Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review
We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with <i>BCR::JAK2</i> rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a...
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MDPI AG
2023-12-01
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| Online Access: | https://www.mdpi.com/2073-4425/14/12/2188 |
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| author | Neelam Vanjari Guilin Tang Gokce A. Toruner Wei Wang Beenu Thakral Ming Zhao Bhavana J. Dave Joseph D. Khoury L. Jeffrey Medeiros Zhenya Tang |
| author_facet | Neelam Vanjari Guilin Tang Gokce A. Toruner Wei Wang Beenu Thakral Ming Zhao Bhavana J. Dave Joseph D. Khoury L. Jeffrey Medeiros Zhenya Tang |
| author_sort | Neelam Vanjari |
| collection | DOAJ |
| description | We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with <i>BCR::JAK2</i> rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible <i>BCR</i> rearrangement and a reflex JAK2 breakapart probe indicated <i>JAK2</i> rearrangement, most likely partnered with <i>BCR</i>. Optical genome mapping (OGM) analysis confirmed <i>BCR::JAK2</i> derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal aberrations, disruption and/or rearrangement of other genes such as <i>KIF24::BCR</i>, <i>JAK2::KIF24/UBAP1,</i> and <i>CDK6:SOX9</i> were also identified by OGM. Although the functionality and clinical importance of these novel rearrangements were unknown, disruption of these genes might be associated with a poorer response to chemotherapy and disease progression. We also reviewed all cases with <i>BCR::JAK2</i> rearrangement reported in the literature. In conclusion, a suspected t(9;22)/<i>BCR::JAK2</i> rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements. |
| first_indexed | 2024-03-08T20:45:02Z |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-08T20:45:02Z |
| publishDate | 2023-12-01 |
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| record_format | Article |
| series | Genes |
| spelling | doaj.art-b89791f716db4d33beb8c3d7c0ee52362023-12-22T14:11:13ZengMDPI AGGenes2073-44252023-12-011412218810.3390/genes14122188Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature ReviewNeelam Vanjari0Guilin Tang1Gokce A. Toruner2Wei Wang3Beenu Thakral4Ming Zhao5Bhavana J. Dave6Joseph D. Khoury7L. Jeffrey Medeiros8Zhenya Tang9School of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USASchool of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USADepartment of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USADepartment of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USAWe report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with <i>BCR::JAK2</i> rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible <i>BCR</i> rearrangement and a reflex JAK2 breakapart probe indicated <i>JAK2</i> rearrangement, most likely partnered with <i>BCR</i>. Optical genome mapping (OGM) analysis confirmed <i>BCR::JAK2</i> derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal aberrations, disruption and/or rearrangement of other genes such as <i>KIF24::BCR</i>, <i>JAK2::KIF24/UBAP1,</i> and <i>CDK6:SOX9</i> were also identified by OGM. Although the functionality and clinical importance of these novel rearrangements were unknown, disruption of these genes might be associated with a poorer response to chemotherapy and disease progression. We also reviewed all cases with <i>BCR::JAK2</i> rearrangement reported in the literature. In conclusion, a suspected t(9;22)/<i>BCR::JAK2</i> rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements.https://www.mdpi.com/2073-4425/14/12/2188<i>BCR::JAK2</i> rearrangementoptical genome mapping (OGM)complex chromosomal aberrationsmyeloproliferative neoplasm (MPN)fluorescence in situ hybridization (FISH) |
| spellingShingle | Neelam Vanjari Guilin Tang Gokce A. Toruner Wei Wang Beenu Thakral Ming Zhao Bhavana J. Dave Joseph D. Khoury L. Jeffrey Medeiros Zhenya Tang Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review Genes <i>BCR::JAK2</i> rearrangement optical genome mapping (OGM) complex chromosomal aberrations myeloproliferative neoplasm (MPN) fluorescence in situ hybridization (FISH) |
| title | Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review |
| title_full | Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review |
| title_fullStr | Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review |
| title_full_unstemmed | Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review |
| title_short | Optical Genome Mapping Helps to Identify <i>BCR::JAK2</i> Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review |
| title_sort | optical genome mapping helps to identify i bcr jak2 i rearrangement arising from cryptic complex chromosomal aberrations a case report and literature review |
| topic | <i>BCR::JAK2</i> rearrangement optical genome mapping (OGM) complex chromosomal aberrations myeloproliferative neoplasm (MPN) fluorescence in situ hybridization (FISH) |
| url | https://www.mdpi.com/2073-4425/14/12/2188 |
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