Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter
Fusion of b2a2 is the most common BCR/ABL rearrangement in CML; however, absent a2 exons are very rare. We describe a case with Philadelphia-positive chronic myeloid leukemia (CML) with a very rare b3a3 (e14a3) BCR/ABL junction. To our knowledge, only 15 such cases of CML have previously been report...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2018-07-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/490697 |
| _version_ | 1818647514444726272 |
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| author | Mohammad Muhsin Chisti Daniel Steven Sanders |
| author_facet | Mohammad Muhsin Chisti Daniel Steven Sanders |
| author_sort | Mohammad Muhsin Chisti |
| collection | DOAJ |
| description | Fusion of b2a2 is the most common BCR/ABL rearrangement in CML; however, absent a2 exons are very rare. We describe a case with Philadelphia-positive chronic myeloid leukemia (CML) with a very rare b3a3 (e14a3) BCR/ABL junction. To our knowledge, only 15 such cases of CML have previously been reported. These uncommon transcripts may be under-reported, since RT-PCR-based assays may fail to detect these fusions due to the location of the primers and probes used. We are reporting this case for the first time which presented with MTHFR mutation and significant thrombocytosis. There is very limited information on how this genotype expresses and responds to treatment, especially to tyrosine kinase inhibitors, as compared to classic CML. Also, the relationship between MTHFR mutation and CML is not clear, although studies have been done. |
| first_indexed | 2024-12-17T01:03:45Z |
| format | Article |
| id | doaj.art-2c153ba4269e49e6b0a571cd1d72efdc |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-12-17T01:03:45Z |
| publishDate | 2018-07-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-2c153ba4269e49e6b0a571cd1d72efdc2022-12-21T22:09:21ZengKarger PublishersCase Reports in Oncology1662-65752018-07-0111248549210.1159/000490697490697Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism MatterMohammad Muhsin ChistiDaniel Steven SandersFusion of b2a2 is the most common BCR/ABL rearrangement in CML; however, absent a2 exons are very rare. We describe a case with Philadelphia-positive chronic myeloid leukemia (CML) with a very rare b3a3 (e14a3) BCR/ABL junction. To our knowledge, only 15 such cases of CML have previously been reported. These uncommon transcripts may be under-reported, since RT-PCR-based assays may fail to detect these fusions due to the location of the primers and probes used. We are reporting this case for the first time which presented with MTHFR mutation and significant thrombocytosis. There is very limited information on how this genotype expresses and responds to treatment, especially to tyrosine kinase inhibitors, as compared to classic CML. Also, the relationship between MTHFR mutation and CML is not clear, although studies have been done.https://www.karger.com/Article/FullText/490697Chronic myelogenous leukemiaBCR-ABLe14a3b3a3 |
| spellingShingle | Mohammad Muhsin Chisti Daniel Steven Sanders Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter Case Reports in Oncology Chronic myelogenous leukemia BCR-ABL e14a3 b3a3 |
| title | Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter |
| title_full | Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter |
| title_fullStr | Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter |
| title_full_unstemmed | Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter |
| title_short | Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis – Does MTHFR Polymorphism Matter |
| title_sort | chronic myeloid leukemia with b3a3 e14a3 fusion a rare bcr abl rearrangement presenting with thrombocytosis does mthfr polymorphism matter |
| topic | Chronic myelogenous leukemia BCR-ABL e14a3 b3a3 |
| url | https://www.karger.com/Article/FullText/490697 |
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