Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib
Abstract Background Hematopoietic neoplasms with chromosomal translocations involving JAK2 are rare, and most of them show myeloproliferative neoplasm‐associated features, followed by B‐acute lymphoblastic leukemia (B‐ALL). De novo B‐ALL cases with JAK2 rearrangements are suggested to be appropriate...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-03-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1110 |
| _version_ | 1797301035223482368 |
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| author | Xue Chen Fang Wang Yang Zhang Xiaoli Ma Mingyue Liu Panxiang Cao Lin Zhou Lan Wang Xian Zhang Tong Wang Hongxing Liu |
| author_facet | Xue Chen Fang Wang Yang Zhang Xiaoli Ma Mingyue Liu Panxiang Cao Lin Zhou Lan Wang Xian Zhang Tong Wang Hongxing Liu |
| author_sort | Xue Chen |
| collection | DOAJ |
| description | Abstract Background Hematopoietic neoplasms with chromosomal translocations involving JAK2 are rare, and most of them show myeloproliferative neoplasm‐associated features, followed by B‐acute lymphoblastic leukemia (B‐ALL). De novo B‐ALL cases with JAK2 rearrangements are suggested to be appropriately considered as BCR‐ABL1‐like B‐ALL, but its partners varied. Methods Fluorescence in situ hybridization (FISH), RNA sequencing (RNA‐Seq), whole‐genome sequencing, and reverse transcription polymerase chain reaction (RT‐PCR) were performed to identify the pathogenic fusion gene in a 29‐year‐old woman with relapsed B‐ALL and rare t(1;9)(p13;p22) translocation. Results We identified RNPC3 as a new JAK2 fusion partner in the patient. She was treated with a combination of chemotherapy and targeted drug ruxolitinib and chimeric antigen receptor T‐cell therapy, but failed to achieve complete remission. She had no chance to undergo allogeneic hematopoietic stem cell transplantation and died of disease progression 7 months after the initial diagnosis. Her clinical course demonstrated that this novel RNPC3‐JAK2 fusion might portend an unfavorable prognosis. Conclusion This finding adds to the expanding compendium of JAK2 fusions found in B‐ALL and suggests the potential need for a diagnostic FISH analysis as well as RNA‐Seq in the appropriate clinical setting. |
| first_indexed | 2024-03-07T23:16:34Z |
| format | Article |
| id | doaj.art-0ae6a3b26772468895b9d208b27b6c7f |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:34Z |
| publishDate | 2020-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-0ae6a3b26772468895b9d208b27b6c7f2024-02-21T10:43:38ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-03-0183n/an/a10.1002/mgg3.1110Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinibXue Chen0Fang Wang1Yang Zhang2Xiaoli Ma3Mingyue Liu4Panxiang Cao5Lin Zhou6Lan Wang7Xian Zhang8Tong Wang9Hongxing Liu10Divison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDepartment of Hematology Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaDivison of Pathology & Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang ChinaAbstract Background Hematopoietic neoplasms with chromosomal translocations involving JAK2 are rare, and most of them show myeloproliferative neoplasm‐associated features, followed by B‐acute lymphoblastic leukemia (B‐ALL). De novo B‐ALL cases with JAK2 rearrangements are suggested to be appropriately considered as BCR‐ABL1‐like B‐ALL, but its partners varied. Methods Fluorescence in situ hybridization (FISH), RNA sequencing (RNA‐Seq), whole‐genome sequencing, and reverse transcription polymerase chain reaction (RT‐PCR) were performed to identify the pathogenic fusion gene in a 29‐year‐old woman with relapsed B‐ALL and rare t(1;9)(p13;p22) translocation. Results We identified RNPC3 as a new JAK2 fusion partner in the patient. She was treated with a combination of chemotherapy and targeted drug ruxolitinib and chimeric antigen receptor T‐cell therapy, but failed to achieve complete remission. She had no chance to undergo allogeneic hematopoietic stem cell transplantation and died of disease progression 7 months after the initial diagnosis. Her clinical course demonstrated that this novel RNPC3‐JAK2 fusion might portend an unfavorable prognosis. Conclusion This finding adds to the expanding compendium of JAK2 fusions found in B‐ALL and suggests the potential need for a diagnostic FISH analysis as well as RNA‐Seq in the appropriate clinical setting.https://doi.org/10.1002/mgg3.1110B‐acute lymphoblastic leukemiaJAK2RNPC3RNPC3‐JAK2 |
| spellingShingle | Xue Chen Fang Wang Yang Zhang Xiaoli Ma Mingyue Liu Panxiang Cao Lin Zhou Lan Wang Xian Zhang Tong Wang Hongxing Liu Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib Molecular Genetics & Genomic Medicine B‐acute lymphoblastic leukemia JAK2 RNPC3 RNPC3‐JAK2 |
| title | Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| title_full | Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| title_fullStr | Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| title_full_unstemmed | Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| title_short | Identification of RNPC3 as a novel JAK2 fusion partner gene in B‐acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| title_sort | identification of rnpc3 as a novel jak2 fusion partner gene in b acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib |
| topic | B‐acute lymphoblastic leukemia JAK2 RNPC3 RNPC3‐JAK2 |
| url | https://doi.org/10.1002/mgg3.1110 |
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