-type PAX5.https://www.frontiersin.org/articles/10.3389/fonc.2021.703612/fullPax5UBE2D4MPALBCR/ABLdic(7;9)

Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)

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