An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma
While rare, cases of isolated extramedullary disease of B-cell Lymphoblastic Lymphoma (B-LBL) without morphologic bone marrow involvement have been described. In this report, we illustrate the case of an elderly gentleman who presented with isolated testicular and vertebral LBL involvement but had n...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2017/2413587 |
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| author | Prajwal Boddu C. Cameron Yin Rashmi Kanagal-Shamanna Guillin Tang Beenu Thakral Tapan Kadia Marina Konopleva Elias Jabbour Nitin Jain |
| author_facet | Prajwal Boddu C. Cameron Yin Rashmi Kanagal-Shamanna Guillin Tang Beenu Thakral Tapan Kadia Marina Konopleva Elias Jabbour Nitin Jain |
| author_sort | Prajwal Boddu |
| collection | DOAJ |
| description | While rare, cases of isolated extramedullary disease of B-cell Lymphoblastic Lymphoma (B-LBL) without morphologic bone marrow involvement have been described. In this report, we illustrate the case of an elderly gentleman who presented with isolated testicular and vertebral LBL involvement but had no morphologic bone marrow involvement. The initial plan of treatment was to treat along the lines of Philadelphia negative B-ALL/LBL. During this time, fluorescence in situ hybridization (FISH) and PCR testing for BCR-ABL1 rearrangements were being performed on the marrow specimens as a part of routine diagnostic workup. While the FISH returned negative, PCR testing unexpectedly detected BCR-ABL1 fusion transcripts at a low level of 0.48%. Given their presence, we performed FISH for BCR/ABL1 rearrangement in both testicular and L5 vertebral specimens which were 80–90% positive. He subsequently received rituximab, hyper-CVAD, and dasatinib, along with prophylactic intrathecal prophylactic chemotherapy. The patient achieved a prolonged remission but eventually relapsed, 4 years later. Had it not been for this fortuitous discovery, the patient would not have been treated with tyrosine kinase inhibitors. We emphasize that FISH and PCR testing for BCR-ABL1 rearrangement are integral to arriving at an accurate diagnosis and should be routinely tested on B-LBL biopsy specimens. |
| format | Article |
| id | doaj-art-2ad1dbf1fd444f0a931afd5824fedba1 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-2ad1dbf1fd444f0a931afd5824fedba12025-02-03T05:59:43ZengWileyCase Reports in Hematology2090-65602090-65792017-01-01201710.1155/2017/24135872413587An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic LymphomaPrajwal Boddu0C. Cameron Yin1Rashmi Kanagal-Shamanna2Guillin Tang3Beenu Thakral4Tapan Kadia5Marina Konopleva6Elias Jabbour7Nitin Jain8Department of Leukemia, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Hematopathology, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Hematopathology, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Hematopathology, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Hematopathology, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Leukemia, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Leukemia, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Leukemia, UT MD Anderson Cancer Center, Houston, TX, USADepartment of Leukemia, UT MD Anderson Cancer Center, Houston, TX, USAWhile rare, cases of isolated extramedullary disease of B-cell Lymphoblastic Lymphoma (B-LBL) without morphologic bone marrow involvement have been described. In this report, we illustrate the case of an elderly gentleman who presented with isolated testicular and vertebral LBL involvement but had no morphologic bone marrow involvement. The initial plan of treatment was to treat along the lines of Philadelphia negative B-ALL/LBL. During this time, fluorescence in situ hybridization (FISH) and PCR testing for BCR-ABL1 rearrangements were being performed on the marrow specimens as a part of routine diagnostic workup. While the FISH returned negative, PCR testing unexpectedly detected BCR-ABL1 fusion transcripts at a low level of 0.48%. Given their presence, we performed FISH for BCR/ABL1 rearrangement in both testicular and L5 vertebral specimens which were 80–90% positive. He subsequently received rituximab, hyper-CVAD, and dasatinib, along with prophylactic intrathecal prophylactic chemotherapy. The patient achieved a prolonged remission but eventually relapsed, 4 years later. Had it not been for this fortuitous discovery, the patient would not have been treated with tyrosine kinase inhibitors. We emphasize that FISH and PCR testing for BCR-ABL1 rearrangement are integral to arriving at an accurate diagnosis and should be routinely tested on B-LBL biopsy specimens.http://dx.doi.org/10.1155/2017/2413587 |
| spellingShingle | Prajwal Boddu C. Cameron Yin Rashmi Kanagal-Shamanna Guillin Tang Beenu Thakral Tapan Kadia Marina Konopleva Elias Jabbour Nitin Jain An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma Case Reports in Hematology |
| title | An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma |
| title_full | An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma |
| title_fullStr | An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma |
| title_full_unstemmed | An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma |
| title_short | An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma |
| title_sort | unsuspected finding of t 9 22 a rare case of philadelphia chromosome positive b lymphoblastic lymphoma |
| url | http://dx.doi.org/10.1155/2017/2413587 |
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